Feature key |
Position
|
Length
|
Description
|
Feature identifier
|
Molecule processing |
|
|
|
|
Signal
|
1 - 18
|
18
|
|
P15289-SIGNAL-1
|
Sites |
|
|
|
|
Active site
|
125 - 125
|
1
|
|
P15289-ACT_SITE-125
|
Binding site
|
123 - 123
|
1
|
Substrate
|
P15289-BINDING-123
|
Binding site
|
150 - 150
|
1
|
Substrate
|
P15289-BINDING-150
|
Binding site
|
229 - 229
|
1
|
Substrate
|
P15289-BINDING-229
|
Binding site
|
302 - 302
|
1
|
Substrate
|
P15289-BINDING-302
|
Metal binding
|
29 - 29
|
1
|
Calcium
|
P15289-METAL-29
|
Metal binding
|
30 - 30
|
1
|
Calcium
|
P15289-METAL-30
|
Metal binding
|
69 - 69
|
1
|
Calcium; via 3-oxoalanine
|
P15289-METAL-69
|
Metal binding
|
281 - 281
|
1
|
Calcium
|
P15289-METAL-281
|
Metal binding
|
282 - 282
|
1
|
Calcium
|
P15289-METAL-282
|
Natural variations |
|
|
|
|
Natural variant site
|
18 - 18
|
1
|
A -> D (in MLD; enzyme activity reduced to 5% of wild-type enzyme)
|
VAR_054164
|
Natural variant site
|
29 - 29
|
1
|
D -> N (in MLD; infantile-onset; causes a severe reduction of enzyme activity)
|
VAR_054165
|
Natural variant site
|
30 - 30
|
1
|
D -> H (in MLD; enzyme activity reduced to 2.4% of wild-type enzyme)
|
VAR_054166
|
Natural variant site
|
32 - 32
|
1
|
G -> S (in MLD; late-infantile form)
|
VAR_054167
|
Natural variant site
|
68 - 68
|
1
|
L -> P (in MLD; late-infantile form)
|
VAR_054168
|
Natural variant site
|
76 - 76
|
1
|
L -> P
|
VAR_007243
|
Natural variant site
|
82 - 82
|
1
|
P -> L (in MLD; late-infantile-onset; dbSNP:rs6151411)
|
VAR_007244
|
Natural variant site
|
84 - 84
|
1
|
R -> Q (in MLD; mild)
|
VAR_007245
|
Natural variant site
|
84 - 84
|
1
|
R -> W (in MLD; juvenile form)
|
VAR_054169
|
Natural variant site
|
86 - 86
|
1
|
G -> D (in MLD; severe; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment)
|
VAR_007246
|
Natural variant site
|
94 - 94
|
1
|
P -> A (in MLD; adult form)
|
VAR_054170
|
Natural variant site
|
95 - 95
|
1
|
S -> N (in MLD)
|
VAR_007247
|
Natural variant site
|
96 - 96
|
1
|
S -> L (in MLD; severe; no enzyme residual activity)
|
VAR_007249
|
Natural variant site
|
96 - 96
|
1
|
S -> F (in MLD; severe)
|
VAR_007248
|
Natural variant site
|
99 - 99
|
1
|
G -> D (in MLD; adult type)
|
VAR_007250
|
Natural variant site
|
99 - 99
|
1
|
G -> V (in MLD; late-infantile form)
|
VAR_054171
|
Natural variant site
|
119 - 119
|
1
|
G -> R (in MLD; juvenile-onset)
|
VAR_007251
|
Natural variant site
|
122 - 122
|
1
|
G -> S (in MLD; adult type)
|
VAR_007252
|
Natural variant site
|
135 - 135
|
1
|
L -> P (in MLD)
|
VAR_007253
|
Natural variant site
|
136 - 136
|
1
|
P -> L (in MLD; severe late-infantile type; loss of enzymatic activity)
|
VAR_007254
|
Natural variant site
|
136 - 136
|
1
|
P -> S (in MLD; late-infantile form)
|
VAR_054172
|
Natural variant site
|
137 - 137
|
1
|
Missing (in MLD)
|
VAR_054173
|
Natural variant site
|
143 - 143
|
1
|
R -> G (in MLD; juvenile/adult-onset; generates 5% as much activity as the parallel normal control)
|
VAR_054174
|
Natural variant site
|
148 - 148
|
1
|
P -> L (in MLD; juvenile-onset)
|
VAR_054175
|
Natural variant site
|
152 - 152
|
1
|
D -> Y (in MLD)
|
VAR_007255
|
Natural variant site
|
153 - 153
|
1
|
Q -> H (in MLD; late-infantile form; no enzyme residual activity)
|
VAR_054176
|
Natural variant site
|
154 - 154
|
1
|
G -> D (in MLD)
|
VAR_007256
|
Natural variant site
|
155 - 155
|
1
|
P -> R (in MLD)
|
VAR_007257
|
Natural variant site
|
155 - 155
|
1
|
P -> L (in MLD; juvenile-onset)
|
VAR_054177
|
Natural variant site
|
156 - 156
|
1
|
C -> R (in MLD; adult type; enzyme activity reduced to 50% of wild-type enzyme)
|
VAR_054178
|
Natural variant site
|
167 - 167
|
1
|
P -> R (in MLD)
|
VAR_007258
|
Natural variant site
|
169 - 169
|
1
|
D -> N (in MLD)
|
VAR_007259
|
Natural variant site
|
172 - 172
|
1
|
C -> Y (in MLD; juvenile-onset)
|
VAR_007260
|
Natural variant site
|
179 - 179
|
1
|
I -> S (in MLD; mild)
|
VAR_007261
|
Natural variant site
|
181 - 181
|
1
|
L -> Q (in MLD; infantile form)
|
VAR_054179
|
Natural variant site
|
190 - 190
|
1
|
Q -> H (in MLD; no enzyme residual activity)
|
VAR_054180
|
Natural variant site
|
191 - 191
|
1
|
P -> T (in MLD; juvenile-onset)
|
VAR_054181
|
Natural variant site
|
193 - 193
|
1
|
W -> C (in dbSNP:rs6151415)
|
VAR_007262
|
Natural variant site
|
201 - 201
|
1
|
Y -> C (in MLD; juvenile-onset; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment)
|
VAR_007263
|
Natural variant site
|
212 - 212
|
1
|
A -> P (in MLD; enzyme activity reduced to 2.6% of wild-type enzyme)
|
VAR_054182
|
Natural variant site
|
212 - 212
|
1
|
A -> V (in MLD)
|
VAR_007264
|
Natural variant site
|
217 - 217
|
1
|
R -> H (in MLD; enzyme activity reduced to 15.6% of wild-type enzyme)
|
VAR_054183
|
Natural variant site
|
219 - 219
|
1
|
F -> V (in MLD; enzyme activity reduced to less than 1% of normal activity)
|
VAR_054184
|
Natural variant site
|
224 - 224
|
1
|
A -> V (in MLD)
|
VAR_007265
|
Natural variant site
|
227 - 227
|
1
|
H -> Y (in MLD; late-infantile form)
|
VAR_054185
|
Natural variant site
|
231 - 231
|
1
|
P -> T (in MLD)
|
VAR_007266
|
Natural variant site
|
244 - 244
|
1
|
R -> H (in MLD; infantile-onset)
|
VAR_007268
|
Natural variant site
|
244 - 244
|
1
|
R -> C (in MLD; juvenile-onset)
|
VAR_007267
|
Natural variant site
|
245 - 245
|
1
|
G -> R (in MLD; severe; represents 20% of all alleles among Australians and about 85% of all Australians Lebanese alleles)
|
VAR_007269
|
Natural variant site
|
247 - 247
|
1
|
F -> S (in MLD)
|
VAR_054186
|
Natural variant site
|
250 - 250
|
1
|
S -> Y (in MLD; infantile-onset)
|
VAR_007270
|
Natural variant site
|
253 - 253
|
1
|
E -> K (in MLD; late-infantile)
|
VAR_054187
|
Natural variant site
|
255 - 255
|
1
|
D -> H (in MLD; late-infantile form; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment)
|
VAR_054188
|
Natural variant site
|
274 - 274
|
1
|
T -> M (in MLD; severe; 35% of normal activity)
|
VAR_007271
|
Natural variant site
|
281 - 281
|
1
|
D -> Y (in MLD)
|
VAR_054189
|
Natural variant site
|
282 - 282
|
1
|
N -> S (in MLD; enzyme activity reduced to 0.6% of wild-type enzyme)
|
VAR_054190
|
Natural variant site
|
286 - 286
|
1
|
T -> P (in MLD; adult type; dbSNP:rs28940894)
|
VAR_054191
|
Natural variant site
|
288 - 288
|
1
|
R -> H (in MLD; adult form)
|
VAR_054192
|
Natural variant site
|
288 - 288
|
1
|
R -> C (in MLD)
|
VAR_007272
|
Natural variant site
|
293 - 293
|
1
|
G -> S (in MLD; adult type; causes a severe reduction of enzyme activity)
|
VAR_054194
|
Natural variant site
|
293 - 293
|
1
|
G -> D (in MLD; late-onset)
|
VAR_054193
|
Natural variant site
|
294 - 294
|
1
|
C -> Y (in MLD; juvenile-onset; causes a severe reduction of enzyme activity)
|
VAR_054195
|
Natural variant site
|
295 - 295
|
1
|
S -> Y (in MLD; severe)
|
VAR_007273
|
Natural variant site
|
298 - 298
|
1
|
L -> S (in MLD; late-infantile form; complete loss of enzyme activity)
|
VAR_054196
|
Natural variant site
|
300 - 300
|
1
|
C -> F (in MLD; late-infantile-onset; enzyme activity reduced to less than 1%; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin does not increase the amount of the enzyme activity; strongly interferes with the octamerization process of the enzyme at low pH)
|
VAR_008132
|
Natural variant site
|
302 - 302
|
1
|
K -> N (in MLD; enzyme activity reduced to 2.8% of wild-type enzyme)
|
VAR_054197
|
Natural variant site
|
306 - 306
|
1
|
Y -> H (in MLD; juvenile-onset)
|
VAR_054198
|
Natural variant site
|
308 - 308
|
1
|
G -> V (in MLD; late-infantile form; no enzyme residual activity)
|
VAR_054200
|
Natural variant site
|
308 - 308
|
1
|
G -> D (in MLD; late-infantile form)
|
VAR_054199
|
Natural variant site
|
309 - 309
|
1
|
G -> S (in MLD; severe; 13% of normal activity)
|
VAR_007274
|
Natural variant site
|
311 - 311
|
1
|
R -> Q (in MLD; juvenile-onset)
|
VAR_007275
|
Natural variant site
|
312 - 312
|
1
|
E -> D (in MLD; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme)
|
VAR_054201
|
Natural variant site
|
314 - 314
|
1
|
A -> T (in MLD; infantile-onset)
|
VAR_007276
|
Natural variant site
|
325 - 325
|
1
|
G -> S (in MLD; juvenile-onset)
|
VAR_054202
|
Natural variant site
|
327 - 327
|
1
|
T -> I (in MLD; late-infantile form)
|
VAR_054203
|
Natural variant site
|
335 - 335
|
1
|
D -> V (in MLD; late-infantile-onset; loss of enzymatic activity)
|
VAR_007277
|
Natural variant site
|
350 - 350
|
1
|
N -> S (associated with arylsulfatase A pseudodeficiency; appeares to be responsible for the small size of the enzyme produced by pseudodeficiency fibroblasts because it leads to loss of an N-glycosylation site; dbSNP:rs2071421)
|
VAR_007278
|
Natural variant site
|
356 - 356
|
1
|
F -> V (in dbSNP:rs6151422)
|
VAR_018838
|
Natural variant site
|
367 - 367
|
1
|
K -> N (in MLD)
|
VAR_007279
|
Natural variant site
|
370 - 370
|
1
|
R -> W (in MLD; severe; no enzyme residual activity)
|
VAR_007281
|
Natural variant site
|
370 - 370
|
1
|
R -> Q (in MLD; mild)
|
VAR_007280
|
Natural variant site
|
376 - 376
|
1
|
Y -> N (in MLD; enzyme activity reduced to 4.7% of wild-type enzyme)
|
VAR_054204
|
Natural variant site
|
377 - 377
|
1
|
P -> L (in MLD; severe; high frequency among Habbanite Jews)
|
VAR_007282
|
Natural variant site
|
381 - 381
|
1
|
D -> E (in MLD; early-infantile form)
|
VAR_054205
|
Natural variant site
|
382 - 382
|
1
|
E -> K (in MLD; intermediate)
|
VAR_007283
|
Natural variant site
|
384 - 384
|
1
|
R -> C (in MLD)
|
VAR_007284
|
Natural variant site
|
390 - 390
|
1
|
R -> W (in MLD; late-infantile and juvenile-onset)
|
VAR_007286
|
Natural variant site
|
390 - 390
|
1
|
R -> Q (in MLD; juvenile-onset)
|
VAR_007285
|
Natural variant site
|
391 - 391
|
1
|
T -> S (in dbSNP:rs743616)
|
VAR_007287
|
Natural variant site
|
397 - 397
|
1
|
H -> Y (in MLD; adult-onset)
|
VAR_007288
|
Natural variant site
|
398 - 398
|
1
|
Missing (in MLD)
|
VAR_007289
|
Natural variant site
|
406 - 408
|
3
|
Missing (in MLD; late-infantile-onset)
|
VAR_007290
|
Natural variant site
|
408 - 408
|
1
|
T -> I (in MLD; adult type; dbSNP:rs28940895)
|
VAR_054206
|
Natural variant site
|
409 - 409
|
1
|
T -> I (in MLD; mild)
|
VAR_054207
|
Natural variant site
|
425 - 425
|
1
|
P -> T (in MLD; juvenile-onset; retains about 12% of specific enzyme activity; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin increases the amount of the enzyme activity; displays a modest reduction in the octamerization process of the enzyme at low pH)
|
VAR_008133
|
Natural variant site
|
426 - 426
|
1
|
P -> L (in MLD; juvenile/adult-onset; mild; common mutation; dbSNP:rs28940893)
|
VAR_007291
|
Natural variant site
|
428 - 428
|
1
|
L -> P (in MLD; late-infantile form)
|
VAR_054208
|
Natural variant site
|
429 - 429
|
1
|
Y -> S (in MLD; adult-onset)
|
VAR_054209
|
Natural variant site
|
440 - 440
|
1
|
N -> S (in dbSNP:rs6151427)
|
VAR_018839
|
Natural variant site
|
464 - 464
|
1
|
A -> V
|
VAR_007292
|
Natural variant site
|
469 - 469
|
1
|
A -> G (in MLD; early-infantile form)
|
VAR_054210
|
Natural variant site
|
489 - 489
|
1
|
C -> G (in MLD; late-onset)
|
VAR_054211
|
Natural variant site
|
496 - 496
|
1
|
R -> H (in dbSNP:rs6151428)
|
VAR_007293
|
Amino acid modifications |
|
|
|
|
Disulfide bond
|
156 - 172
|
17
|
|
P15289-DISULFID-156
|
Disulfide bond
|
161 - 168
|
8
|
|
P15289-DISULFID-161
|
Disulfide bond
|
300 - 414
|
115
|
|
P15289-DISULFID-300
|
Disulfide bond
|
488 - 500
|
13
|
|
P15289-DISULFID-488
|
Disulfide bond
|
489 - 502
|
14
|
|
P15289-DISULFID-489
|
Disulfide bond
|
493 - 499
|
7
|
|
P15289-DISULFID-493
|
Glycosylation
|
158 - 158
|
1
|
N-linked (GlcNAc...)
|
P15289-CARBOHYD-158
|
Glycosylation
|
184 - 184
|
1
|
N-linked (GlcNAc...)
|
P15289-CARBOHYD-184
|
Glycosylation
|
350 - 350
|
1
|
N-linked (GlcNAc...)
|
P15289-CARBOHYD-350
|
Modified residue
|
69 - 69
|
1
|
3-oxoalanine (Cys)
|
P15289-MOD_RES-69
|
Experimental info |
|
|
|
|
Mutagenesis
|
69 - 69
|
1
|
C->S: Strongly decreases enzyme activity
|
P15289-MUTAGEN-69
|