(GAA) glucosidase, alpha; acid [Homo sapiens] |
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Gene
Transcript(s)
Exon(s)
Protein(s)
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Accession
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8619
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Official symbol
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GAA
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Official name
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glucosidase, alpha; acid
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Gene type
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gene with protein product
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Organism
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Homo sapiens
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Location
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Chromosome 17 (NC_000017.10) : 78075354...78093678 (+)
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Map
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17q25.2-q25.3
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Length
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18325 nt
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NM_000152.3
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GAA, mRNA isoform 1
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NM_001079803.1
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GAA, mRNA isoform 2
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NM_001079804.1
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GAA, mRNA isoform 3
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Accession
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Name
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Organism
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Length
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P10253
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Lysosomal alpha-glucosidase
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Homo sapiens
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952 aa
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Synonyms |
LYAG
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Alternative name(s) |
acid maltase; lysosomal alpha-glucosidase; Pompe disease; glycogen storage disease type II
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Summary |
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq].
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Related Articles in PubMed
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Go to ensembl
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1 |
GACCCGCCTC |
TGCGCGCCCC |
CGGGCACGAC |
CCCGGAGTCT |
CCGCGGGCGG |
CCAGGGCGCG |
CGTGCGCGGA |
GGTGAGCCGG |
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81 |
GCCGGGGCTG |
CGGGGCTTCC |
CTGAGCGCGG |
GCCGGGTCGG |
TGGGGCGGTC |
GGCTGCCCGC |
GCGGCCTCTC |
AGTTGGGAAA |
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161 |
GCTGAGGTTG |
TCGCCGGGGC |
CGCGGGTGGA |
GGTCGGGGAT |
GAGGCAGCAG |
GTAGGACAGT |
GACCTCGGTG |
ACGCGAAGGA |
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241 |
CCCCGGCCAC |
CTCTAGGTTC |
TCCTCGTCCG |
CCCGTTGTTC |
AGCGAGGGAG |
GCTCTGCGCG |
TGCCGCAGCT |
GACGGGGAAA |
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321 |
CTGAGGCACG |
GAGCGGGTGA |
GACACCTGAC |
GTCTGCCCCG |
CGCTGCCGGC |
GGTAACATCC |
CAGAAGCGGG |
TTTGAACGTG |
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401 |
CCTAGCCGTG |
CCCCCAGCCT |
CTTCCCCTGA |
GCGGAGCTTG |
AGCCCCAGAC |
CTCTAGTCCT |
CCCGGTCTTT |
ATCTGAGTTC |
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481 |
AGCTTAGAGA |
TGAACGGGGA |
GCCGCCCTCC |
TGTGCTGGGC |
TTGGGGCTGG |
AGGCTGCATC |
TTCCCGTTTC |
TAGGGTTTCC |
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561 |
TTTCCCCTTT |
TGATCGACGC |
AGTGCTCAGT |
CCTGGCCGGG |
ACCCGAGCCA |
CCTCTCCTGC |
TCCTGCAGGA |
CGCACATGGC |
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641 |
TGGGTCTGAA |
TCCCTGGGGT |
GAGGAGCACC |
GTGGCCTGAG |
AGGGGGCCCC |
TGGGCCAGCT |
CTGAAATCTG |
AATGTCTCAA |
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721 |
TCACAAAGAC |
CCCCTTAGGC |
CAGGCCAGGG |
GTGACTGTCT |
CTGGTCTTTG |
TCCCTGGTTG |
CTGGCACATA |
GCACCCGAAA |
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801 |
CCCTTGGAAA |
CCGAGTGATG |
AGAGAGCCTT |
TTGCTCATGA |
GGTGACTGAT |
GACCGGGGAC |
ACCAGGTGGC |
TTCAGGATGG |
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881 |
AAGCAGATGG |
CCAGAAAGAC |
CAAGGCCTGA |
TGACGGGTTG |
GGATGGAAAA |
GGGGTGAGGG |
GCTGGAGATT |
GAGTGAATCA |
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961 |
CCAGTGGCTT |
AGTCAACCAT |
GCCTGCACAA |
TGGAACCCCG |
TAAGAAACCA |
CAGGGATCAG |
AGGGCTTCCC |
GCCGGGTTGT |
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1041 |
GGAACACACC |
AAGGCACTGG |
AGGGTGGTGC |
GAGCAGAGAG |
CACAGCATCA |
CTGCCCCCAC |
CTCACACCAG |
GCCCTACGCA |
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1121 |
TCTCTTCCAT |
ACGGCTGTCT |
GAGTTTTATC |
CTTTGTAATA |
AACCAGCAAC |
TGTAAGAAAC |
GCACTTTCCT |
GAGTTCTGTG |
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1201 |
ACCCTGAAGA |
GGGAGTCCTG |
GGAACCTCTG |
AATTTATAAC |
TAGTTGATCG |
AAAGTACAAG |
TGACAACCTG |
GGATTTGCCA |
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1281 |
TTGGCCTCTG |
AAGTGAAGGC |
AGTGTTGTGG |
GACTGAGCCC |
TTAACCTGTG |
GAGTCTGTGC |
TGACTCCAGG |
TAGTGTCAAG |
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1361 |
ATTGAATTGA |
ATTGTAGGAC |
ACCCAGCCGT |
GTCCAGAAAG |
TTGCAGAATT |
GATGGGTGTG |
AGAAAAACCC |
TACACATTTA |
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1441 |
ATGTCAGAAG |
TGTGGGTAAA |
ATGTTTCACC |
CTCCAGCCCA |
GAGAGCCCTA |
ATTTACCAGT |
GGCCCACGGT |
GGAACACCAC |
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1521 |
GTCCGGCCGG |
GGGCAGAGCG |
TTCCCAGCCA |
AGCCTTCTGT |
AACATGACAT |
GACAGGTCAG |
ACTCCCTCGG |
GCCCTGAGTT |
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1601 |
CACTTCTTCC |
TGGTATGTGA |
CCAGCTCCCA |
GTACCAGAGA |
AGGTTGCACA |
GTCCTCTGCT |
CCAAGGAGCT |
TCACTGGCCA |
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1681 |
GGGGCTGCTT |
TCTGAAATCC |
TTGCCTGCCT |
CTGCTCCAAG |
GCCCGTTCCT |
CAGAGACGCA |
GACCCCTCTG |
ATGGCTGACT |
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1761 |
TTGGTTTGAG |
GACCTCTCTG |
CATCCCTCCC |
CCATGGCCTT |
GCTCCTAGGA |
CACCTTCTTC |
CTCCTTTCCC |
TGGGGTCAGA |
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1841 |
CTTGCCTAGG |
TGCGGTGGCT |
CTCCCAGCCT |
TCCCCACGCC |
CTCCCCATGG |
TGTATTACAC |
ACACCAAAGG |
GACTCCCCTA |
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1921 |
TTGAAATCCA |
TGCATATTGA |
ATCGCATGTG |
GGTTCCGGCT |
GCTCCTGGGA |
GGAGCCAGGC |
TAATAGAATG |
TTTGCCATAA |
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2001 |
AATATTAATG |
TACAGAGAAG |
CGAAACAAAG |
GTCGTTGGTA |
CTTGTTAACC |
TTACCAGCAG |
AATAATGAAA |
GCGAACCCCC |
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2081 |
ATATCTCATC |
TGCACGCGAC |
ATCCTTGTTG |
TGTCTGTACC |
CGAGGCTCCA |
GGTGCAGCCA |
CTGTTACAGA |
GACTGTGTTT |
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2161 |
CTTCCCCATG |
TACCTCGGGG |
GCCGGGAGGG |
GTTCTGATCT |
GCAAAGTCGC |
CAGAGGTTAA |
GTCCTTTCTC |
TCTTGTGGCT |
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2241 |
TTGCCACCCC |
TGGAGTGTCA |
CCCTCAGCTG |
CGGTGCCCAG |
GATTCCCCAC |
TGTGGTATGT |
CCGTGCACCA |
GTCAATAGGA |
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2321 |
AAGGGAGCAA |
GGAAAGGTAC |
TGGGTCCCCC |
TAAGGACATA |
CGAGTTGCCA |
GAATCACTTC |
CGCTGACACC |
CAGTGGACCA |
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2401 |
AGCCGCACCT |
TTATGCAGAA |
GTGGGGCTCC |
CAGCCAGGCG |
TGGTCACTCC |
TGAAATCCCA |
GCACTTCGGA |
AGGCCAAGGG |
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2481 |
GGGTGGATCA |
CTTGAGCTCA |
GGAGTTCGAG |
ACCAGCCTGG |
GTAACATGGC |
AAAATCCCGT |
CTCTACAAAA |
ATACAGAAAA |
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2561 |
TTAGCTGGGT |
GCGGTGGTGT |
GTGCCTACAG |
TCCCAGCTAC |
TCAGGAGGCT |
GAAGTGGGAG |
GATTGCTTGA |
GTCTGGGAGG |
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2641 |
TGGAGGTTGC |
AGTGAGCCAG |
GATCTCACCA |
CAGCACTCTG |
GCCCAGGCGA |
CAGCTGTTTG |
GCCTGTTTCA |
AGTGTCTACC |
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2721 |
TGCCTTGCTG |
GTCTTCCTGG |
GGACATTCTA |
AGCGTGTTTG |
ATTTGTAACA |
TTTTAGCAGA |
CTGTGCAAGT |
GCTCTGCACT |
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2801 |
CCCCTGCTGG |
AGCTTTTCTC |
GCCCTTCCTT |
CTGGCCCTCT |
CCCCAGTCTA |
GACAGCAGGG |
CAACACCCAC |
CCTGGCCACC |
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2881 |
TTACCCCACC |
TGCCTGGGTG |
CTGCAGTGCC |
AGCCGCGGTT |
GATGTCTCAG |
AGCTGCTTTG |
AGAGCCCCGT |
GAGTGCCGCC |
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2961 |
CCTCCCGCCT |
CCCTGCTGAG |
CCCGCTTTCT |
TCTCCCGCAG |
GCCTGTAGGA |
GCTGTCCAGG |
CCATCTCCAA |
CCATGGGAGT |
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3041 |
GAGGCACCCG |
CCCTGCTCCC |
ACCGGCTCCT |
GGCCGTCTGC |
GCCCTCGTGT |
CCTTGGCAAC |
CGCTGCACTC |
CTGGGGCACA |
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3121 |
TCCTACTCCA |
TGATTTCCTG |
CTGGTTCCCC |
GAGAGCTGAG |
TGGCTCCTCC |
CCAGTCCTGG |
AGGAGACTCA |
CCCAGCTCAC |
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3201 |
CAGCAGGGAG |
CCAGCAGACC |
AGGGCCCCGG |
GATGCCCAGG |
CACACCCCGG |
CCGTCCCAGA |
GCAGTGCCCA |
CACAGTGCGA |
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3281 |
CGTCCCCCCC |
AACAGCCGCT |
TCGATTGCGC |
CCCTGACAAG |
GCCATCACCC |
AGGAACAGTG |
CGAGGCCCGC |
GGCTGTTGCT |
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3361 |
ACATCCCTGC |
AAAGCAGGGG |
CTGCAGGGAG |
CCCAGATGGG |
GCAGCCCTGG |
TGCTTCTTCC |
CACCCAGCTA |
CCCCAGCTAC |
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3441 |
AAGCTGGAGA |
ACCTGAGCTC |
CTCTGAAATG |
GGCTACACGG |
CCACCCTGAC |
CCGTACCACC |
CCCACCTTCT |
TCCCCAAGGA |
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3521 |
CATCCTGACC |
CTGCGGCTGG |
ACGTGATGAT |
GGAGACTGAG |
AACCGCCTCC |
ACTTCACGGT |
GGGCAGGGCA |
GGGGCGGGGG |
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3601 |
CGGCGGCCAG |
GGCAGAGGGT |
GCGCGTGGAC |
ATCGACACCC |
ACGCACCTCA |
CAAGGGTGGG |
GTGCATGTTG |
CACCACTGTG |
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3681 |
TGCTGGGCCC |
TTGCTGGGAG |
CGGAGGTGTG |
AGCAGACAAT |
GGCAGCGCCC |
CTCGGGGAGC |
AGTGGGGACA |
CCACGGTGAC |
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3761 |
AGGTACTCCA |
GAAGGCAGGG |
CTCGGGGCTC |
ATTCATCTTT |
ATGAAAAGGT |
GGGTCAGGTA |
GAGTAGGGCT |
GCCAGAGGTT |
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3841 |
GCGAATGAAA |
ACAGGATGCC |
CAGTAAACCC |
GAATTGCAGA |
TACCCCAGGC |
ATGACTTTGT |
TTTTTTGTGT |
AAGGATGCAA |
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3921 |
AATTTGGGAT |
GTATTTATAC |
TAGAAAAGCT |
GCTTGTTGTT |
TATCTGAAAT |
TCAGAGTTAT |
CAGGTGTTCT |
GTATTTTACC |
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4001 |
TCCATCCTGG |
GGGAGGCGTC |
CTCCTCCTGG |
CTCTGCAGAT |
GAGGGAGCCG |
AGGCTCAGAG |
AGGCTGAATG |
TGCTGCCCAT |
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4081 |
GGTCCCACAT |
CCATGTGTGG |
CTGCACCAGG |
ACCTGACCTG |
TCCTTGGCGT |
GCGGGTTGTT |
CTCTGGAGAG |
TAAGGTGGCT |
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4161 |
GTGGGGAACA |
TCAATAAACC |
CCCATCTCTT |
CTAGATCAAA |
GATCCAGCTA |
ACAGGCGCTA |
CGAGGTGCCC |
TTGGAGACCC |
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4241 |
CGCATGTCCA |
CAGCCGGGCA |
CCGTCCCCAC |
TCTACAGCGT |
GGAGTTCTCC |
GAGGAGCCCT |
TCGGGGTGAT |
CGTGCGCCGG |
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4321 |
CAGCTGGACG |
GCCGCGTGCT |
GTGAGTTCTG |
GGCTCTGTGC |
CAGCATGATG |
GGGAGGGCGA |
CGCGCATTTC |
TCACACGGCA |
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4401 |
GGGAGGGCCA |
CACGCGTTTG |
TTTCTCACAC |
GATGGGCAGG |
GCGACACATG |
TTTGTTTCTC |
ACACGGCGGG |
GAGGGCGACG |
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4481 |
GGCATTTCTC |
ACAGGGCGCT |
CCCTGGGTCT |
TTTACTCACA |
TAGGTCTAAA |
TCCCATGTAA |
ACACGTGTTC |
AGGACTCACC |
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4561 |
AAGCCCCTGC |
TTGTCATTTA |
ACTCAGGAAA |
ACTCTCAGGA |
ACGACAGCAC |
TTGGATTTGC |
CTTAATCTTA |
AGAGAAGTTG |
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4641 |
CCTTCGGAAA |
TGCGTTTTTC |
TTTTTTTGCT |
CATTCATTTA |
CTCAGTGTCC |
ACGCACTGAC |
CCTCCGTGCC |
GGGTGGTTTG |
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4721 |
GATCCTGCTC |
CCGGGGACAG |
ACACACAGTG |
AGGGGAAGCC |
ATAAGCAAGT |
CCATGCAGAC |
ACAGCGTCAG |
GGAGTGGTCA |
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4801 |
TGCAGAGAGC |
ACGCTAGAAG |
CCAGCTGTGC |
AGACACGGGG |
CAGGGAGGTC |
CCCTCTAGAA |
GCCAGCTGTG |
CAGACGCAGG |
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4881 |
GGACAGGGAT |
GGCCTCTCTG |
GAAGCCAGCT |
GTGCAGATGT |
TGGGGGCAGG |
GGTGGCCTCT |
CTGGAAGCCA |
GCTGTGCAGG |
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4961 |
AGTGGGGGGT |
GGGGAGGCCA |
CTCTGGAAAC |
CAGCTGTGCA |
GATGCAGGGG |
ACAGGGGTGG |
CCTCTCTGAG |
CTGACCTCTG |
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5041 |
AGTAGAGAGA |
CCCAAGAGAA |
GTTTCTCAAA |
GCATCTTATC |
AAGCTAGGTA |
TGGTGGTTCA |
TGTCTGCAAT |
TCCAGCACTT |
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5121 |
TGGGAGGCCA |
AGGCGAGAGG |
GTCACTTGAG |
CCCAGGAGTT |
CAAGACCATC |
CTGGGCAACA |
TAGCAAGACC |
CCATCTCTTA |
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5201 |
AAAAATAAAA |
ATAAAAAATT |
AGCTGGGAAT |
TGTGGCACAT |
GCCTGTGGTC |
CCAGCTACTC |
AGGAGGCTGA |
GGCAAGAGGA |
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5281 |
TCCCTTGAGC |
CCAGGGGTTC |
GAGGTTGCAG |
TGAACCATGA |
TTTTGCCACT |
GCACTTCAGC |
CTTGCTGAAG |
ACCCCGTCTC |
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5361 |
AAAAAACAAA |
CAACAAACAG |
GCATCTTATC |
AGATCTCGGT |
CTTGAAAGCA |
CTCAGCGTAG |
TCTTGCCCAG |
GGGAGGGTGG |
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5441 |
GTGCGGTGTG |
AGCCCGTCCT |
GCGAAATTAG |
CTGTGCTGTG |
TTAACAGAGG |
ACGCGTCTTC |
CTGTGGACCG |
GGTTTATCTG |
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5521 |
CGGCTTTCAT |
TTCTCGGAGG |
TGCTGTTTGC |
CTTGCACTTG |
ACCCCCAGCA |
AACCTCAGGG |
GTCCTTCTCA |
GGCATGGCTG |
|
5601 |
GGCTGGGATC |
TGGGAGGACT |
TTGGCCACAA |
GCTCCTAGGC |
CTGGAAAGGT |
TCTGTTCAGC |
CCCTGCCCAG |
CCTTGCTTGG |
|
5681 |
GGTCATGGGA |
CAGGCATGTG |
TGCCAGTTCC |
GGTACCAGCC |
AGTTCCTGGA |
GGTCAGCCCC |
TTGGGGGCCC |
CTCAGGGGTG |
|
5761 |
GTGTGGGCCC |
AGCCAGGCGG |
TGCGCCTCTT |
CTGATATGCC |
CTGAGAGTTG |
ATCACGCTGG |
TGCCAGGGTG |
CCAAGGGCTG |
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5841 |
CAGGGCTCGG |
CACGGCCGCC |
TGTCCCAGGG |
TCAGTGTGCT |
GCAGGGCTGG |
CCAGGCCACT |
CCGCCCTCCC |
AGGGCACCAG |
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5921 |
GGCCCGGGGG |
TGCTCTCTGG |
GTGCTCTCAG |
GCTCGTGTGG |
CCCCTTGGGT |
GTGAGCAAGC |
CTGGCTGGCC |
TCTGTCCCGC |
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6001 |
AGGCTGAACA |
CGACGGTGGC |
GCCCCTGTTC |
TTTGCGGACC |
AGTTCCTTCA |
GCTGTCCACC |
TCGCTGCCCT |
CGCAGTATAT |
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6081 |
CACAGGCCTC |
GCCGAGCACC |
TCAGTCCCCT |
GATGCTCAGC |
ACCAGCTGGA |
CCAGGATCAC |
CCTGTGGAAC |
CGGGACCTTG |
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6161 |
CGCCCACGGT |
ACAGCGGCGG |
GCGGCGGGCG |
GGGGCACTGA |
GCTGGGGAGC |
GCAGGTGCTG |
AAGCGCCGTC |
TCCTGCATGT |
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6241 |
CCCAGCCCGG |
TGCGAACCTC |
TACGGGTCTC |
ACCCTTTCTA |
CCTGGCGCTG |
GAGGACGGCG |
GGTCGGCACA |
CGGGGTGTTC |
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6321 |
CTGCTAAACA |
GCAATGCCAT |
GGGTAAGCTG |
CCCGCCGCCC |
AGCGCCCGGG |
CCGGGGTCTC |
CTCCGTGCTG |
CCTGCCCTGG |
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6401 |
AGACTGGAGG |
TCCGCATGAG |
GGGCCCTGGG |
CACGGTGCTG |
GGCCTTGTGT |
TTTCTGGGAA |
ATGAGTCCTA |
TGGGCTGATG |
|
6481 |
CCTCTCCCAA |
CTCTGGCCTT |
CTGTGCTCCT |
AAGGAGGGTT |
CTGGGGCCCT |
GCCTGGAGGT |
GGGCTGGCAC |
CACATATCTT |
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6561 |
TCCGTCCCAT |
GCCAGGTTCC |
TCCTGAGTCA |
GGCTTAGCAC |
GGCTTCCCCA |
GGCCACTCTG |
AGCTCCTCGT |
GGGGAGAGAG |
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6641 |
CCTCAACTCT |
CCGCCTGTGA |
TTGGCCCATC |
TGTGGGGTGC |
AGAGCCCTCC |
AAGTGAAGAA |
TCTGTCCCCC |
AACCCCAGAG |
|
6721 |
CTGCTTCCCT |
TCCAGATGTG |
GTCCTGCAGC |
CGAGCCCTGC |
CCTTAGCTGG |
AGGTCGACAG |
GTGGGATCCT |
GGATGTCTAC |
|
6801 |
ATCTTCCTGG |
GCCCAGAGCC |
CAAGAGCGTG |
GTGCAGCAGT |
ACCTGGACGT |
TGTGGGTAGG |
GCCTGCTCCC |
TGGCCGCGGC |
|
6881 |
CCCCGCCCCA |
AGGCTCCCTC |
CTCCCTCCCT |
CATGAAGTCG |
GCGTTGGCCT |
GCAGGATACC |
CGTTCATGCC |
GCCATACTGG |
|
6961 |
GGCCTGGGCT |
TCCACCTGTG |
CCGCTGGGGC |
TACTCCTCCA |
CCGCTATCAC |
CCGCCAGGTG |
GTGGAGAACA |
TGACCAGGGC |
|
7041 |
CCACTTCCCC |
CTGGTGAGTT |
GGGGTGGTGG |
CAGGGGAGGC |
AAGGGGCTGG |
CCGGGACGCG |
TCTCCTCAGG |
CCCCAGCAGA |
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7121 |
CGGTCCCGTG |
TTGTGGCTGC |
AGGACGTCCA |
GTGGAACGAC |
CTGGACTACA |
TGGACTCCCG |
GAGGGACTTC |
ACGTTCAACA |
|
7201 |
AGGATGGCTT |
CCGGGACTTC |
CCGGCCATGG |
TGCAGGAGCT |
GCACCAGGGC |
GGCCGGCGCT |
ACATGATGAT |
CGTGGTGTGT |
|
7281 |
GCCCCCACAC |
TGTGGGTCTT |
TGGGAAGGGG |
GCCGCCCGGT |
GCCCAGTGGC |
TCCTTCTCTG |
TGCAGCGTCA |
TCCTCGTGCC |
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7361 |
TGTGTGGTCG |
CCGAGGATGT |
TTTCTGAGGG |
TCTTTGTGAT |
ATCGAGGGAA |
TATCAAGAAG |
TTTGCAGGCT |
TGGCCCCAGC |
|
7441 |
TGTCCAGGGA |
GGTCGGGTTT |
GAGGGTCCCC |
AGAAATGGCC |
GGGTGCTACT |
CAGGGTTCTG |
TCAGATGTAG |
GTTACTTGAA |
|
7521 |
CTGCCTTAAA |
GCAAAAGGCC |
AGGGGCATGA |
TAAACTGATG |
TCACCTGGTC |
CTGGAAAGTG |
GAGGGCCCGG |
TGGGCCTGGG |
|
7601 |
CATGGGTATC |
GCTGGAACTG |
TGGAGGCTCC |
GTGTGCCTTC |
TGGCCGTGCC |
TCTCCTTCTG |
GCCGGCTCTG |
AATCCCTGGA |
|
7681 |
AAGGACGGCG |
TGAGTGAGGG |
CAGCTTCCAG |
CCCTCATGCT |
GGCACCACAG |
AGCGGAGACT |
TCTTCCCATC |
AGCTCCCATA |
|
7761 |
GAAAAGTCCC |
AAAGCAGGAC |
TCTTGAGTCA |
CCCAGCACAA |
AGAGGCCCTT |
CCCTGAGCCA |
GTCCCACAGC |
CAGAAGGATG |
|
7841 |
CAGTTTGGGG |
GCTGGTCCAG |
CCCGAGTCTG |
GTGTCCGGCA |
CGATGGCCAG |
AGGAGGAGGT |
GGGAGGCAGG |
GCGAGCTGAA |
|
7921 |
AAGATCCAAC |
AGTTCCTGCC |
CGGAAGATCC |
ACTTCAGCAG |
AGGAAGCACA |
GATGAGATGT |
GGGGCTGTGC |
TGATGCTGCC |
|
8001 |
TGTTTCCATC |
CCTGCCTTCT |
GCAGGCAGCA |
AACAGTAGTA |
GCCCTTAAGA |
GCAGGAGTGG |
AAACACAGAC |
TTTTTTCTTT |
|
8081 |
CTCACATTTT |
TTTAATTATA |
AAAGAAAAGT |
GATTACTGTA |
GAACACTTGG |
GAAACTCTAG |
AGGTTTAAAG |
AAAAGGTAAA |
|
8161 |
GGTAAAGCTT |
CCATTCCGGC |
GCGCCCCTCA |
TCAGCCAGCT |
GGTCCTGACT |
CGCCCGGCCC |
TGGCTCCTCT |
CCAGGCAGGC |
|
8241 |
GTGTGCAGGC |
ATGTGCAGGT |
ACACAGGCAG |
GCATGCTGTA |
CACACGCATG |
ATGTCATCCC |
CAGCCTCATC |
CTCTCACTGT |
|
8321 |
CTCAGTTTTC |
CCCGTGGCTG |
GCGCCAGGGC |
TCTGGGCCAC |
CCTCACCTTG |
ACAGGTTTCC |
CTCTTCCCAG |
GATCCTGCCA |
|
8401 |
TCAGCAGCTC |
GGGCCCTGCC |
GGGAGCTACA |
GGCCCTACGA |
CGAGGGTCTG |
CGGAGGGGGG |
TTTTCATCAC |
CAACGAGACC |
|
8481 |
GGCCAGCCGC |
TGATTGGGAA |
GGTAGGGCGA |
GGGTCCAGGG |
GACGGGGGTT |
AGAAAGCAGA |
GGCCTCCAGC |
CAGGGGGAGC |
|
8561 |
CGGCAGCTGC |
TCAGGAAGAC |
GGTGGGATTT |
GAGGAGCCAT |
CACGCCCAGT |
GGGACAGCTG |
AGAGGAATGG |
GCCACAGTGG |
|
8641 |
CCCGTGACGA |
TGGTGGCTCC |
TACAAGGAAT |
GGCCCCGTGA |
GTTCTTCCAT |
CAGCAGGCCT |
TTGACTTCAT |
GGGCAGCTGG |
|
8721 |
GCCTGGCCCA |
GGCACAAGCC |
CTGCAGACCC |
TCAGTGAGGC |
CTTAGGGTCC |
TCCTTGTCCT |
CCCAGCCCCC |
CAGGGGCCTC |
|
8801 |
CAGGCAGGGC |
CCCCGCTGAG |
GGAGCAGCTA |
GGGAGGGTCT |
GGTGCGGATG |
TGAGGCTGCC |
TGGCAGGGCT |
TGCACGGGGC |
|
8881 |
CGTCTCCGCT |
GCCCTTCTCC |
CTGACGCTCT |
CTGGTTCTGC |
AGCCCAGCCC |
CTGGGTGGAC |
GTGTTGGGGG |
TGACCCCTCG |
|
8961 |
TTTTCCCAGG |
GTTGAGGCCC |
CTTGGCCCCG |
CATCAGTGCC |
TTGTGGAGAA |
AGAGCTGCTC |
ATTGACCTCC |
AGGGTGCAGG |
|
9041 |
TCTCTCAGAT |
TTGCAAATGT |
GGGCGTCCAC |
TAAGAGTGAG |
GCTGCCCCTC |
TGCTCAGGCT |
GAGGCTCAGT |
GGGGCTTCCA |
|
9121 |
TGCAGGCCCT |
GGGTGGGGCC |
GGGTCTCCCC |
ACTGCAGCCT |
CTCGTTGTCC |
AGGTATGGCC |
CGGGTCCACT |
GCCTTCCCCG |
|
9201 |
ACTTCACCAA |
CCCCACAGCC |
CTGGCCTGGT |
GGGAGGACAT |
GGTGGCTGAG |
TTCCATGACC |
AGGTGCCCTT |
CGACGGCATG |
|
9281 |
TGGATTGTAA |
GTGTGGCCCC |
CTCCTGAGCA |
TCCCCAAGGC |
CTCTGGGGAC |
TACCCCACCC |
TCCTCACTCT |
GGGCAGAGTC |
|
9361 |
ACCTACCAGC |
AGCGCTTCTC |
TTGCAGGACA |
TGAACGAGCC |
TTCCAACTTC |
ATCAGGGGCT |
CTGAGGACGG |
CTGCCCCAAC |
|
9441 |
AATGAGCTGG |
AGAACCCACC |
CTACGTGCCT |
GGTCAGCTCG |
CCCCCCACCT |
ACCCTGGGGA |
CTTAATCAAA |
TCAGAGACTC |
|
9521 |
CCTTGTCTGG |
CCTGGGAGAC |
TTAGCACCCT |
CATCTCTGAG |
AAGCAGATGG |
GCCAGCGGGG |
AAAGGGGCGG |
GGGGGGGATC |
|
9601 |
CCCAGGAGAA |
AGGCTCAGGC |
TGGGAGACTC |
AGCCAAGCAG |
TGCAGACAGG |
GTGGGTGCAG |
AGGCACAGGC |
CCTGCCGGAG |
|
9681 |
GAGACGCCGC |
TCACAGGTGC |
TTGCCAGAGC |
ACAGTGAGGC |
CGACTCGACT |
CAGAGCCGTC |
TCGATAGGCG |
CAGGGACCAT |
|
9761 |
GCAGCGGAGA |
CCTACCCACC |
CGTGGGGAGA |
GGTCAGGCCC |
AACTCGAATG |
CAGCACGGGC |
AAGTGGATTT |
CTAGCCAGGG |
|
9841 |
AGCAGGGTGG |
GCTCAGAGGC |
AGGAATTACC |
AAGAAGAAGC |
ATGGGGGTCA |
GGGGGATTCT |
GGCTGAACTG |
ACCCAGCAGG |
|
9921 |
ATTCTTGCTG |
AAGGCAGGCC |
AGGGTGACCA |
GACATCGCCT |
GAGGGGTGGT |
GGAGGTTGGG |
GCTTCTCGCC |
AAACTGTCTT |
|
10001 |
AGCAGGAATG |
GCAGAAACTG |
GGTTTTACAA |
GGAAGTACAA |
GGATGGGCCT |
GGGAGAAGGT |
TTGGGGGCCT |
GAGGCTATAG |
|
10081 |
TTTGGCCCAG |
CAAAGAATCA |
GTGAGAGGAT |
GGGGTTTTGG |
GCTTAGGTAA |
ACAGGCAGGG |
GAGTGCTTGA |
AATGGGCCAA |
|
10161 |
GAGACGGTGG |
ATGTGAAGTC |
TGGGGGTCTG |
CAGAGCCCAG |
GCTCCAGCAC |
CCGCCCAGCC |
CTGTCTTAGA |
AGCAGTGGAG |
|
10241 |
ATGATTACCC |
AGGTTCCCGG |
GTAACGCCAG |
CCCCACAGAG |
GCGTGGGGAG |
CGGCTGCAGG |
TGCACCTCCA |
GGGCCAGCCT |
|
10321 |
GAAGAGGCAG |
CGACCTGCAC |
AGGGGCTCCT |
GGGAGGTGGG |
GGGCAGGGAG |
GGCACCTTGG |
AGCCTGCCGG |
GAGGAAGCTC |
|
10401 |
CCTGGAAACC |
AGCCCCCGCC |
TCTTCCAGGG |
GTGGTTGGGG |
GGACCCTCCA |
GGCGGCCACC |
ATCTGTGCCT |
CCAGCCACCA |
|
10481 |
GTTTCTCTCC |
ACACACTACA |
ACCTGCACAA |
CCTCTACGGC |
CTGACCGAAG |
CCATCGCCTC |
CCACAGGTGA |
GGGCCACGTC |
|
10561 |
CCGCCCCACT |
GGGCTCTGCC |
CTCACAGCCT |
GTCCTACAAG |
GTTGGGGCCT |
CTGCAGGGCC |
TCAGGGAGGA |
GGAAAAGCGG |
|
10641 |
AGGCCCAGAC |
CACCCGGGGC |
CCGCTGGCGG |
CCCGAGTGCT |
CTCCCCACCC |
GCTGCCTGCA |
CCCCAGCCTG |
AAGCTGGAGC |
|
10721 |
GCTCCTTCCC |
ACTTCATGCC |
TGGGGCTTGG |
AGAGGAAGGA |
CCCTGGATGC |
TGACAGGAGT |
CTGCATCAGC |
GGGGACCTCA |
|
10801 |
TGACTCCTGT |
GAGGCTGGGG |
GGGGTCCTGG |
CTCACCTACA |
GGCATCAGGT |
GGCCCAGACA |
GAGGCAACTG |
TGCCCGCAGA |
|
10881 |
CATGGGCAGT |
AGCCTCGCCG |
TCCTCCTCCC |
CAGCCTCTGC |
CTCATCCCAG |
AAAGCTCCTT |
GCTCCCAGCT |
CTGCCCTGCT |
|
10961 |
GGTGACAGGG |
TTCCCGAGTG |
ACCCCGCTCC |
ACACAGCCCT |
CACGGTGTCC |
CCCACCACCC |
CAGGGCGCTG |
GTGAAGGCTC |
|
11041 |
GGGGGACACG |
CCCATTTGTG |
ATCTCCCGCT |
CGACCTTTGC |
TGGCCACGGC |
CGATACGCCG |
GCCACTGGAC |
GGGGGACGTG |
|
11121 |
TGGAGCTCCT |
GGGAGCAGCT |
CGCCTCCTCC |
GTGCCAGGTG |
AGCTCCTACC |
AGGAGGGGCT |
GCTCAGCAGA |
GTAGAGCCGG |
|
11201 |
GGGCCTCTAT |
GGGAGGCTTG |
CCGGGGCCCC |
CCACCCACTT |
AGCAGGTGGG |
GCTCTGGGTC |
ACTTGGCCTG |
AGCTGGCTCT |
|
11281 |
GCTGCAGCAG |
CCTGAGGACC |
AGCCTGACTC |
TGCCCTCCCA |
GAAATCCTGC |
AGTTTAACCT |
GCTGGGGGTG |
CCTCTGGTCG |
|
11361 |
GGGCCGACGT |
CTGCGGCTTC |
CTGGGCAACA |
CCTCAGAGGA |
GCTGTGTGTG |
CGCTGGACCC |
AGCTGGGGGC |
CTTCTACCCC |
|
11441 |
TTCATGCGGA |
ACCACAACAG |
CCTGCTCAGT |
CTGGTAGGGT |
GGGGGTGGCG |
GCATGGCAGG |
TGGGCGATCC |
CACCCACCCA |
|
11521 |
AGACTCTCCC |
CTGGGAATCC |
CACCCCTGCT |
GGAGAAGCAC |
CCCATGCTGG |
GTGGCTGAGA |
AGTGCAGCTC |
TCCCGAGGCG |
|
11601 |
GGGACTCCAG |
GGGACCGCGG |
CCCCAGCACC |
CAAGTGCTTC |
CTTTGCCCCC |
GCCTGCCCTG |
CAGCCCCAGG |
AGCCGTACAG |
|
11681 |
CTTCAGCGAG |
CCGGCCCAGC |
AGGCCATGAG |
GAAGGCCCTC |
ACCCTGCGCT |
ACGCACTCCT |
CCCCCACCTC |
TACACACTGT |
|
11761 |
TCCACCAGGC |
CCACGTCGCG |
GGGGAGACCG |
TGGCCCGGCC |
CCTCTTCCTG |
GAGTGAGTGA |
CCTAGGCAGG |
GGCGGTGGCC |
|
11841 |
CATGTGTGCC |
CTGGGGGAGG |
GGCACGTAAC |
TCCCAGGCAG |
CCCTGTCCTG |
CTGTGGGCTG |
TGTTCCCCAG |
GACCCAGCAG |
|
11921 |
GTTGCCGCTG |
AGTGAGACAA |
CATTTGGGCC |
TGGCTTAAGG |
GGGAAGGGCA |
GCAAGAAAAC |
CCAGTAATAT |
CCCCCAGACA |
|
12001 |
GGCCGTAGTA |
CACACGAGGA |
GTTCCTAACA |
ACAGCCCTGC |
ACATCAGTGT |
GTTGAGGGAG |
GATTCCCAGA |
GAGTGAGGTG |
|
12081 |
ATTAGTTAAC |
TATTTGCAGA |
AGTCAATTTA |
TTTTTCTTGC |
ATACCATAGA |
AACATAAGTT |
CCAGATAAAT |
TAAATAGTTA |
|
12161 |
ATGTCAAAAA |
TCAAGCTGTG |
GAGGCCAGGC |
ACGGTGGCTA |
ACGCCTGTAA |
TCCCAGAACT |
TTGGGAGGCT |
GAGGCGAGTG |
|
12241 |
GATCACCTGA |
GGTCAAGAGT |
TCGAGGCCAG |
CCTGGCCAAC |
ATGGTGAAAC |
CCATCTCTAC |
TAAAAATACA |
AAAATTAGCC |
|
12321 |
GTGCATGGTG |
GTGGGCGCCT |
GTAGTCCCTG |
CTACTCAGGA |
GGCTGAGGCC |
AGAGAATCCC |
TTGAACCTGG |
GAGGAGGAGA |
|
12401 |
TTGCAGTGAG |
CCGAGATCGC |
GCCACTGTAC |
TCCAGCCTGT |
GTGACTCCAT |
CTCAAAAAAA |
AAAAACCAAG |
CTGTGAAAGA |
|
12481 |
CTCCACAGGA |
AAAGATAAGT |
GAATGTGTAT |
CTCTGGGGAA |
AGGTTTCATT |
TAGAGAAAAA |
AAAAAAAAAA |
AGGTGAACTT |
|
12561 |
TATTTGACCA |
TAGCAGAAAA |
AAAAATGTAA |
ATCTCTGAAT |
ATAAACACAA |
AAAGATTAAA |
ACTGCTCTGA |
ACATGGACTG |
|
12641 |
TAACAGCAGA |
GAAGGCATTG |
TCAATAAAAC |
AGCAAATAGC |
TACTCTTCCT |
AATAGGTAGA |
GAACTCATAC |
GTTGGTAAGA |
|
12721 |
CCAAGACTAA |
GAACCAAATT |
GGAGGAACAC |
TGTTTGCAAA |
ACAGGAGATA |
CGAATGGTAT |
CCACACATTC |
TTCACCCGGA |
|
12801 |
AATCCAAGAA |
ACGCAATTTG |
TGTTTTAATT |
ACTATTTTAA |
TGACCTTGTT |
GTTTCTGTCA |
CTACACTTTT |
TTTTTTTTTT |
|
12881 |
TTTTAGTGGT |
TGCCCTAGGG |
ATTACAATTA |
ACATCTTAAT |
TTTAGCCTCG |
TTGGAACTGA |
TGCCAACTTG |
CTTTCAATAG |
|
12961 |
CATAAAAAAG |
CTTTGCTTCT |
ATGTGGTTTC |
CATTGCCTCT |
CGTTCCTCTG |
TGCTGTTACA |
CGTCTGTATC |
CATGATGAGC |
|
13041 |
CCATCCACGC |
AGATTTATAA |
TGACCGCCTT |
ATTCAATTAT |
CTTTTAAGTC |
AAATAGGAGG |
GAAAAATGGG |
TTACAAACAA |
|
13121 |
AAAGTACATA |
CACACTGTCT |
GCCTTTTATA |
TTTACTGATG |
TAGTTACCTT |
TACCCATGGT |
TTTATTTCTT |
CATGTGGCTT |
|
13201 |
TGACTTCTTG |
TCTAACATCT |
TTCATTTACA |
GCAGAAGGAC |
TCCCTTTAGT |
ATTTATTGTA |
GGGCAGTTCT |
GCTAGTGATG |
|
13281 |
AATTCTCTCA |
GTTTTTGTTG |
ACTTCAGAGT |
CTCTTAATTT |
CTCCTTCATT |
TTTTGAAAGT |
TCTGCTCAAC |
GTAGGGTTCT |
|
13361 |
TGACTGGCGG |
TCGTTTCTCT |
GAACACTTTG |
AACTTGTCAG |
CCCATGGCCT |
CCGTGGTTTC |
TGCTGAGTAG |
CTTCTGTCTT |
|
13441 |
GCCTCTTCCC |
AGATTCTCTG |
TCTTTGGCCT |
TTGAAGTCCC |
GATGGTGTGT |
CTAGGTGTAG |
ATCTCTGAGT |
TTATCTTACT |
|
13521 |
GGGAGTTTGT |
TGAGCTTCTT |
GGACGTATGC |
ATTGATGTTT |
TTCATCAAAC |
TTGGGCGGTT |
TTTCAGCCAT |
TACTTCATAA |
|
13601 |
AATATTTTTT |
CTGCCCCTTT |
CTGTCTTCTA |
CTCTGGGACT |
TCCGTTCCAC |
ACATTGGTAT |
GCTTGACGGT |
GCCCAGGGGT |
|
13681 |
CTTTGCAGCT |
CTGTTGACTC |
CTTCCTCGTT |
GTGTTTTCTT |
TCTGTTCTTC |
AGACTGCTTA |
GTCTGACTGC |
CCTGTCTTCA |
|
13761 |
AGGTCACTGA |
TTCTTTTTTC |
CACCAGTTCT |
CATCTGCTGT |
TGAGCCCCTC |
TAGTGAACTT |
CTCATTTTAG |
TTGCTCTCTT |
|
13841 |
TTCAACTCCA |
GAATTTCTGT |
TTCATTCCTT |
TACGTTTCTC |
TCGTTAAGGA |
TATTCCCTAT |
CTGGTGAGTC |
ATGTTCTCAC |
|
13921 |
ACTTTCCTTT |
AGTTCTTCAG |
ACACGGTTTC |
GCTGAGCTCT |
TTGAACACAT |
TTAAAGTAGC |
TGACGTAAAC |
TCTTTGTCTA |
|
14001 |
GTAAGTCCAA |
TGTCTGGGCT |
TCTCTAGGGA |
CAATTTTTAT |
TAACTACTGT |
CCCCCCATCT |
GTGGGCCATA |
CTTTCTTGTT |
|
14081 |
TCTTTGCGTG |
TCTCATACAT |
TTTTGTTTCA |
GACTGGACAT |
TTTAAACGCA |
GCTGCTGTGG |
TCATCAGATT |
CCCCATCCCC |
|
14161 |
CTCAGGTCTC |
GTTGCTATTG |
CTGATTGTTT |
TGTGACTTTC |
TTGAGCTAAT |
TCCATAAGGT |
CTGTGTTCTT |
CATTGTGTGT |
|
14241 |
GGCCACCAAA |
GTCTCTGCTT |
GACTAGCTTA |
GTGGACAGCC |
AATAATTGGT |
CAGATATCCT |
TCACAGATGG |
CATCCGTGAG |
|
14321 |
TCTCCCAGCC |
TTTGCTGGGG |
CGAGGTGGGG |
AGCACCGTCA |
ACACTTAGCT |
AGGCCAAGGA |
TTCTTGCTGT |
TCTTACAAAG |
|
14401 |
ATTCAGCCAT |
TTTGTTAAAT |
ACATGCTCCC |
CAGATGGCTG |
CAAACCCTTG |
GTTAGTTTCA |
AGAGTCCTAA |
AAATGTCAAC |
|
14481 |
TCTGACCATT |
TTTGCCGATG |
TTCCTGTTTT |
CACAGAGGAG |
AGGATCTTGA |
GAGGGGCTTA |
CTCCACCATC |
TTCACTGACA |
|
14561 |
TCACTCCAAG |
AAATGTATTT |
TGCAAGAAAT |
ATTTTGAAGC |
AGAAAGACAC |
CATTTATTTT |
GCCCATGAAT |
TAGAATACAT |
|
14641 |
TAGAGAAAAT |
AAGACTATCC |
CTTGCTGGCA |
AGAACACAGT |
GACACAGTAG |
GGTGGAATAT |
AAATTGGCAC |
ATTTGTGGAA |
|
14721 |
AGCAACAGTA |
CATATCAGTC |
AATGTTTTTG |
AGATTCACAT |
TGATGCGTTA |
ATTTTACAAA |
TAGAAATAGG |
GCCTAAAGAA |
|
14801 |
GTCACCTCAA |
AAGGCATGAA |
CGCTCCATGA |
ATGTATCCAT |
GCAGGGATCA |
TAGCTGAGCA |
CTGGATGCCC |
CCTGCACGTC |
|
14881 |
CGGGGGCAGG |
AAACAGGACA |
GGGCAGAGCT |
GCGTCACAGG |
GCAGGACAGT |
CTCCGTTAGA |
CGGAGAATCC |
TCCGTAGAGC |
|
14961 |
TGCTTGCACA |
TGTACATTCA |
TCTTTTTGTC |
AGATGTTAAT |
TCAAGTTGCC |
TTTGGTTGTG |
GGACTGGGAG |
GATCTTTTCT |
|
15041 |
CTTTGTTGAT |
ACTTTTTCGT |
ACTTTCCAAA |
TACTTGACTG |
ATGAGCACAT |
GCTGCCTTGG |
TTACCGGAGG |
ATAAGTGAGC |
|
15121 |
GAGCAAAGTG |
AGGCCAGTGC |
TGTGTCCATC |
CTGGTGCCTC |
AAGCACAAGC |
CCCTATTCCT |
GCCCTGAGCC |
CAGCTGCCGG |
|
15201 |
CATGTCCGGG |
GAGAAGGCTT |
CTCCCAGCTC |
CGGCATTGAC |
TTCTATCTGC |
TGGAATCATC |
CCTGCCCGTC |
TGACCTGAGT |
|
15281 |
CCTCCAAGTC |
CTCCGGCACC |
TTGAGCTCCA |
GAGAGCAGAA |
TTCAGCCTCT |
TCCTGTGCCT |
CCCCAGGGTG |
GGCATATGAG |
|
15361 |
CCAGCCCCAT |
CCCATTCATC |
ACCCGTATGC |
CTGTGTGCCC |
ATCCCCCTTG |
CAGGTTCCCC |
AAGGACTCTA |
GCACCTGGAC |
|
15441 |
TGTGGACCAC |
CAGCTCCTGT |
GGGGGGAGGC |
CCTGCTCATC |
ACCCCAGTGC |
TCCAGGCCGG |
GAAGGCCGAA |
GTGACTGGCT |
|
15521 |
ACTTCCCCTT |
GGGCACATGG |
TACGACCTGC |
AGACGGTGAG |
TCTGGGGACC |
CTAAGCCCTG |
GGGAGACGGG |
AGACCAGAGC |
|
15601 |
AGCCCTCCCA |
CCTGCCCCCT |
CCACCCAGTT |
GGTGTGACCA |
GGTGGCGGAA |
AGAGGAACGT |
ATGTGTTGAG |
TCCCGGCCAT |
|
15681 |
GTGCCAGGCC |
CCCACCCGGC |
TGCTCCGCAC |
CCATCAGCCT |
CTCCGCTCCT |
CACACCATCC |
CCATTTCCCA |
GATGAGCAGA |
|
15761 |
CTGAGGCCTG |
CTTGCAGAAC |
CTGGCCAAGT |
CCCACGGCCA |
TCACAGGCTG |
TGCCTGTGCT |
GAGCTGGCAT |
ACCCAGGCCT |
|
15841 |
CTCAGGCACT |
GTCCCCACTC |
AGTAGCCAGG |
AGGGTCCCTA |
CCTACAGTGA |
GCCCTGAGTC |
TGCGCCTGAA |
GTCACAGTTC |
|
15921 |
AGCCCGTCTG |
TGCCAGGCCT |
CCTAGGCCTC |
CACGTGGAGC |
CCCGGGAGAT |
GGAGAGCGTG |
GTTCCTGAGG |
ACAGCATGGG |
|
16001 |
GGCCTCGGCA |
CGGCCCAGAA |
TCCTCAAAGC |
AACATCTCCC |
TCCAGGTGCC |
AGTAGAGGCC |
CTTGGCAGCC |
TCCCACCCCC |
|
16081 |
ACCTGCAGCT |
CCCCGTGAGC |
CAGCCATCCA |
CAGCGAGGGG |
CAGTGGGTGA |
CGCTGCCGGC |
CCCCCTGGAC |
ACCATCAACG |
|
16161 |
TCCACCTCCG |
GGCTGGGTAC |
ATCATCCCCC |
TGCAGGTACC |
TGGGCCAGGC |
GGCTATGGTG |
GGGGTGTGGA |
CAGCACACTG |
|
16241 |
CAGAGCTGGG |
GGAGGCACAG |
GGAGATGGTG |
GGGGAGAGGC |
CCAGGTGGGG |
CTTCTGAGGG |
GCCGCCCCCC |
GCAGTGTAGG |
|
16321 |
TTATCAAGGA |
GCCAGCCAGG |
CCAGTGAGGT |
GGGGAGGGCA |
CAGCCCCACA |
AAGGCGTGGA |
GCATGGCCGG |
CAGGAGCTCA |
|
16401 |
GTGGTCTGCA |
TGGTGGAGGT |
TCTGCCGGGC |
CCGGCCTCGG |
GCAGCCGTGG |
GATAGCACTT |
GAGGTGGGGA |
AGGTCTTGGG |
|
16481 |
TCATCACCAC |
GGGGTTCCAG |
CCCCTGCGGC |
CGCAGGTGTT |
CCTGCAGATC |
CTAGTTACTG |
GCAGCCTGGT |
GCTGTACCAG |
|
16561 |
CCTAGCATTC |
CCGGGCCCTG |
GAGGCCTCCA |
CCTCCACCAG |
GGTGGGGATG |
ATGACATCAC |
GTGTCCTTCC |
CTTTCCAGGG |
|
16641 |
CCCTGGCCTC |
ACAACCACAG |
AGTCCCGCCA |
GCAGCCCATG |
GCCCTGGCTG |
TGGCCCTGAC |
CAAGGGTGGG |
GAGGCCCGAG |
|
16721 |
GGGAGCTGTT |
CTGGGACGAT |
GGAGAGAGCC |
TGGAAGTGCT |
GGAGCGAGGG |
GCCTACACAC |
AGGTCATCTT |
CCTGGCCAGG |
|
16801 |
AATGTGAGTC |
CTGGGGCTGC |
TCAGGCTGGT |
GGGCAGGGGC |
CGGCTCGGGG |
TTGAGAAGGG |
GTGAGGGGAC |
CTGGGCTTGG |
|
16881 |
GGGTCCCACG |
ATGGCTACCT |
GCCACTAGGA |
CACTCTAGCA |
GGTGGCCTGG |
GGTCCTAGAG |
TGAGCAGTGG |
GGCCGTGCAC |
|
16961 |
TCTGCCCTTT |
CGTGTACACA |
GAGGGAGGTC |
ACCTCCCTGA |
TGCCATCATG |
AGTCCCTGTT |
CTCATGGGTG |
TTCCTGCCCC |
|
17041 |
AGCTGTCTGC |
TGACACCTCC |
ACATTCTCTG |
CCTTTTCATC |
TCTCTCTGCT |
CGGCCCAGAA |
CACGATCGTG |
AATGAGCTGG |
|
17121 |
TACGTGTGAC |
CAGTGAGGGA |
GCTGGCCTGC |
AGCTGCAGAA |
GGTGACTGTC |
CTGGGCGTGG |
CCACGGCGCC |
CCAGCAGGTC |
|
17201 |
CTCTCCAACG |
GTGTCCCTGT |
CTCCAACTTC |
ACCTACAGCC |
CCGACACCAA |
GGCAAGAGGG |
CCCAGAGTGG |
CACAGGGATC |
|
17281 |
GCGTCCCCCA |
GCCGTGGTGC |
AGGGGGCAGA |
AGGTGCTGGG |
CGTCCTGGTG |
ACCGATGCCA |
GGAACAGAGG |
ATGCTGGGAC |
|
17361 |
CTCCCAAGGG |
GGTCTTTGGG |
GAGGAGTGGG |
AAGGGTCAGG |
CCACACAGGC |
TGTGCCTTTC |
CTCCTCCTGT |
GTCTACACGT |
|
17441 |
GGGTGATGGG |
GCCACAATGA |
CGACCTCTGA |
GCCGTGTTGA |
AGCAGCACCG |
CGTTTCTGGC |
GTGCGTTAAG |
GTGACCCGCA |
|
17521 |
CTGAGAGCCG |
GGGTCCCCCT |
GCGCCTGCCG |
GGGAGGAACC |
GGGTGCGAAG |
CATCCCAGGG |
CCAGACGGAG |
CTGCCCCCTG |
|
17601 |
AGCGCCGGGC |
CTCGCTGCTG |
CTGGGATCTC |
GGGGCCAGAT |
GGAGCCGCCT |
TCTGAGCGCT |
GGGGTCTCAC |
TGCTGCTGGG |
|
17681 |
ATCTCGGGCT |
GCTCCATTTG |
TGCTCTCTCT |
TTTCCAGGTC |
CTGGACATCT |
GTGTCTCGCT |
GTTGATGGGA |
GAGCAGTTTC |
|
17761 |
TCGTCAGCTG |
GTGTTAGCCG |
GGCGGAGTGT |
GTTAGTCTCT |
CCAGAGGGAG |
GCTGGTTCCC |
CAGGGAAGCA |
GAGCCTGTGT |
|
17841 |
GCGGGCAGCA |
GCTGTGTGCG |
GGCCTGGGGG |
TTGCATGTGT |
CACCTGGAGC |
TGGGCACTAA |
CCATTCCAAG |
CCGCCGCATC |
|
17921 |
GCTTGTTTCC |
ACCTCCTGGG |
CCGGGGCTCT |
GGCCCCCAAC |
GTGTCTAGGA |
GAGCTTTCTC |
CCTAGATCGC |
ACTGTGGGCC |
|
18001 |
GGGGCCCTGG |
AGGGCTGCTC |
TGTGTTAATA |
AGATTGTAAG |
GTTTGCCCTC |
CTCACCTGTT |
GCCGGCATGC |
GGGTAGTATT |
|
18081 |
AGCCACCCCC |
CTCCATCTGT |
TCCCAGCACC |
GGAGAAGGGG |
GTGCTCAGGT |
GGAGGTGTGG |
GGTATGCACC |
TGAGCTCCTG |
|
18161 |
CTTCGCGCCT |
GCTGCTCTGC |
CCCAACGCGA |
CCGCTGCCCG |
GCTGCCCAGA |
GGGCTGGATG |
CCTGCCGGTC |
CCCGAGCAAG |
|
18241 |
CCTGGGAACT |
CAGGAAAATT |
CACAGGACTT |
GGGAGATTCT |
AAATCTTAAG |
TGCAATTATT |
TTTAATAAAA |
GGGGCATTTG |
|
18321 |
GAATC |
|
|
|
|
|
|
|
|
|
|
|
|
>ref|Gene_ID:2548|GAA|NC_000017.10:78075354...78093678 (+)
GACCCGCCTCTGCGCGCCCCCGGGCACGACCCCGGAGTCTCCGCGGGCGGCCAGGGCGCGCGTGCGCGGAGGTGAGCCGG
GCCGGGGCTGCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGTGGGGCGGTCGGCTGCCCGCGCGGCCTCTCAGTTGGGAAA
GCTGAGGTTGTCGCCGGGGCCGCGGGTGGAGGTCGGGGATGAGGCAGCAGGTAGGACAGTGACCTCGGTGACGCGAAGGA
CCCCGGCCACCTCTAGGTTCTCCTCGTCCGCCCGTTGTTCAGCGAGGGAGGCTCTGCGCGTGCCGCAGCTGACGGGGAAA
CTGAGGCACGGAGCGGGTGAGACACCTGACGTCTGCCCCGCGCTGCCGGCGGTAACATCCCAGAAGCGGGTTTGAACGTG
CCTAGCCGTGCCCCCAGCCTCTTCCCCTGAGCGGAGCTTGAGCCCCAGACCTCTAGTCCTCCCGGTCTTTATCTGAGTTC
AGCTTAGAGATGAACGGGGAGCCGCCCTCCTGTGCTGGGCTTGGGGCTGGAGGCTGCATCTTCCCGTTTCTAGGGTTTCC
TTTCCCCTTTTGATCGACGCAGTGCTCAGTCCTGGCCGGGACCCGAGCCACCTCTCCTGCTCCTGCAGGACGCACATGGC
TGGGTCTGAATCCCTGGGGTGAGGAGCACCGTGGCCTGAGAGGGGGCCCCTGGGCCAGCTCTGAAATCTGAATGTCTCAA
TCACAAAGACCCCCTTAGGCCAGGCCAGGGGTGACTGTCTCTGGTCTTTGTCCCTGGTTGCTGGCACATAGCACCCGAAA
CCCTTGGAAACCGAGTGATGAGAGAGCCTTTTGCTCATGAGGTGACTGATGACCGGGGACACCAGGTGGCTTCAGGATGG
AAGCAGATGGCCAGAAAGACCAAGGCCTGATGACGGGTTGGGATGGAAAAGGGGTGAGGGGCTGGAGATTGAGTGAATCA
CCAGTGGCTTAGTCAACCATGCCTGCACAATGGAACCCCGTAAGAAACCACAGGGATCAGAGGGCTTCCCGCCGGGTTGT
GGAACACACCAAGGCACTGGAGGGTGGTGCGAGCAGAGAGCACAGCATCACTGCCCCCACCTCACACCAGGCCCTACGCA
TCTCTTCCATACGGCTGTCTGAGTTTTATCCTTTGTAATAAACCAGCAACTGTAAGAAACGCACTTTCCTGAGTTCTGTG
ACCCTGAAGAGGGAGTCCTGGGAACCTCTGAATTTATAACTAGTTGATCGAAAGTACAAGTGACAACCTGGGATTTGCCA
TTGGCCTCTGAAGTGAAGGCAGTGTTGTGGGACTGAGCCCTTAACCTGTGGAGTCTGTGCTGACTCCAGGTAGTGTCAAG
ATTGAATTGAATTGTAGGACACCCAGCCGTGTCCAGAAAGTTGCAGAATTGATGGGTGTGAGAAAAACCCTACACATTTA
ATGTCAGAAGTGTGGGTAAAATGTTTCACCCTCCAGCCCAGAGAGCCCTAATTTACCAGTGGCCCACGGTGGAACACCAC
GTCCGGCCGGGGGCAGAGCGTTCCCAGCCAAGCCTTCTGTAACATGACATGACAGGTCAGACTCCCTCGGGCCCTGAGTT
CACTTCTTCCTGGTATGTGACCAGCTCCCAGTACCAGAGAAGGTTGCACAGTCCTCTGCTCCAAGGAGCTTCACTGGCCA
GGGGCTGCTTTCTGAAATCCTTGCCTGCCTCTGCTCCAAGGCCCGTTCCTCAGAGACGCAGACCCCTCTGATGGCTGACT
TTGGTTTGAGGACCTCTCTGCATCCCTCCCCCATGGCCTTGCTCCTAGGACACCTTCTTCCTCCTTTCCCTGGGGTCAGA
CTTGCCTAGGTGCGGTGGCTCTCCCAGCCTTCCCCACGCCCTCCCCATGGTGTATTACACACACCAAAGGGACTCCCCTA
TTGAAATCCATGCATATTGAATCGCATGTGGGTTCCGGCTGCTCCTGGGAGGAGCCAGGCTAATAGAATGTTTGCCATAA
AATATTAATGTACAGAGAAGCGAAACAAAGGTCGTTGGTACTTGTTAACCTTACCAGCAGAATAATGAAAGCGAACCCCC
ATATCTCATCTGCACGCGACATCCTTGTTGTGTCTGTACCCGAGGCTCCAGGTGCAGCCACTGTTACAGAGACTGTGTTT
CTTCCCCATGTACCTCGGGGGCCGGGAGGGGTTCTGATCTGCAAAGTCGCCAGAGGTTAAGTCCTTTCTCTCTTGTGGCT
TTGCCACCCCTGGAGTGTCACCCTCAGCTGCGGTGCCCAGGATTCCCCACTGTGGTATGTCCGTGCACCAGTCAATAGGA
AAGGGAGCAAGGAAAGGTACTGGGTCCCCCTAAGGACATACGAGTTGCCAGAATCACTTCCGCTGACACCCAGTGGACCA
AGCCGCACCTTTATGCAGAAGTGGGGCTCCCAGCCAGGCGTGGTCACTCCTGAAATCCCAGCACTTCGGAAGGCCAAGGG
GGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGTAACATGGCAAAATCCCGTCTCTACAAAAATACAGAAAA
TTAGCTGGGTGCGGTGGTGTGTGCCTACAGTCCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTGCTTGAGTCTGGGAGG
TGGAGGTTGCAGTGAGCCAGGATCTCACCACAGCACTCTGGCCCAGGCGACAGCTGTTTGGCCTGTTTCAAGTGTCTACC
TGCCTTGCTGGTCTTCCTGGGGACATTCTAAGCGTGTTTGATTTGTAACATTTTAGCAGACTGTGCAAGTGCTCTGCACT
CCCCTGCTGGAGCTTTTCTCGCCCTTCCTTCTGGCCCTCTCCCCAGTCTAGACAGCAGGGCAACACCCACCCTGGCCACC
TTACCCCACCTGCCTGGGTGCTGCAGTGCCAGCCGCGGTTGATGTCTCAGAGCTGCTTTGAGAGCCCCGTGAGTGCCGCC
CCTCCCGCCTCCCTGCTGAGCCCGCTTTCTTCTCCCGCAGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGT
GAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACA
TCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCAC
CAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGA
CGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCT
ACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTAC
AAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGA
CATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGG
CGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTG
TGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGAC
AGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTT
GCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAA
AATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACC
TCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCAT
GGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCT
GTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCC
CGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGG
CAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCA
GGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACG
GGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACC
AAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTG
CCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTG
GATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCA
TGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGG
GGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGG
AGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTG
AGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTT
TGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTA
AAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGA
TCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTC
AAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGG
GTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTG
CGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTG
GGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGG
GGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTG
GTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTG
CAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAG
GGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGC
AGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATAT
CACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTG
CGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTCTCCTGCATGT
CCCAGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTC
CTGCTAAACAGCAATGCCATGGGTAAGCTGCCCGCCGCCCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGG
AGACTGGAGGTCCGCATGAGGGGCCCTGGGCACGGTGCTGGGCCTTGTGTTTTCTGGGAAATGAGTCCTATGGGCTGATG
CCTCTCCCAACTCTGGCCTTCTGTGCTCCTAAGGAGGGTTCTGGGGCCCTGCCTGGAGGTGGGCTGGCACCACATATCTT
TCCGTCCCATGCCAGGTTCCTCCTGAGTCAGGCTTAGCACGGCTTCCCCAGGCCACTCTGAGCTCCTCGTGGGGAGAGAG
CCTCAACTCTCCGCCTGTGATTGGCCCATCTGTGGGGTGCAGAGCCCTCCAAGTGAAGAATCTGTCCCCCAACCCCAGAG
CTGCTTCCCTTCCAGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCTAC
ATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGTAGGGCCTGCTCCCTGGCCGCGGC
CCCCGCCCCAAGGCTCCCTCCTCCCTCCCTCATGAAGTCGGCGTTGGCCTGCAGGATACCCGTTCATGCCGCCATACTGG
GGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAGGGC
CCACTTCCCCCTGGTGAGTTGGGGTGGTGGCAGGGGAGGCAAGGGGCTGGCCGGGACGCGTCTCCTCAGGCCCCAGCAGA
CGGTCCCGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACA
AGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGT
GCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCC
TGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGC
TGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAA
CTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGG
CATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGA
AAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACTTCTTCCCATCAGCTCCCATA
GAAAAGTCCCAAAGCAGGACTCTTGAGTCACCCAGCACAAAGAGGCCCTTCCCTGAGCCAGTCCCACAGCCAGAAGGATG
CAGTTTGGGGGCTGGTCCAGCCCGAGTCTGGTGTCCGGCACGATGGCCAGAGGAGGAGGTGGGAGGCAGGGCGAGCTGAA
AAGATCCAACAGTTCCTGCCCGGAAGATCCACTTCAGCAGAGGAAGCACAGATGAGATGTGGGGCTGTGCTGATGCTGCC
TGTTTCCATCCCTGCCTTCTGCAGGCAGCAAACAGTAGTAGCCCTTAAGAGCAGGAGTGGAAACACAGACTTTTTTCTTT
CTCACATTTTTTTAATTATAAAAGAAAAGTGATTACTGTAGAACACTTGGGAAACTCTAGAGGTTTAAAGAAAAGGTAAA
GGTAAAGCTTCCATTCCGGCGCGCCCCTCATCAGCCAGCTGGTCCTGACTCGCCCGGCCCTGGCTCCTCTCCAGGCAGGC
GTGTGCAGGCATGTGCAGGTACACAGGCAGGCATGCTGTACACACGCATGATGTCATCCCCAGCCTCATCCTCTCACTGT
CTCAGTTTTCCCCGTGGCTGGCGCCAGGGCTCTGGGCCACCCTCACCTTGACAGGTTTCCCTCTTCCCAGGATCCTGCCA
TCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACC
GGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGC
CGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGG
CCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGG
GCCTGGCCCAGGCACAAGCCCTGCAGACCCTCAGTGAGGCCTTAGGGTCCTCCTTGTCCTCCCAGCCCCCCAGGGGCCTC
CAGGCAGGGCCCCCGCTGAGGGAGCAGCTAGGGAGGGTCTGGTGCGGATGTGAGGCTGCCTGGCAGGGCTTGCACGGGGC
CGTCTCCGCTGCCCTTCTCCCTGACGCTCTCTGGTTCTGCAGCCCAGCCCCTGGGTGGACGTGTTGGGGGTGACCCCTCG
TTTTCCCAGGGTTGAGGCCCCTTGGCCCCGCATCAGTGCCTTGTGGAGAAAGAGCTGCTCATTGACCTCCAGGGTGCAGG
TCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCA
TGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCG
ACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATG
TGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTC
ACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAAC
AATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTC
CCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATC
CCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAG
GAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCAT
GCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGG
AGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGG
ATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTT
AGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAG
TTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAA
GAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAG
ATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCT
GAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTC
CCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCA
GTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTC
CCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGG
AGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGC
GCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCA
TGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGA
CATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCT
GGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTC
GGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTG
TGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGG
GGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCT
GCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCG
GGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCC
TTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCA
AGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCG
GGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAG
CTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGT
TCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCC
CATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAG
GTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACA
GGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTG
ATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTA
ATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTG
GATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCC
GTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGA
TTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGA
CTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTT
TATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTG
TAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGA
CCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGA
AATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTT
TTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAG
CATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGC
CCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAA
AAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTT
TGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATG
AATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCT
TGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTT
GCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACT
GGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAA
AATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGT
CTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCA
AGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTT
TTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCAC
ACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTA
GTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTT
TCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCC
CTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGT
GGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAG
TCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAG
ATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAAC
TCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACA
TCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACAT
TAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAA
AGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAA
GTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTC
CGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGC
TGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCT
CTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGC
GAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGG
CATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGT
CCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAG
CCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGAC
TGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCT
ACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGC
AGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCAT
GTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGA
CTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCT
CTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTC
AGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGG
GGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCC
ACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACG
TCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTG
CAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGG
TTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCA
GTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGG
TCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAG
CCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGG
CCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAG
GGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGG
AATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGG
GGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCAC
TCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCC
AGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGG
TACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTC
CTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATC
GCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGAC
CTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGT
GGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCA
CTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTG
AGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGG
ATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTC
TCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGT
GCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATC
GCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCC
GGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATT
AGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTG
CTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAG
CCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTG
GAATC
|
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| |
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|
Primary source |
RefSeq : NM_000152.3 (GI:119393890)
|
Name |
Glucosidase, alpha; acid (GAA), transcript variant 1
|
Type of transcript |
mRNA
|
Organism |
Homo sapiens
|
Length |
3782 nt
|
Map |
17q25.2-q25.3
|
Location |
Chromosome 17 (NC_000017.10) strand : +
78075354...78075688 | 78078353...78078930 | 78079547...78079692 | 78081355...78081520 |
78081598...78081694 | 78082088...78082207 | 78082287...78082405 | 78082495...78082626 |
78083743...78083853 | 78084525...78084638 | 78084739...78084823 | 78085781...78085898 |
78086376...78086509 | 78086674...78086825 | 78087016...78087164 | 78090766...78090907 |
78091398...78091547 | 78091991...78092155 | 78092451...78092603 | 78093070...78093678 |
|
|
|
|
|
|
|
|
|
|
|
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|
Exon(s) |
Start |
End |
Length |
is coding |
Exon 1b
|
1
|
335
|
335
|
1
|
Exon 2
|
336
|
913
|
578
|
1
|
Exon 3
|
914
|
1059
|
146
|
1
|
Exon 4
|
1060
|
1225
|
166
|
1
|
Exon 5
|
1226
|
1322
|
97
|
1
|
Exon 6
|
1323
|
1442
|
120
|
1
|
Exon 7
|
1443
|
1561
|
119
|
1
|
Exon 8
|
1562
|
1693
|
132
|
1
|
Exon 9
|
1694
|
1804
|
111
|
1
|
Exon 10
|
1805
|
1918
|
114
|
1
|
Exon 11
|
1919
|
2003
|
85
|
1
|
Exon 12
|
2004
|
2121
|
118
|
1
|
Exon 13
|
2122
|
2255
|
134
|
1
|
Exon 14
|
2256
|
2407
|
152
|
1
|
Exon 15
|
2408
|
2556
|
149
|
1
|
Exon 16
|
2557
|
2698
|
142
|
1
|
Exon 17
|
2699
|
2848
|
150
|
1
|
Exon 18
|
2849
|
3013
|
165
|
1
|
Exon 19
|
3014
|
3166
|
153
|
1
|
Exon 20
|
3167
|
3775
|
609
|
1
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Primary source |
NCBI : CCDS32760
|
Nucleotide |
GAA, mRNA isoform 1[NM_000152.3] : 368...3226
|
Length |
2859
|
Location |
Chromosome 17 (NC_000017.10) strand : +
78078385...78078930 | 78079547...78079692 | 78081355...78081520 | 78081598...78081694 |
78082088...78082207 | 78082287...78082405 | 78082495...78082626 | 78083743...78083853 |
78084525...78084638 | 78084739...78084823 | 78085781...78085898 | 78086376...78086509 |
78086674...78086825 | 78087016...78087164 | 78090766...78090907 | 78091398...78091547 |
78091991...78092155 | 78092451...78092603 | 78093070...78093129 |
|
Start codon |
1
|
Translation |
NP_000143.2 |
|
|
|
|
|
|
|
|
|
|
|
|
1 |
ACCCGCCTCT |
GCGCGCCCCC |
GGGCACGACC |
CCGGAGTCTC |
CGCGGGCGGC |
CAGGGCGCGC |
GTGCGCGGAG |
GTGAGCCGGG |
|
81 |
CCGGGGCTGC |
GGGGCTTCCC |
TGAGCGCGGG |
CCGGGTCGGT |
GGGGCGGTCG |
GCTGCCCGCG |
CGGCCTCTCA |
GTTGGGAAAG |
|
161 |
CTGAGGTTGT |
CGCCGGGGCC |
GCGGGTGGAG |
GTCGGGGATG |
AGGCAGCAGG |
TAGGACAGTG |
ACCTCGGTGA |
CGCGAAGGAC |
|
241 |
CCCGGCCACC |
TCTAGGTTCT |
CCTCGTCCGC |
CCGTTGTTCA |
GCGAGGGAGG |
CTCTGCGCGT |
GCCGCAGCTG |
ACGGGGAAAC |
|
321 |
TGAGGCACGG |
AGCGGGCCTG |
TAGGAGCTGT |
CCAGGCCATC |
TCCAACCATG |
GGAGTGAGGC |
ACCCGCCCTG |
CTCCCACCGG |
|
401 |
CTCCTGGCCG |
TCTGCGCCCT |
CGTGTCCTTG |
GCAACCGCTG |
CACTCCTGGG |
GCACATCCTA |
CTCCATGATT |
TCCTGCTGGT |
|
481 |
TCCCCGAGAG |
CTGAGTGGCT |
CCTCCCCAGT |
CCTGGAGGAG |
ACTCACCCAG |
CTCACCAGCA |
GGGAGCCAGC |
AGACCAGGGC |
|
561 |
CCCGGGATGC |
CCAGGCACAC |
CCCGGCCGTC |
CCAGAGCAGT |
GCCCACACAG |
TGCGACGTCC |
CCCCCAACAG |
CCGCTTCGAT |
|
641 |
TGCGCCCCTG |
ACAAGGCCAT |
CACCCAGGAA |
CAGTGCGAGG |
CCCGCGGCTG |
TTGCTACATC |
CCTGCAAAGC |
AGGGGCTGCA |
|
721 |
GGGAGCCCAG |
ATGGGGCAGC |
CCTGGTGCTT |
CTTCCCACCC |
AGCTACCCCA |
GCTACAAGCT |
GGAGAACCTG |
AGCTCCTCTG |
|
801 |
AAATGGGCTA |
CACGGCCACC |
CTGACCCGTA |
CCACCCCCAC |
CTTCTTCCCC |
AAGGACATCC |
TGACCCTGCG |
GCTGGACGTG |
|
881 |
ATGATGGAGA |
CTGAGAACCG |
CCTCCACTTC |
ACGATCAAAG |
ATCCAGCTAA |
CAGGCGCTAC |
GAGGTGCCCT |
TGGAGACCCC |
|
961 |
GCATGTCCAC |
AGCCGGGCAC |
CGTCCCCACT |
CTACAGCGTG |
GAGTTCTCCG |
AGGAGCCCTT |
CGGGGTGATC |
GTGCGCCGGC |
|
1041 |
AGCTGGACGG |
CCGCGTGCTG |
CTGAACACGA |
CGGTGGCGCC |
CCTGTTCTTT |
GCGGACCAGT |
TCCTTCAGCT |
GTCCACCTCG |
|
1121 |
CTGCCCTCGC |
AGTATATCAC |
AGGCCTCGCC |
GAGCACCTCA |
GTCCCCTGAT |
GCTCAGCACC |
AGCTGGACCA |
GGATCACCCT |
|
1201 |
GTGGAACCGG |
GACCTTGCGC |
CCACGCCCGG |
TGCGAACCTC |
TACGGGTCTC |
ACCCTTTCTA |
CCTGGCGCTG |
GAGGACGGCG |
|
1281 |
GGTCGGCACA |
CGGGGTGTTC |
CTGCTAAACA |
GCAATGCCAT |
GGATGTGGTC |
CTGCAGCCGA |
GCCCTGCCCT |
TAGCTGGAGG |
|
1361 |
TCGACAGGTG |
GGATCCTGGA |
TGTCTACATC |
TTCCTGGGCC |
CAGAGCCCAA |
GAGCGTGGTG |
CAGCAGTACC |
TGGACGTTGT |
|
1441 |
GGGATACCCG |
TTCATGCCGC |
CATACTGGGG |
CCTGGGCTTC |
CACCTGTGCC |
GCTGGGGCTA |
CTCCTCCACC |
GCTATCACCC |
|
1521 |
GCCAGGTGGT |
GGAGAACATG |
ACCAGGGCCC |
ACTTCCCCCT |
GGACGTCCAG |
TGGAACGACC |
TGGACTACAT |
GGACTCCCGG |
|
1601 |
AGGGACTTCA |
CGTTCAACAA |
GGATGGCTTC |
CGGGACTTCC |
CGGCCATGGT |
GCAGGAGCTG |
CACCAGGGCG |
GCCGGCGCTA |
|
1681 |
CATGATGATC |
GTGGATCCTG |
CCATCAGCAG |
CTCGGGCCCT |
GCCGGGAGCT |
ACAGGCCCTA |
CGACGAGGGT |
CTGCGGAGGG |
|
1761 |
GGGTTTTCAT |
CACCAACGAG |
ACCGGCCAGC |
CGCTGATTGG |
GAAGGTATGG |
CCCGGGTCCA |
CTGCCTTCCC |
CGACTTCACC |
|
1841 |
AACCCCACAG |
CCCTGGCCTG |
GTGGGAGGAC |
ATGGTGGCTG |
AGTTCCATGA |
CCAGGTGCCC |
TTCGACGGCA |
TGTGGATTGA |
|
1921 |
CATGAACGAG |
CCTTCCAACT |
TCATCAGGGG |
CTCTGAGGAC |
GGCTGCCCCA |
ACAATGAGCT |
GGAGAACCCA |
CCCTACGTGC |
|
2001 |
CTGGGGTGGT |
TGGGGGGACC |
CTCCAGGCGG |
CCACCATCTG |
TGCCTCCAGC |
CACCAGTTTC |
TCTCCACACA |
CTACAACCTG |
|
2081 |
CACAACCTCT |
ACGGCCTGAC |
CGAAGCCATC |
GCCTCCCACA |
GGGCGCTGGT |
GAAGGCTCGG |
GGGACACGCC |
CATTTGTGAT |
|
2161 |
CTCCCGCTCG |
ACCTTTGCTG |
GCCACGGCCG |
ATACGCCGGC |
CACTGGACGG |
GGGACGTGTG |
GAGCTCCTGG |
GAGCAGCTCG |
|
2241 |
CCTCCTCCGT |
GCCAGAAATC |
CTGCAGTTTA |
ACCTGCTGGG |
GGTGCCTCTG |
GTCGGGGCCG |
ACGTCTGCGG |
CTTCCTGGGC |
|
2321 |
AACACCTCAG |
AGGAGCTGTG |
TGTGCGCTGG |
ACCCAGCTGG |
GGGCCTTCTA |
CCCCTTCATG |
CGGAACCACA |
ACAGCCTGCT |
|
2401 |
CAGTCTGCCC |
CAGGAGCCGT |
ACAGCTTCAG |
CGAGCCGGCC |
CAGCAGGCCA |
TGAGGAAGGC |
CCTCACCCTG |
CGCTACGCAC |
|
2481 |
TCCTCCCCCA |
CCTCTACACA |
CTGTTCCACC |
AGGCCCACGT |
CGCGGGGGAG |
ACCGTGGCCC |
GGCCCCTCTT |
CCTGGAGTTC |
|
2561 |
CCCAAGGACT |
CTAGCACCTG |
GACTGTGGAC |
CACCAGCTCC |
TGTGGGGGGA |
GGCCCTGCTC |
ATCACCCCAG |
TGCTCCAGGC |
|
2641 |
CGGGAAGGCC |
GAAGTGACTG |
GCTACTTCCC |
CTTGGGCACA |
TGGTACGACC |
TGCAGACGGT |
GCCAGTAGAG |
GCCCTTGGCA |
|
2721 |
GCCTCCCACC |
CCCACCTGCA |
GCTCCCCGTG |
AGCCAGCCAT |
CCACAGCGAG |
GGGCAGTGGG |
TGACGCTGCC |
GGCCCCCCTG |
|
2801 |
GACACCATCA |
ACGTCCACCT |
CCGGGCTGGG |
TACATCATCC |
CCCTGCAGGG |
CCCTGGCCTC |
ACAACCACAG |
AGTCCCGCCA |
|
2881 |
GCAGCCCATG |
GCCCTGGCTG |
TGGCCCTGAC |
CAAGGGTGGG |
GAGGCCCGAG |
GGGAGCTGTT |
CTGGGACGAT |
GGAGAGAGCC |
|
2961 |
TGGAAGTGCT |
GGAGCGAGGG |
GCCTACACAC |
AGGTCATCTT |
CCTGGCCAGG |
AATAACACGA |
TCGTGAATGA |
GCTGGTACGT |
|
3041 |
GTGACCAGTG |
AGGGAGCTGG |
CCTGCAGCTG |
CAGAAGGTGA |
CTGTCCTGGG |
CGTGGCCACG |
GCGCCCCAGC |
AGGTCCTCTC |
|
3121 |
CAACGGTGTC |
CCTGTCTCCA |
ACTTCACCTA |
CAGCCCCGAC |
ACCAAGGTCC |
TGGACATCTG |
TGTCTCGCTG |
TTGATGGGAG |
|
3201 |
AGCAGTTTCT |
CGTCAGCTGG |
TGTTAGCCGG |
GCGGAGTGTG |
TTAGTCTCTC |
CAGAGGGAGG |
CTGGTTCCCC |
AGGGAAGCAG |
|
3281 |
AGCCTGTGTG |
CGGGCAGCAG |
CTGTGTGCGG |
GCCTGGGGGT |
TGCATGTGTC |
ACCTGGAGCT |
GGGCACTAAC |
CATTCCAAGC |
|
3361 |
CGCCGCATCG |
CTTGTTTCCA |
CCTCCTGGGC |
CGGGGCTCTG |
GCCCCCAACG |
TGTCTAGGAG |
AGCTTTCTCC |
CTAGATCGCA |
|
3441 |
CTGTGGGCCG |
GGGCCCTGGA |
GGGCTGCTCT |
GTGTTAATAA |
GATTGTAAGG |
TTTGCCCTCC |
TCACCTGTTG |
CCGGCATGCG |
|
3521 |
GGTAGTATTA |
GCCACCCCCC |
TCCATCTGTT |
CCCAGCACCG |
GAGAAGGGGG |
TGCTCAGGTG |
GAGGTGTGGG |
GTATGCACCT |
|
3601 |
GAGCTCCTGC |
TTCGCGCCTG |
CTGCTCTGCC |
CCAACGCGAC |
CGCTGCCCGG |
CTGCCCAGAG |
GGCTGGATGC |
CTGCCGGTCC |
|
3681 |
CCGAGCAAGC |
CTGGGAACTC |
AGGAAAATTC |
ACAGGACTTG |
GGAGATTCTA |
AATCTTAAGT |
GCAATTATTT |
TTAATAAAAG |
|
3761 |
GGGCATTTGG |
AATCAAAAAA |
AA |
|
|
|
|
|
|
|
|
|
|
|
|
>gi|119393890|ref|NM_000152.3|Glucosidase, alpha; acid (GAA), transcript variant 1
ACCCGCCTCTGCGCGCCCCCGGGCACGACCCCGGAGTCTCCGCGGGCGGCCAGGGCGCGCGTGCGCGGAGGTGAGCCGGG
CCGGGGCTGCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGTGGGGCGGTCGGCTGCCCGCGCGGCCTCTCAGTTGGGAAAG
CTGAGGTTGTCGCCGGGGCCGCGGGTGGAGGTCGGGGATGAGGCAGCAGGTAGGACAGTGACCTCGGTGACGCGAAGGAC
CCCGGCCACCTCTAGGTTCTCCTCGTCCGCCCGTTGTTCAGCGAGGGAGGCTCTGCGCGTGCCGCAGCTGACGGGGAAAC
TGAGGCACGGAGCGGGCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGG
CTCCTGGCCGTCTGCGCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGT
TCCCCGAGAGCTGAGTGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGC
CCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGAT
TGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCA
GGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTG
AAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTG
ATGATGGAGACTGAGAACCGCCTCCACTTCACGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCC
GCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGC
AGCTGGACGGCCGCGTGCTGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCG
CTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCT
GTGGAACCGGGACCTTGCGCCCACGCCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCG
GGTCGGCACACGGGGTGTTCCTGCTAAACAGCAATGCCATGGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGG
TCGACAGGTGGGATCCTGGATGTCTACATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGT
GGGATACCCGTTCATGCCGCCATACTGGGGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCC
GCCAGGTGGTGGAGAACATGACCAGGGCCCACTTCCCCCTGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGG
AGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTA
CATGATGATCGTGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGG
GGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACC
AACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGA
CATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGC
CTGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTG
CACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGAT
CTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCG
CCTCCTCCGTGCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGC
AACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCT
CAGTCTGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCAC
TCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTTC
CCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGC
CGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGCCAGTAGAGGCCCTTGGCA
GCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTG
GACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCA
GCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCC
TGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATAACACGATCGTGAATGAGCTGGTACGT
GTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTC
CAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAG
AGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAG
AGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGC
CGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCA
CTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCG
GGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCT
GAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCC
CCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAG
GGGCATTTGGAATCAAAAAAAA
|
|
|
| |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Primary source |
RefSeq : NM_001079803.1 (GI:119393892)
|
Name |
Glucosidase, alpha; acid (GAA), transcript variant 2
|
Type of transcript |
mRNA
|
Organism |
Homo sapiens
|
Length |
3597 nt
|
Map |
17q25.2-q25.3
|
Location |
Chromosome 17 (NC_000017.10) strand : +
78075354...78075423 | 78075609...78075688 | 78078353...78078930 | 78079547...78079692 |
78081355...78081520 | 78081598...78081694 | 78082088...78082207 | 78082287...78082405 |
78082495...78082626 | 78083743...78083853 | 78084525...78084638 | 78084739...78084823 |
78085781...78085898 | 78086376...78086509 | 78086674...78086825 | 78087016...78087164 |
78090766...78090907 | 78091398...78091547 | 78091991...78092155 | 78092451...78092603 |
78093070...78093678 |
|
|
|
|
|
|
|
|
|
|
|
|
|
Exon(s) |
Start |
End |
Length |
is coding |
Exon 1a
|
1
|
70
|
70
|
1
|
Exon 1c
|
71
|
150
|
80
|
1
|
Exon 2
|
151
|
728
|
578
|
1
|
Exon 3
|
729
|
874
|
146
|
1
|
Exon 4
|
875
|
1040
|
166
|
1
|
Exon 5
|
1041
|
1137
|
97
|
1
|
Exon 6
|
1138
|
1257
|
120
|
1
|
Exon 7
|
1258
|
1376
|
119
|
1
|
Exon 8
|
1377
|
1508
|
132
|
1
|
Exon 9
|
1509
|
1619
|
111
|
1
|
Exon 10
|
1620
|
1733
|
114
|
1
|
Exon 11
|
1734
|
1818
|
85
|
1
|
Exon 12
|
1819
|
1936
|
118
|
1
|
Exon 13
|
1937
|
2070
|
134
|
1
|
Exon 14
|
2071
|
2222
|
152
|
1
|
Exon 15
|
2223
|
2371
|
149
|
1
|
Exon 16
|
2372
|
2513
|
142
|
1
|
Exon 17
|
2514
|
2663
|
150
|
1
|
Exon 18
|
2664
|
2828
|
165
|
1
|
Exon 19
|
2829
|
2981
|
153
|
1
|
Exon 20
|
2982
|
3590
|
609
|
1
|
|
|
|
|
|
|
|
|
|
|
|
|
ID |
Class |
Location |
Mutation |
Length |
is synonymous |
Source |
|
|
|
|
|
|
|
|
|
|
|
|
Primary source |
NCBI : CCDS32760
|
Nucleotide |
GAA, mRNA isoform 2[NM_001079803.1] : 183...3041
|
Length |
2859
|
Location |
Chromosome 17 (NC_000017.10) strand : +
78078385...78078930 | 78079547...78079692 | 78081355...78081520 | 78081598...78081694 |
78082088...78082207 | 78082287...78082405 | 78082495...78082626 | 78083743...78083853 |
78084525...78084638 | 78084739...78084823 | 78085781...78085898 | 78086376...78086509 |
78086674...78086825 | 78087016...78087164 | 78090766...78090907 | 78091398...78091547 |
78091991...78092155 | 78092451...78092603 | 78093070...78093129 |
|
Start codon |
1
|
Translation |
NP_001073271.1 |
|
|
|
|
|
|
|
|
|
|
|
|
1 |
ACCCGCCTCT |
GCGCGCCCCC |
GGGCACGACC |
CCGGAGTCTC |
CGCGGGCGGC |
CAGGGCGCGC |
GTGCGCGGAG |
GTTCTCCTCG |
|
81 |
TCCGCCCGTT |
GTTCAGCGAG |
GGAGGCTCTG |
CGCGTGCCGC |
AGCTGACGGG |
GAAACTGAGG |
CACGGAGCGG |
GCCTGTAGGA |
|
161 |
GCTGTCCAGG |
CCATCTCCAA |
CCATGGGAGT |
GAGGCACCCG |
CCCTGCTCCC |
ACCGGCTCCT |
GGCCGTCTGC |
GCCCTCGTGT |
|
241 |
CCTTGGCAAC |
CGCTGCACTC |
CTGGGGCACA |
TCCTACTCCA |
TGATTTCCTG |
CTGGTTCCCC |
GAGAGCTGAG |
TGGCTCCTCC |
|
321 |
CCAGTCCTGG |
AGGAGACTCA |
CCCAGCTCAC |
CAGCAGGGAG |
CCAGCAGACC |
AGGGCCCCGG |
GATGCCCAGG |
CACACCCCGG |
|
401 |
CCGTCCCAGA |
GCAGTGCCCA |
CACAGTGCGA |
CGTCCCCCCC |
AACAGCCGCT |
TCGATTGCGC |
CCCTGACAAG |
GCCATCACCC |
|
481 |
AGGAACAGTG |
CGAGGCCCGC |
GGCTGTTGCT |
ACATCCCTGC |
AAAGCAGGGG |
CTGCAGGGAG |
CCCAGATGGG |
GCAGCCCTGG |
|
561 |
TGCTTCTTCC |
CACCCAGCTA |
CCCCAGCTAC |
AAGCTGGAGA |
ACCTGAGCTC |
CTCTGAAATG |
GGCTACACGG |
CCACCCTGAC |
|
641 |
CCGTACCACC |
CCCACCTTCT |
TCCCCAAGGA |
CATCCTGACC |
CTGCGGCTGG |
ACGTGATGAT |
GGAGACTGAG |
AACCGCCTCC |
|
721 |
ACTTCACGAT |
CAAAGATCCA |
GCTAACAGGC |
GCTACGAGGT |
GCCCTTGGAG |
ACCCCGCATG |
TCCACAGCCG |
GGCACCGTCC |
|
801 |
CCACTCTACA |
GCGTGGAGTT |
CTCCGAGGAG |
CCCTTCGGGG |
TGATCGTGCG |
CCGGCAGCTG |
GACGGCCGCG |
TGCTGCTGAA |
|
881 |
CACGACGGTG |
GCGCCCCTGT |
TCTTTGCGGA |
CCAGTTCCTT |
CAGCTGTCCA |
CCTCGCTGCC |
CTCGCAGTAT |
ATCACAGGCC |
|
961 |
TCGCCGAGCA |
CCTCAGTCCC |
CTGATGCTCA |
GCACCAGCTG |
GACCAGGATC |
ACCCTGTGGA |
ACCGGGACCT |
TGCGCCCACG |
|
1041 |
CCCGGTGCGA |
ACCTCTACGG |
GTCTCACCCT |
TTCTACCTGG |
CGCTGGAGGA |
CGGCGGGTCG |
GCACACGGGG |
TGTTCCTGCT |
|
1121 |
AAACAGCAAT |
GCCATGGATG |
TGGTCCTGCA |
GCCGAGCCCT |
GCCCTTAGCT |
GGAGGTCGAC |
AGGTGGGATC |
CTGGATGTCT |
|
1201 |
ACATCTTCCT |
GGGCCCAGAG |
CCCAAGAGCG |
TGGTGCAGCA |
GTACCTGGAC |
GTTGTGGGAT |
ACCCGTTCAT |
GCCGCCATAC |
|
1281 |
TGGGGCCTGG |
GCTTCCACCT |
GTGCCGCTGG |
GGCTACTCCT |
CCACCGCTAT |
CACCCGCCAG |
GTGGTGGAGA |
ACATGACCAG |
|
1361 |
GGCCCACTTC |
CCCCTGGACG |
TCCAGTGGAA |
CGACCTGGAC |
TACATGGACT |
CCCGGAGGGA |
CTTCACGTTC |
AACAAGGATG |
|
1441 |
GCTTCCGGGA |
CTTCCCGGCC |
ATGGTGCAGG |
AGCTGCACCA |
GGGCGGCCGG |
CGCTACATGA |
TGATCGTGGA |
TCCTGCCATC |
|
1521 |
AGCAGCTCGG |
GCCCTGCCGG |
GAGCTACAGG |
CCCTACGACG |
AGGGTCTGCG |
GAGGGGGGTT |
TTCATCACCA |
ACGAGACCGG |
|
1601 |
CCAGCCGCTG |
ATTGGGAAGG |
TATGGCCCGG |
GTCCACTGCC |
TTCCCCGACT |
TCACCAACCC |
CACAGCCCTG |
GCCTGGTGGG |
|
1681 |
AGGACATGGT |
GGCTGAGTTC |
CATGACCAGG |
TGCCCTTCGA |
CGGCATGTGG |
ATTGACATGA |
ACGAGCCTTC |
CAACTTCATC |
|
1761 |
AGGGGCTCTG |
AGGACGGCTG |
CCCCAACAAT |
GAGCTGGAGA |
ACCCACCCTA |
CGTGCCTGGG |
GTGGTTGGGG |
GGACCCTCCA |
|
1841 |
GGCGGCCACC |
ATCTGTGCCT |
CCAGCCACCA |
GTTTCTCTCC |
ACACACTACA |
ACCTGCACAA |
CCTCTACGGC |
CTGACCGAAG |
|
1921 |
CCATCGCCTC |
CCACAGGGCG |
CTGGTGAAGG |
CTCGGGGGAC |
ACGCCCATTT |
GTGATCTCCC |
GCTCGACCTT |
TGCTGGCCAC |
|
2001 |
GGCCGATACG |
CCGGCCACTG |
GACGGGGGAC |
GTGTGGAGCT |
CCTGGGAGCA |
GCTCGCCTCC |
TCCGTGCCAG |
AAATCCTGCA |
|
2081 |
GTTTAACCTG |
CTGGGGGTGC |
CTCTGGTCGG |
GGCCGACGTC |
TGCGGCTTCC |
TGGGCAACAC |
CTCAGAGGAG |
CTGTGTGTGC |
|
2161 |
GCTGGACCCA |
GCTGGGGGCC |
TTCTACCCCT |
TCATGCGGAA |
CCACAACAGC |
CTGCTCAGTC |
TGCCCCAGGA |
GCCGTACAGC |
|
2241 |
TTCAGCGAGC |
CGGCCCAGCA |
GGCCATGAGG |
AAGGCCCTCA |
CCCTGCGCTA |
CGCACTCCTC |
CCCCACCTCT |
ACACACTGTT |
|
2321 |
CCACCAGGCC |
CACGTCGCGG |
GGGAGACCGT |
GGCCCGGCCC |
CTCTTCCTGG |
AGTTCCCCAA |
GGACTCTAGC |
ACCTGGACTG |
|
2401 |
TGGACCACCA |
GCTCCTGTGG |
GGGGAGGCCC |
TGCTCATCAC |
CCCAGTGCTC |
CAGGCCGGGA |
AGGCCGAAGT |
GACTGGCTAC |
|
2481 |
TTCCCCTTGG |
GCACATGGTA |
CGACCTGCAG |
ACGGTGCCAG |
TAGAGGCCCT |
TGGCAGCCTC |
CCACCCCCAC |
CTGCAGCTCC |
|
2561 |
CCGTGAGCCA |
GCCATCCACA |
GCGAGGGGCA |
GTGGGTGACG |
CTGCCGGCCC |
CCCTGGACAC |
CATCAACGTC |
CACCTCCGGG |
|
2641 |
CTGGGTACAT |
CATCCCCCTG |
CAGGGCCCTG |
GCCTCACAAC |
CACAGAGTCC |
CGCCAGCAGC |
CCATGGCCCT |
GGCTGTGGCC |
|
2721 |
CTGACCAAGG |
GTGGGGAGGC |
CCGAGGGGAG |
CTGTTCTGGG |
ACGATGGAGA |
GAGCCTGGAA |
GTGCTGGAGC |
GAGGGGCCTA |
|
2801 |
CACACAGGTC |
ATCTTCCTGG |
CCAGGAATAA |
CACGATCGTG |
AATGAGCTGG |
TACGTGTGAC |
CAGTGAGGGA |
GCTGGCCTGC |
|
2881 |
AGCTGCAGAA |
GGTGACTGTC |
CTGGGCGTGG |
CCACGGCGCC |
CCAGCAGGTC |
CTCTCCAACG |
GTGTCCCTGT |
CTCCAACTTC |
|
2961 |
ACCTACAGCC |
CCGACACCAA |
GGTCCTGGAC |
ATCTGTGTCT |
CGCTGTTGAT |
GGGAGAGCAG |
TTTCTCGTCA |
GCTGGTGTTA |
|
3041 |
GCCGGGCGGA |
GTGTGTTAGT |
CTCTCCAGAG |
GGAGGCTGGT |
TCCCCAGGGA |
AGCAGAGCCT |
GTGTGCGGGC |
AGCAGCTGTG |
|
3121 |
TGCGGGCCTG |
GGGGTTGCAT |
GTGTCACCTG |
GAGCTGGGCA |
CTAACCATTC |
CAAGCCGCCG |
CATCGCTTGT |
TTCCACCTCC |
|
3201 |
TGGGCCGGGG |
CTCTGGCCCC |
CAACGTGTCT |
AGGAGAGCTT |
TCTCCCTAGA |
TCGCACTGTG |
GGCCGGGGCC |
CTGGAGGGCT |
|
3281 |
GCTCTGTGTT |
AATAAGATTG |
TAAGGTTTGC |
CCTCCTCACC |
TGTTGCCGGC |
ATGCGGGTAG |
TATTAGCCAC |
CCCCCTCCAT |
|
3361 |
CTGTTCCCAG |
CACCGGAGAA |
GGGGGTGCTC |
AGGTGGAGGT |
GTGGGGTATG |
CACCTGAGCT |
CCTGCTTCGC |
GCCTGCTGCT |
|
3441 |
CTGCCCCAAC |
GCGACCGCTG |
CCCGGCTGCC |
CAGAGGGCTG |
GATGCCTGCC |
GGTCCCCGAG |
CAAGCCTGGG |
AACTCAGGAA |
|
3521 |
AATTCACAGG |
ACTTGGGAGA |
TTCTAAATCT |
TAAGTGCAAT |
TATTTTTAAT |
AAAAGGGGCA |
TTTGGAATCA |
AAAAAAA |
|
|
|
|
|
|
|
|
|
|
|
|
>gi|119393892|ref|NM_001079803.1|Glucosidase, alpha; acid (GAA), transcript variant 2
ACCCGCCTCTGCGCGCCCCCGGGCACGACCCCGGAGTCTCCGCGGGCGGCCAGGGCGCGCGTGCGCGGAGGTTCTCCTCG
TCCGCCCGTTGTTCAGCGAGGGAGGCTCTGCGCGTGCCGCAGCTGACGGGGAAACTGAGGCACGGAGCGGGCCTGTAGGA
GCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGT
CCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCC
CCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGG
CCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCC
AGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGG
TGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGAC
CCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCC
ACTTCACGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCC
CCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGCTGAA
CACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCC
TCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACG
CCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCT
AAACAGCAATGCCATGGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCT
ACATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGATACCCGTTCATGCCGCCATAC
TGGGGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAG
GGCCCACTTCCCCCTGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATG
GCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGATCCTGCCATC
AGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGG
CCAGCCGCTGATTGGGAAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGG
AGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGACATGAACGAGCCTTCCAACTTCATC
AGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGGGTGGTTGGGGGGACCCTCCA
GGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAG
CCATCGCCTCCCACAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCAC
GGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGAAATCCTGCA
GTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGC
GCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGCCCCAGGAGCCGTACAGC
TTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTT
CCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTTCCCCAAGGACTCTAGCACCTGGACTG
TGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTAC
TTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCC
CCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGG
CTGGGTACATCATCCCCCTGCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCC
CTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTA
CACACAGGTCATCTTCCTGGCCAGGAATAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGC
AGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTC
ACCTACAGCCCCGACACCAAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTA
GCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTG
TGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCC
TGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCT
GCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCAT
CTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCT
CTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAA
AATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAAAAAAAA
|
|
|
| |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Primary source |
RefSeq : NM_001079804.1 (GI:119393894)
|
Name |
Glucosidase, alpha; acid (GAA), transcript variant 3
|
Type of transcript |
mRNA
|
Organism |
Homo sapiens
|
Length |
3517 nt
|
Map |
17q25.2-q25.3
|
Location |
Chromosome 17 (NC_000017.10) strand : +
78075354...78075423 | 78078353...78078930 | 78079547...78079692 | 78081355...78081520 |
78081598...78081694 | 78082088...78082207 | 78082287...78082405 | 78082495...78082626 |
78083743...78083853 | 78084525...78084638 | 78084739...78084823 | 78085781...78085898 |
78086376...78086509 | 78086674...78086825 | 78087016...78087164 | 78090766...78090907 |
78091398...78091547 | 78091991...78092155 | 78092451...78092603 | 78093070...78093678 |
|
|
|
|
|
|
|
|
|
|
|
|
|
Exon(s) |
Start |
End |
Length |
is coding |
Exon 1a
|
1
|
70
|
70
|
1
|
Exon 2
|
71
|
648
|
578
|
1
|
Exon 3
|
649
|
794
|
146
|
1
|
Exon 4
|
795
|
960
|
166
|
1
|
Exon 5
|
961
|
1057
|
97
|
1
|
Exon 6
|
1058
|
1177
|
120
|
1
|
Exon 7
|
1178
|
1296
|
119
|
1
|
Exon 8
|
1297
|
1428
|
132
|
1
|
Exon 9
|
1429
|
1539
|
111
|
1
|
Exon 10
|
1540
|
1653
|
114
|
1
|
Exon 11
|
1654
|
1738
|
85
|
1
|
Exon 12
|
1739
|
1856
|
118
|
1
|
Exon 13
|
1857
|
1990
|
134
|
1
|
Exon 14
|
1991
|
2142
|
152
|
1
|
Exon 15
|
2143
|
2291
|
149
|
1
|
Exon 16
|
2292
|
2433
|
142
|
1
|
Exon 17
|
2434
|
2583
|
150
|
1
|
Exon 18
|
2584
|
2748
|
165
|
1
|
Exon 19
|
2749
|
2901
|
153
|
1
|
Exon 20
|
2902
|
3510
|
609
|
1
|
|
|
|
|
|
|
|
|
|
|
|
|
ID |
Class |
Location |
Mutation |
Length |
is synonymous |
Source |
|
|
|
|
|
|
|
|
|
|
|
|
Primary source |
NCBI : CCDS32760
|
Nucleotide |
GAA, mRNA isoform 3[NM_001079804.1] : 103...2961
|
Length |
2859
|
Location |
Chromosome 17 (NC_000017.10) strand : +
78078385...78078930 | 78079547...78079692 | 78081355...78081520 | 78081598...78081694 |
78082088...78082207 | 78082287...78082405 | 78082495...78082626 | 78083743...78083853 |
78084525...78084638 | 78084739...78084823 | 78085781...78085898 | 78086376...78086509 |
78086674...78086825 | 78087016...78087164 | 78090766...78090907 | 78091398...78091547 |
78091991...78092155 | 78092451...78092603 | 78093070...78093129 |
|
Start codon |
1
|
Translation |
NP_001073272.1 |
|
|
|
|
|
|
|
|
|
|
|
|
1 |
ACCCGCCTCT |
GCGCGCCCCC |
GGGCACGACC |
CCGGAGTCTC |
CGCGGGCGGC |
CAGGGCGCGC |
GTGCGCGGAG |
GCCTGTAGGA |
|
81 |
GCTGTCCAGG |
CCATCTCCAA |
CCATGGGAGT |
GAGGCACCCG |
CCCTGCTCCC |
ACCGGCTCCT |
GGCCGTCTGC |
GCCCTCGTGT |
|
161 |
CCTTGGCAAC |
CGCTGCACTC |
CTGGGGCACA |
TCCTACTCCA |
TGATTTCCTG |
CTGGTTCCCC |
GAGAGCTGAG |
TGGCTCCTCC |
|
241 |
CCAGTCCTGG |
AGGAGACTCA |
CCCAGCTCAC |
CAGCAGGGAG |
CCAGCAGACC |
AGGGCCCCGG |
GATGCCCAGG |
CACACCCCGG |
|
321 |
CCGTCCCAGA |
GCAGTGCCCA |
CACAGTGCGA |
CGTCCCCCCC |
AACAGCCGCT |
TCGATTGCGC |
CCCTGACAAG |
GCCATCACCC |
|
401 |
AGGAACAGTG |
CGAGGCCCGC |
GGCTGTTGCT |
ACATCCCTGC |
AAAGCAGGGG |
CTGCAGGGAG |
CCCAGATGGG |
GCAGCCCTGG |
|
481 |
TGCTTCTTCC |
CACCCAGCTA |
CCCCAGCTAC |
AAGCTGGAGA |
ACCTGAGCTC |
CTCTGAAATG |
GGCTACACGG |
CCACCCTGAC |
|
561 |
CCGTACCACC |
CCCACCTTCT |
TCCCCAAGGA |
CATCCTGACC |
CTGCGGCTGG |
ACGTGATGAT |
GGAGACTGAG |
AACCGCCTCC |
|
641 |
ACTTCACGAT |
CAAAGATCCA |
GCTAACAGGC |
GCTACGAGGT |
GCCCTTGGAG |
ACCCCGCATG |
TCCACAGCCG |
GGCACCGTCC |
|
721 |
CCACTCTACA |
GCGTGGAGTT |
CTCCGAGGAG |
CCCTTCGGGG |
TGATCGTGCG |
CCGGCAGCTG |
GACGGCCGCG |
TGCTGCTGAA |
|
801 |
CACGACGGTG |
GCGCCCCTGT |
TCTTTGCGGA |
CCAGTTCCTT |
CAGCTGTCCA |
CCTCGCTGCC |
CTCGCAGTAT |
ATCACAGGCC |
|
881 |
TCGCCGAGCA |
CCTCAGTCCC |
CTGATGCTCA |
GCACCAGCTG |
GACCAGGATC |
ACCCTGTGGA |
ACCGGGACCT |
TGCGCCCACG |
|
961 |
CCCGGTGCGA |
ACCTCTACGG |
GTCTCACCCT |
TTCTACCTGG |
CGCTGGAGGA |
CGGCGGGTCG |
GCACACGGGG |
TGTTCCTGCT |
|
1041 |
AAACAGCAAT |
GCCATGGATG |
TGGTCCTGCA |
GCCGAGCCCT |
GCCCTTAGCT |
GGAGGTCGAC |
AGGTGGGATC |
CTGGATGTCT |
|
1121 |
ACATCTTCCT |
GGGCCCAGAG |
CCCAAGAGCG |
TGGTGCAGCA |
GTACCTGGAC |
GTTGTGGGAT |
ACCCGTTCAT |
GCCGCCATAC |
|
1201 |
TGGGGCCTGG |
GCTTCCACCT |
GTGCCGCTGG |
GGCTACTCCT |
CCACCGCTAT |
CACCCGCCAG |
GTGGTGGAGA |
ACATGACCAG |
|
1281 |
GGCCCACTTC |
CCCCTGGACG |
TCCAGTGGAA |
CGACCTGGAC |
TACATGGACT |
CCCGGAGGGA |
CTTCACGTTC |
AACAAGGATG |
|
1361 |
GCTTCCGGGA |
CTTCCCGGCC |
ATGGTGCAGG |
AGCTGCACCA |
GGGCGGCCGG |
CGCTACATGA |
TGATCGTGGA |
TCCTGCCATC |
|
1441 |
AGCAGCTCGG |
GCCCTGCCGG |
GAGCTACAGG |
CCCTACGACG |
AGGGTCTGCG |
GAGGGGGGTT |
TTCATCACCA |
ACGAGACCGG |
|
1521 |
CCAGCCGCTG |
ATTGGGAAGG |
TATGGCCCGG |
GTCCACTGCC |
TTCCCCGACT |
TCACCAACCC |
CACAGCCCTG |
GCCTGGTGGG |
|
1601 |
AGGACATGGT |
GGCTGAGTTC |
CATGACCAGG |
TGCCCTTCGA |
CGGCATGTGG |
ATTGACATGA |
ACGAGCCTTC |
CAACTTCATC |
|
1681 |
AGGGGCTCTG |
AGGACGGCTG |
CCCCAACAAT |
GAGCTGGAGA |
ACCCACCCTA |
CGTGCCTGGG |
GTGGTTGGGG |
GGACCCTCCA |
|
1761 |
GGCGGCCACC |
ATCTGTGCCT |
CCAGCCACCA |
GTTTCTCTCC |
ACACACTACA |
ACCTGCACAA |
CCTCTACGGC |
CTGACCGAAG |
|
1841 |
CCATCGCCTC |
CCACAGGGCG |
CTGGTGAAGG |
CTCGGGGGAC |
ACGCCCATTT |
GTGATCTCCC |
GCTCGACCTT |
TGCTGGCCAC |
|
1921 |
GGCCGATACG |
CCGGCCACTG |
GACGGGGGAC |
GTGTGGAGCT |
CCTGGGAGCA |
GCTCGCCTCC |
TCCGTGCCAG |
AAATCCTGCA |
|
2001 |
GTTTAACCTG |
CTGGGGGTGC |
CTCTGGTCGG |
GGCCGACGTC |
TGCGGCTTCC |
TGGGCAACAC |
CTCAGAGGAG |
CTGTGTGTGC |
|
2081 |
GCTGGACCCA |
GCTGGGGGCC |
TTCTACCCCT |
TCATGCGGAA |
CCACAACAGC |
CTGCTCAGTC |
TGCCCCAGGA |
GCCGTACAGC |
|
2161 |
TTCAGCGAGC |
CGGCCCAGCA |
GGCCATGAGG |
AAGGCCCTCA |
CCCTGCGCTA |
CGCACTCCTC |
CCCCACCTCT |
ACACACTGTT |
|
2241 |
CCACCAGGCC |
CACGTCGCGG |
GGGAGACCGT |
GGCCCGGCCC |
CTCTTCCTGG |
AGTTCCCCAA |
GGACTCTAGC |
ACCTGGACTG |
|
2321 |
TGGACCACCA |
GCTCCTGTGG |
GGGGAGGCCC |
TGCTCATCAC |
CCCAGTGCTC |
CAGGCCGGGA |
AGGCCGAAGT |
GACTGGCTAC |
|
2401 |
TTCCCCTTGG |
GCACATGGTA |
CGACCTGCAG |
ACGGTGCCAG |
TAGAGGCCCT |
TGGCAGCCTC |
CCACCCCCAC |
CTGCAGCTCC |
|
2481 |
CCGTGAGCCA |
GCCATCCACA |
GCGAGGGGCA |
GTGGGTGACG |
CTGCCGGCCC |
CCCTGGACAC |
CATCAACGTC |
CACCTCCGGG |
|
2561 |
CTGGGTACAT |
CATCCCCCTG |
CAGGGCCCTG |
GCCTCACAAC |
CACAGAGTCC |
CGCCAGCAGC |
CCATGGCCCT |
GGCTGTGGCC |
|
2641 |
CTGACCAAGG |
GTGGGGAGGC |
CCGAGGGGAG |
CTGTTCTGGG |
ACGATGGAGA |
GAGCCTGGAA |
GTGCTGGAGC |
GAGGGGCCTA |
|
2721 |
CACACAGGTC |
ATCTTCCTGG |
CCAGGAATAA |
CACGATCGTG |
AATGAGCTGG |
TACGTGTGAC |
CAGTGAGGGA |
GCTGGCCTGC |
|
2801 |
AGCTGCAGAA |
GGTGACTGTC |
CTGGGCGTGG |
CCACGGCGCC |
CCAGCAGGTC |
CTCTCCAACG |
GTGTCCCTGT |
CTCCAACTTC |
|
2881 |
ACCTACAGCC |
CCGACACCAA |
GGTCCTGGAC |
ATCTGTGTCT |
CGCTGTTGAT |
GGGAGAGCAG |
TTTCTCGTCA |
GCTGGTGTTA |
|
2961 |
GCCGGGCGGA |
GTGTGTTAGT |
CTCTCCAGAG |
GGAGGCTGGT |
TCCCCAGGGA |
AGCAGAGCCT |
GTGTGCGGGC |
AGCAGCTGTG |
|
3041 |
TGCGGGCCTG |
GGGGTTGCAT |
GTGTCACCTG |
GAGCTGGGCA |
CTAACCATTC |
CAAGCCGCCG |
CATCGCTTGT |
TTCCACCTCC |
|
3121 |
TGGGCCGGGG |
CTCTGGCCCC |
CAACGTGTCT |
AGGAGAGCTT |
TCTCCCTAGA |
TCGCACTGTG |
GGCCGGGGCC |
CTGGAGGGCT |
|
3201 |
GCTCTGTGTT |
AATAAGATTG |
TAAGGTTTGC |
CCTCCTCACC |
TGTTGCCGGC |
ATGCGGGTAG |
TATTAGCCAC |
CCCCCTCCAT |
|
3281 |
CTGTTCCCAG |
CACCGGAGAA |
GGGGGTGCTC |
AGGTGGAGGT |
GTGGGGTATG |
CACCTGAGCT |
CCTGCTTCGC |
GCCTGCTGCT |
|
3361 |
CTGCCCCAAC |
GCGACCGCTG |
CCCGGCTGCC |
CAGAGGGCTG |
GATGCCTGCC |
GGTCCCCGAG |
CAAGCCTGGG |
AACTCAGGAA |
|
3441 |
AATTCACAGG |
ACTTGGGAGA |
TTCTAAATCT |
TAAGTGCAAT |
TATTTTTAAT |
AAAAGGGGCA |
TTTGGAATCA |
AAAAAAA |
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>gi|119393894|ref|NM_001079804.1|Glucosidase, alpha; acid (GAA), transcript variant 3
ACCCGCCTCTGCGCGCCCCCGGGCACGACCCCGGAGTCTCCGCGGGCGGCCAGGGCGCGCGTGCGCGGAGGCCTGTAGGA
GCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGCGCCCTCGTGT
CCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAGTGGCTCCTCC
CCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGG
CCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCC
AGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGG
TGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGAC
CCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCC
ACTTCACGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCC
CCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGCTGAA
CACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCC
TCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACG
CCCGGTGCGAACCTCTACGGGTCTCACCCTTTCTACCTGGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGCT
AAACAGCAATGCCATGGATGTGGTCCTGCAGCCGAGCCCTGCCCTTAGCTGGAGGTCGACAGGTGGGATCCTGGATGTCT
ACATCTTCCTGGGCCCAGAGCCCAAGAGCGTGGTGCAGCAGTACCTGGACGTTGTGGGATACCCGTTCATGCCGCCATAC
TGGGGCCTGGGCTTCCACCTGTGCCGCTGGGGCTACTCCTCCACCGCTATCACCCGCCAGGTGGTGGAGAACATGACCAG
GGCCCACTTCCCCCTGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATG
GCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGATCCTGCCATC
AGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGG
CCAGCCGCTGATTGGGAAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGG
AGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGACATGAACGAGCCTTCCAACTTCATC
AGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGGGTGGTTGGGGGGACCCTCCA
GGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAG
CCATCGCCTCCCACAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCAC
GGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGAAATCCTGCA
GTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGC
GCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGCCCCAGGAGCCGTACAGC
TTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTT
CCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTTCCCCAAGGACTCTAGCACCTGGACTG
TGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTAC
TTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCC
CCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGG
CTGGGTACATCATCCCCCTGCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCC
CTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTA
CACACAGGTCATCTTCCTGGCCAGGAATAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGC
AGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTC
ACCTACAGCCCCGACACCAAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTA
GCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTG
TGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCC
TGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCT
GCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCAT
CTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCT
CTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAA
AATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAAAAAAAA
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Exon number |
1b
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Length |
335 nt
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Location |
Chromosome 17 (NC_000017.10) : 78075354...78075688 (+)
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Is part of |
GAA, mRNA isoform 1
(NM_000152.3)
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Sequence |
Show
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ACCCGCCTCTGCGCGCCCCCGGGCACGACCCCGGAGTCTCCGCGGGCGGCCAGGGCGCGCGTGCGCGGAGGTGAGCCGGG
CCGGGGCTGCGGGGCTTCCCTGAGCGCGGGCCGGGTCGGTGGGGCGGTCGGCTGCCCGCGCGGCCTCTCAGTTGGGAAAG
CTGAGGTTGTCGCCGGGGCCGCGGGTGGAGGTCGGGGATGAGGCAGCAGGTAGGACAGTGACCTCGGTGACGCGAAGGAC
CCCGGCCACCTCTAGGTTCTCCTCGTCCGCCCGTTGTTCAGCGAGGGAGGCTCTGCGCGTGCCGCAGCTGACGGGGAAAC
TGAGGCACGGAGCGG
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Exon number |
2
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Length |
578 nt
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Location |
Chromosome 17 (NC_000017.10) : 78078353...78078930 (+)
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Is part of |
GAA, mRNA isoform 1
(NM_000152.3)
GAA, mRNA isoform 2
(NM_001079803.1)
GAA, mRNA isoform 3
(NM_001079804.1)
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Sequence |
Show
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GCCTGTAGGAGCTGTCCAGGCCATCTCCAACCATGGGAGTGAGGCACCCGCCCTGCTCCCACCGGCTCCTGGCCGTCTGC
GCCCTCGTGTCCTTGGCAACCGCTGCACTCCTGGGGCACATCCTACTCCATGATTTCCTGCTGGTTCCCCGAGAGCTGAG
TGGCTCCTCCCCAGTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGG
CACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAG
GCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGG
GCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGG
CCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAG
AACCGCCTCCACTTCACG
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Exon number |
20
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Length |
609 nt
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Location |
Chromosome 17 (NC_000017.10) : 78093070...78093678 (+)
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Is part of |
GAA, mRNA isoform 1
(NM_000152.3)
GAA, mRNA isoform 2
(NM_001079803.1)
GAA, mRNA isoform 3
(NM_001079804.1)
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Sequence |
Show
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GTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTC
TCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATG
TGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCC
AACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGT
AAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAG
GGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGC
CCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGAT
TCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCA
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Primary source |
Uniprot : P10253
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Name |
Lysosomal alpha-glucosidase
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Alternative name(s) |
Acid maltase Aglucosidase alfa
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Synonym(s) |
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Organism |
Homo sapiens
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Length |
952 aa
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Protein existence |
---
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General annotation (Comments)
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top
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Catalytic activity
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Hydrolysis of terminal, non-reducing (1->4)- linked alpha-D-glucose residues with release of alpha-D-glucose.
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Disease
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Defects in GAA are the cause of glycogen storage disease type 2 (GSD2) [MIM:232300]; also called acid alpha-glucosidase (GAA) deficiency or acid maltase deficiency (AMD). GSD2 is a metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy.
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Function
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Essential for the degradation of glygogen to glucose in lysosomes.
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Polymorphism
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There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer.
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Ptm
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The different forms of acid glucosidase are obtained by proteolytic processing.
Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6- phosphate receptor.
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Similarity
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Belongs to the glycosyl hydrolase 31 family.
Contains 1 P-type (trefoil) domain.
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Subcellular location
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Lysosome.
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Biological process
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maltose metabolic process [GO:0000023]
diaphragm contraction [GO:0002086]
glycogen catabolic process [GO:0005980]
sucrose metabolic process [GO:0005985]
lysosome organization [GO:0007040]
vacuolar sequestering [GO:0043181]
tongue morphogenesis [GO:0043587]
ventricular cardiac muscle tissue morphogenesis [GO:0055010]
cardiac muscle contraction [GO:0060048]
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Cellular component
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lysosome [GO:0005764]
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Molecular function
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alpha-glucosidase activity [GO:0004558]
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With
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Uniprot accession
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IntAct
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Alternative product(s)
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top
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Feature key |
Position
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Length
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Description
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Feature identifier
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Molecule processing |
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Propeptide
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28 - 69
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42
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PRO_0000018565
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Signal
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1 - 27
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27
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Potential
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P10253-SIGNAL-1
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Region |
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Domain
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80 - 131
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52
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P-type
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P10253-DOMAIN-80
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Sites |
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Active site
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518 - 518
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1
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Nucleophile
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P10253-ACT_SITE-518
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Active site
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521 - 521
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1
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By similarity
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P10253-ACT_SITE-521
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Natural variations |
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Natural variant site
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91 - 91
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1
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D -> N (in allele GAA*2; lower affinity for glycogen and starch but not for lower-molecular weight substrates; dbSNP:rs1800299)
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VAR_004285
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Natural variant site
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103 - 103
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1
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C -> G (in GSD2; infantile form; severe; loss of activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme)
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VAR_018078
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Natural variant site
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191 - 191
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1
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Y -> C (in GSD2; extremely low residual enzymatic activity)
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VAR_046467
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Natural variant site
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199 - 199
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1
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H -> R (in dbSNP:rs1042393)
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VAR_004286
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Natural variant site
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208 - 208
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1
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L -> P (in GSD2)
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VAR_029025
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Natural variant site
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219 - 219
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1
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G -> R (in GSD2; infantile form; severe; loss of activity)
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VAR_018079
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Natural variant site
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223 - 223
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1
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H -> R (in dbSNP:rs1042395)
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VAR_004287
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Natural variant site
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224 - 224
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1
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R -> W (in GSD2; infantile; mild partial loss of activity)
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VAR_029026
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Natural variant site
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237 - 237
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1
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A -> V (in GSD2)
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VAR_029027
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Natural variant site
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262 - 262
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1
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E -> K (in GSD2; infantile; severe)
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VAR_029028
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Natural variant site
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285 - 285
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1
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P -> R (in GSD2; juvenile form; mild; partial loss of activity)
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VAR_018080
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Natural variant site
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292 - 292
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1
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Y -> C (in GSD2; juvenile form; mild; partial loss of activity)
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VAR_018081
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Natural variant site
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293 - 293
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1
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G -> R (in GSD2; infantile form; severe; almost complete loss of activity)
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VAR_018082
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Natural variant site
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299 - 299
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1
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L -> R (in GSD2; infantile form)
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VAR_004288
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Natural variant site
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308 - 308
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1
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H -> P (in GSD2; infantile form; severe; complete loss of activity)
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VAR_018083
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Natural variant site
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308 - 308
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1
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H -> L (in GSD2)
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VAR_046468
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Natural variant site
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309 - 309
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1
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G -> R (in GSD2; severe)
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VAR_018084
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Natural variant site
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312 - 312
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1
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L -> R (in GSD2; infantile form; severe; loss of activity)
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VAR_018085
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Natural variant site
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318 - 318
|
1
|
M -> T (in GSD2; severe)
|
VAR_004289
|
Natural variant site
|
324 - 324
|
1
|
P -> L (in GSD2)
|
VAR_029029
|
Natural variant site
|
330 - 330
|
1
|
W -> G (in GSD2; infantile form; severe)
|
VAR_029030
|
Natural variant site
|
355 - 355
|
1
|
L -> P (in GSD2; infantile form; severe; loss of activity)
|
VAR_018086
|
Natural variant site
|
361 - 361
|
1
|
P -> L (in GSD2; juvenile form; severe)
|
VAR_029031
|
Natural variant site
|
374 - 374
|
1
|
C -> R (in GSD2; infantile form; severe; loss of activity)
|
VAR_018087
|
Natural variant site
|
375 - 375
|
1
|
R -> L (in GSD2; extremely low residual enzymatic activity)
|
VAR_046469
|
Natural variant site
|
377 - 377
|
1
|
G -> R (in GSD2; severe)
|
VAR_029032
|
Natural variant site
|
401 - 401
|
1
|
Q -> R (in GSD2; extremely low residual enzymatic activity)
|
VAR_046470
|
Natural variant site
|
402 - 402
|
1
|
W -> R (in GSD2; severe)
|
VAR_004290
|
Natural variant site
|
404 - 404
|
1
|
D -> N (in GSD2; severe)
|
VAR_029033
|
Natural variant site
|
405 - 405
|
1
|
L -> P (in GSD2; infantile form; severe; loss of activity)
|
VAR_018088
|
Natural variant site
|
408 - 408
|
1
|
M -> V (in GSD2; juvenile form; severe)
|
VAR_029034
|
Natural variant site
|
437 - 437
|
1
|
R -> C (in GSD2; juvenile form; severe)
|
VAR_029035
|
Natural variant site
|
445 - 445
|
1
|
A -> P (in GSD2)
|
VAR_029036
|
Natural variant site
|
455 - 455
|
1
|
Y -> F (in GSD2; juvenile form; almost complete loss of activity)
|
VAR_018089
|
Natural variant site
|
457 - 457
|
1
|
P -> L (in GSD2; juvenile form)
|
VAR_029040
|
Natural variant site
|
459 - 459
|
1
|
Missing (in GSD2; infantile form; severe)
|
VAR_018090
|
Natural variant site
|
478 - 478
|
1
|
G -> R (in GSD2; severe; loss of activity)
|
VAR_004291
|
Natural variant site
|
481 - 481
|
1
|
W -> R (in GSD2; severe; loss of activity)
|
VAR_004292
|
Natural variant site
|
489 - 489
|
1
|
D -> N (in GSD2; severe)
|
VAR_029037
|
Natural variant site
|
519 - 519
|
1
|
M -> V (in GSD2)
|
VAR_004294
|
Natural variant site
|
519 - 519
|
1
|
M -> T (in GSD2; severe; loss of activity)
|
VAR_004293
|
Natural variant site
|
521 - 521
|
1
|
E -> K (in GSD2; severe)
|
VAR_004295
|
Natural variant site
|
522 - 522
|
1
|
P -> A (in GSD2; no residual enzymatic activity)
|
VAR_046471
|
Natural variant site
|
529 - 529
|
1
|
S -> V (in GSD2; mild; requires 2 nucleotide substitutions)
|
VAR_004296
|
Natural variant site
|
545 - 545
|
1
|
P -> L (in GSD2; mild; partial loss of activity)
|
VAR_004297
|
Natural variant site
|
549 - 549
|
1
|
G -> R (in GSD2; juvenile form; mild; partial loss of activity)
|
VAR_018091
|
Natural variant site
|
552 - 552
|
1
|
L -> P (in GSD2; infantile/juvenile form; severe; loss of activity)
|
VAR_018092
|
Natural variant site
|
566 - 566
|
1
|
S -> P (in GSD2; infantile form)
|
VAR_004298
|
Natural variant site
|
575 - 575
|
1
|
Y -> S (in GSD2; juvenile form)
|
VAR_018093
|
Natural variant site
|
576 - 576
|
1
|
G -> A
|
VAR_004299
|
Natural variant site
|
576 - 576
|
1
|
G -> S (retains about half of the activity compared with the wild-type; dbSNP:rs1800307)
|
VAR_004300
|
Natural variant site
|
579 - 579
|
1
|
E -> K (in GSD2; infantile form; severe; loss of activity)
|
VAR_018094
|
Natural variant site
|
585 - 585
|
1
|
R -> M (in GSD2)
|
VAR_046472
|
Natural variant site
|
599 - 599
|
1
|
S -> Y (in GSD2; no residual enzymatic activity)
|
VAR_046473
|
Natural variant site
|
600 - 600
|
1
|
R -> H (in GSD2; infantile form)
|
VAR_008689
|
Natural variant site
|
600 - 600
|
1
|
R -> C (in GSD2; juvenile form; loss of activity)
|
VAR_018095
|
Natural variant site
|
607 - 612
|
6
|
Missing (in GSD2)
|
VAR_046474
|
Natural variant site
|
607 - 607
|
1
|
G -> D (in GSD2; infantile form; severe; loss of activity)
|
VAR_018096
|
Natural variant site
|
612 - 612
|
1
|
H -> Q (in GSD2)
|
VAR_029038
|
Natural variant site
|
615 - 615
|
1
|
G -> R (in GSD2; infantile/adult form)
|
VAR_008690
|
Natural variant site
|
619 - 619
|
1
|
S -> R (in GSD2; loss of function of the mutant enzyme)
|
VAR_046475
|
Natural variant site
|
638 - 638
|
1
|
G -> W (in GSD2)
|
VAR_046476
|
Natural variant site
|
643 - 643
|
1
|
G -> R (in GSD2; infantile form; dbSNP:rs28937909)
|
VAR_004301
|
Natural variant site
|
645 - 645
|
1
|
D -> E (in GSD2; infantile form; most common mutation; deficient in phosphorylation and in proteolytic processing; dbSNP:rs28940868)
|
VAR_004302
|
Natural variant site
|
645 - 645
|
1
|
D -> H (in GSD2; almost complete loss of activity)
|
VAR_004303
|
Natural variant site
|
645 - 645
|
1
|
D -> N (in GSD2)
|
VAR_004304
|
Natural variant site
|
647 - 647
|
1
|
C -> W (in GSD2)
|
VAR_004305
|
Natural variant site
|
648 - 648
|
1
|
G -> S (in GSD2)
|
VAR_004306
|
Natural variant site
|
660 - 660
|
1
|
R -> H (in GSD2; loss of function of the mutant enzyme)
|
VAR_046477
|
Natural variant site
|
672 - 672
|
1
|
R -> T (in GSD2)
|
VAR_046478
|
Natural variant site
|
672 - 672
|
1
|
R -> Q (in GSD2)
|
VAR_004307
|
Natural variant site
|
672 - 672
|
1
|
R -> W (in GSD2)
|
VAR_004308
|
Natural variant site
|
675 - 675
|
1
|
Missing (in GSD2; infantile form)
|
VAR_008692
|
Natural variant site
|
689 - 689
|
1
|
E -> K (in allele GAA*4; dbSNP:rs1800309)
|
VAR_004309
|
Natural variant site
|
702 - 702
|
1
|
R -> C (in GSD2; no enzymatic activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme)
|
VAR_046479
|
Natural variant site
|
725 - 725
|
1
|
R -> W (in GSD2; adult form; dbSNP:rs28939100)
|
VAR_004310
|
Natural variant site
|
746 - 746
|
1
|
W -> C (in dbSNP:rs1800312)
|
VAR_004311
|
Natural variant site
|
768 - 768
|
1
|
P -> R (in GSD2; infantile form)
|
VAR_004312
|
Natural variant site
|
780 - 780
|
1
|
I -> V (in dbSNP:rs1126690)
|
VAR_004313
|
Natural variant site
|
816 - 816
|
1
|
V -> I (in dbSNP:rs1800314)
|
VAR_004314
|
Natural variant site
|
880 - 880
|
1
|
A -> D (in GSD2; infantile form; severe; loss of activity)
|
VAR_018097
|
Natural variant site
|
901 - 901
|
1
|
L -> Q (in GSD2; infantile form; severe)
|
VAR_029039
|
Natural variant site
|
903 - 903
|
1
|
Missing (in GSD2; infantile form; severe; loss of activity)
|
VAR_004315
|
Natural variant site
|
925 - 925
|
1
|
N -> NGVPVSN (in GSD2)
|
VAR_004316
|
Natural variant site
|
927 - 927
|
1
|
T -> I (loss of glycosylation site; dbSNP:rs1800315)
|
VAR_004317
|
Natural variant site
|
949 - 949
|
1
|
V -> D (in GSD2)
|
VAR_004318
|
Amino acid modifications |
|
|
|
|
Disulfide bond
|
82 - 109
|
28
|
By similarity
|
P10253-DISULFID-82
|
Disulfide bond
|
92 - 108
|
17
|
By similarity
|
P10253-DISULFID-92
|
Disulfide bond
|
103 - 127
|
25
|
By similarity
|
P10253-DISULFID-103
|
Glycosylation
|
140 - 140
|
1
|
N-linked (GlcNAc...)
|
P10253-CARBOHYD-140
|
Glycosylation
|
233 - 233
|
1
|
N-linked (GlcNAc...)
|
P10253-CARBOHYD-233
|
Glycosylation
|
390 - 390
|
1
|
N-linked (GlcNAc...)
|
P10253-CARBOHYD-390
|
Glycosylation
|
470 - 470
|
1
|
N-linked (GlcNAc...)
|
P10253-CARBOHYD-470
|
Glycosylation
|
652 - 652
|
1
|
N-linked (GlcNAc...)
|
P10253-CARBOHYD-652
|
Glycosylation
|
882 - 882
|
1
|
N-linked (GlcNAc...)
|
P10253-CARBOHYD-882
|
Glycosylation
|
925 - 925
|
1
|
N-linked (GlcNAc...)
|
P10253-CARBOHYD-925
|
Experimental info |
|
|
|
|
Mutagenesis
|
516 - 516
|
1
|
W->R: Loss of activity
|
P10253-MUTAGEN-516
|
Mutagenesis
|
518 - 518
|
1
|
D->G,N,E: Loss of activity
|
P10253-MUTAGEN-518
|
|
|
|
|
|
|
|
|
|
|
|
|
1 |
MGVRHPPCSH |
RLLAVCALVS |
LATAALLGHI |
LLHDFLLVPR |
ELSGSSPVLE |
ETHPAHQQGA |
SRPGPRDAQA |
HPGRPRAVPT |
|
81 |
QCDVPPNSRF |
DCAPDKAITQ |
EQCEARGCCY |
IPAKQGLQGA |
QMGQPWCFFP |
PSYPSYKLEN |
LSSSEMGYTA |
TLTRTTPTFF |
|
161 |
PKDILTLRLD |
VMMETENRLH |
FTIKDPANRR |
YEVPLETPHV |
HSRAPSPLYS |
VEFSEEPFGV |
IVHRQLDGRV |
LLNTTVAPLF |
|
241 |
FADQFLQLST |
SLPSQYITGL |
AEHLSPLMLS |
TSWTRITLWN |
RDLAPTPGAN |
LYGSHPFYLA |
LEDGGSAHGV |
FLLNSNAMDV |
|
321 |
VLQPSPALSW |
RSTGGILDVY |
IFLGPEPKSV |
VQQYLDVVGY |
PFMPPYWGLG |
FHLCRWGYSS |
TAITRQVVEN |
MTRAHFPLDV |
|
401 |
QWNDLDYMDS |
RRDFTFNKDG |
FRDFPAMVQE |
LHQGGRRYMM |
IVDPAISSSG |
PAGSYRPYDE |
GLRRGVFITN |
ETGQPLIGKV |
|
481 |
WPGSTAFPDF |
TNPTALAWWE |
DMVAEFHDQV |
PFDGMWIDMN |
EPSNFIRGSE |
DGCPNNELEN |
PPYVPGVVGG |
TLQAATICAS |
|
561 |
SHQFLSTHYN |
LHNLYGLTEA |
IASHRALVKA |
RGTRPFVISR |
STFAGHGRYA |
GHWTGDVWSS |
WEQLASSVPE |
ILQFNLLGVP |
|
641 |
LVGADVCGFL |
GNTSEELCVR |
WTQLGAFYPF |
MRNHNSLLSL |
PQEPYSFSEP |
AQQAMRKALT |
LRYALLPHLY |
TLFHQAHVAG |
|
721 |
ETVARPLFLE |
FPKDSSTWTV |
DHQLLWGEAL |
LITPVLQAGK |
AEVTGYFPLG |
TWYDLQTVPI |
EALGSLPPPP |
AAPREPAIHS |
|
801 |
EGQWVTLPAP |
LDTINVHLRA |
GYIIPLQGPG |
LTTTESRQQP |
MALAVALTKG |
GEARGELFWD |
DGESLEVLER |
GAYTQVIFLA |
|
881 |
RNNTIVNELV |
RVTSEGAGLQ |
LQKVTVLGVA |
TAPQQVLSNG |
VPVSNFTYSP |
DTKVLDICVS |
LLMGEQFLVS |
WC |
|
|
|
|
|
|
|
|
|
|
|
|
>sp|P10253|LYAG_human Lysosomal alpha-glucosidase
MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPT
QCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFF
PKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVHRQLDGRVLLNTTVAPLF
FADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDV
VLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDV
QWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKV
WPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICAS
SHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVP
LVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAG
ETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPIEALGSLPPPPAAPREPAIHS
EGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLA
RNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC
|
|
|
| |
|
|
|
|
|
|