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P15289

- ARSA_HUMAN

UniProt

P15289 - ARSA_HUMAN

Protein

Arylsulfatase A

Gene

ARSA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 168 (01 Oct 2014)
      Sequence version 3 (01 Feb 1991)
      Previous versions | rss
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    Functioni

    Hydrolyzes cerebroside sulfate.

    Catalytic activityi

    A cerebroside 3-sulfate + H2O = a cerebroside + sulfate.

    Cofactori

    Binds 1 calcium ion per subunit.1 Publication

    Enzyme regulationi

    Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi29 – 291Calcium
    Metal bindingi30 – 301Calcium
    Metal bindingi69 – 691Calcium; via 3-oxoalanine
    Binding sitei123 – 1231Substrate
    Active sitei125 – 12511 Publication
    Binding sitei150 – 1501Substrate
    Binding sitei229 – 2291Substrate
    Metal bindingi281 – 2811Calcium
    Metal bindingi282 – 2821Calcium
    Binding sitei302 – 3021Substrate

    GO - Molecular functioni

    1. arylsulfatase activity Source: ProtInc
    2. calcium ion binding Source: UniProtKB
    3. cerebroside-sulfatase activity Source: Reactome
    4. sulfuric ester hydrolase activity Source: MGI

    GO - Biological processi

    1. autophagy Source: Ensembl
    2. binding of sperm to zona pellucida Source: Ensembl
    3. cellular protein metabolic process Source: Reactome
    4. central nervous system development Source: Ensembl
    5. glycosphingolipid metabolic process Source: Reactome
    6. post-translational protein modification Source: Reactome
    7. response to estrogen Source: Ensembl
    8. response to ethanol Source: Ensembl
    9. response to methylmercury Source: Ensembl
    10. response to nutrient Source: Ensembl
    11. response to pH Source: Ensembl
    12. small molecule metabolic process Source: Reactome
    13. sphingolipid metabolic process Source: Reactome

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Ligandi

    Calcium, Metal-binding

    Enzyme and pathway databases

    BRENDAi3.1.6.8. 2681.
    ReactomeiREACT_116105. Glycosphingolipid metabolism.
    REACT_121036. The activation of arylsulfatases.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Arylsulfatase A (EC:3.1.6.8)
    Short name:
    ASA
    Alternative name(s):
    Cerebroside-sulfatase
    Cleaved into the following 2 chains:
    Gene namesi
    Name:ARSA
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:713. ARSA.

    Subcellular locationi

    GO - Cellular componenti

    1. acrosomal vesicle Source: Ensembl
    2. endoplasmic reticulum lumen Source: Reactome
    3. endosome Source: Ensembl
    4. extracellular space Source: Ensembl
    5. extracellular vesicular exosome Source: UniProt
    6. extrinsic component of external side of plasma membrane Source: Ensembl
    7. integral component of membrane Source: Ensembl
    8. lysosomal lumen Source: Reactome
    9. lysosome Source: ProtInc

    Keywords - Cellular componenti

    Lysosome

    Pathology & Biotechi

    Involvement in diseasei

    Leukodystrophy metachromatic (MLD) [MIM:250100]: A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult.39 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti18 – 181A → D in MLD; enzyme activity reduced to 5% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476339 [ dbSNP | Ensembl ].
    VAR_054164
    Natural varianti29 – 291D → N in MLD; infantile-onset; causes a severe reduction of enzyme activity. 1 Publication
    Corresponds to variant rs199476346 [ dbSNP | Ensembl ].
    VAR_054165
    Natural varianti30 – 301D → H in MLD; enzyme activity reduced to 2.4% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476340 [ dbSNP | Ensembl ].
    VAR_054166
    Natural varianti32 – 321G → S in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs199476350 [ dbSNP | Ensembl ].
    VAR_054167
    Natural varianti52 – 521L → P in MLD; loss of enzymatic activity. 1 Publication
    Corresponds to variant rs199476357 [ dbSNP | Ensembl ].
    VAR_067414
    Natural varianti68 – 681L → P in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs199476351 [ dbSNP | Ensembl ].
    VAR_054168
    Natural varianti82 – 821P → L in MLD; late-infantile-onset. 2 Publications
    Corresponds to variant rs6151411 [ dbSNP | Ensembl ].
    VAR_007244
    Natural varianti84 – 841R → Q in MLD; mild. 2 Publications
    Corresponds to variant rs74315458 [ dbSNP | Ensembl ].
    VAR_007245
    Natural varianti84 – 841R → W in MLD; juvenile form. 1 Publication
    Corresponds to variant rs199476352 [ dbSNP | Ensembl ].
    VAR_054169
    Natural varianti86 – 861G → 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. 2 Publications
    Corresponds to variant rs74315460 [ dbSNP | Ensembl ].
    VAR_007246
    Natural varianti94 – 941P → A in MLD; adult form. 1 Publication
    Corresponds to variant rs199476353 [ dbSNP | Ensembl ].
    VAR_054170
    Natural varianti95 – 951S → N in MLD. 1 Publication
    Corresponds to variant rs199476363 [ dbSNP | Ensembl ].
    VAR_007247
    Natural varianti96 – 961S → F in MLD; severe. 1 Publication
    Corresponds to variant rs74315456 [ dbSNP | Ensembl ].
    VAR_007248
    Natural varianti96 – 961S → L in MLD; severe; no enzyme residual activity. 1 Publication
    Corresponds to variant rs199476371 [ dbSNP | Ensembl ].
    VAR_007249
    Natural varianti99 – 991G → D in MLD; adult type. 2 Publications
    Corresponds to variant rs74315455 [ dbSNP | Ensembl ].
    VAR_007250
    Natural varianti99 – 991G → V in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs74315455 [ dbSNP | Ensembl ].
    VAR_054171
    Natural varianti119 – 1191G → R in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476364 [ dbSNP | Ensembl ].
    VAR_007251
    Natural varianti122 – 1221G → S in MLD; adult type. 1 Publication
    Corresponds to variant rs74315461 [ dbSNP | Ensembl ].
    VAR_007252
    Natural varianti135 – 1351L → P in MLD. 1 Publication
    Corresponds to variant rs121434215 [ dbSNP | Ensembl ].
    VAR_007253
    Natural varianti136 – 1361P → L in MLD; severe late-infantile type; loss of enzymatic activity. 1 Publication
    Corresponds to variant rs74315462 [ dbSNP | Ensembl ].
    VAR_007254
    Natural varianti136 – 1361P → S in MLD; late-infantile form. 2 Publications
    Corresponds to variant rs60504011 [ dbSNP | Ensembl ].
    VAR_054172
    Natural varianti137 – 1371Missing in MLD. 1 Publication
    VAR_054173
    Natural varianti138 – 1381H → D in MLD; significantly lower activity than wild-type protein. 1 Publication
    Corresponds to variant rs199476358 [ dbSNP | Ensembl ].
    VAR_067415
    Natural varianti143 – 1431R → G in MLD; juvenile/adult-onset; generates 5% as much activity as the parallel normal control. 1 Publication
    Corresponds to variant rs199476373 [ dbSNP | Ensembl ].
    VAR_054174
    Natural varianti148 – 1481P → L in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476375 [ dbSNP | Ensembl ].
    VAR_054175
    Natural varianti152 – 1521D → Y in MLD. 1 Publication
    Corresponds to variant rs199476365 [ dbSNP | Ensembl ].
    VAR_007255
    Natural varianti153 – 1531Q → H in MLD; late-infantile form; no enzyme residual activity. 1 Publication
    Corresponds to variant rs199476377 [ dbSNP | Ensembl ].
    VAR_054176
    Natural varianti154 – 1541G → D in MLD. 1 Publication
    Corresponds to variant rs74315463 [ dbSNP | Ensembl ].
    VAR_007256
    Natural varianti155 – 1551P → L in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs74315464 [ dbSNP | Ensembl ].
    VAR_054177
    Natural varianti155 – 1551P → R in MLD.
    Corresponds to variant rs74315464 [ dbSNP | Ensembl ].
    VAR_007257
    Natural varianti156 – 1561C → R in MLD; adult type; enzyme activity reduced to 50% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476348 [ dbSNP | Ensembl ].
    VAR_054178
    Natural varianti167 – 1671P → R in MLD.
    Corresponds to variant rs74315465 [ dbSNP | Ensembl ].
    VAR_007258
    Natural varianti169 – 1691D → N in MLD.
    Corresponds to variant rs74315466 [ dbSNP | Ensembl ].
    VAR_007259
    Natural varianti172 – 1721C → Y in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476381 [ dbSNP | Ensembl ].
    VAR_007260
    Natural varianti179 – 1791I → S in MLD; mild. 5 Publications
    Corresponds to variant rs74315457 [ dbSNP | Ensembl ].
    VAR_007261
    Natural varianti181 – 1811L → Q in MLD; infantile form. 1 Publication
    Corresponds to variant rs199476378 [ dbSNP | Ensembl ].
    VAR_054179
    Natural varianti190 – 1901Q → H in MLD; no enzyme residual activity. 1 Publication
    Corresponds to variant rs199476372 [ dbSNP | Ensembl ].
    VAR_054180
    Natural varianti191 – 1911P → T in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476374 [ dbSNP | Ensembl ].
    VAR_054181
    Natural varianti201 – 2011Y → C in MLD; juvenile-onset; results in higly reduced enzyme activity and stability; the mutant enzyme is kept in a prelysosomal compartment. 3 Publications
    Corresponds to variant rs199476345 [ dbSNP | Ensembl ].
    VAR_007263
    Natural varianti212 – 2121A → P in MLD; loss of enzymatic activity. 2 Publications
    Corresponds to variant rs199476341 [ dbSNP | Ensembl ].
    VAR_054182
    Natural varianti212 – 2121A → V in MLD. 3 Publications
    Corresponds to variant rs74315467 [ dbSNP | Ensembl ].
    VAR_007264
    Natural varianti217 – 2171R → H in MLD; enzyme activity reduced to 15.6% of wild-type enzyme. 1 Publication
    Corresponds to variant rs148403406 [ dbSNP | Ensembl ].
    VAR_054183
    Natural varianti219 – 2191F → V in MLD; enzyme activity reduced to less than 1% of normal activity. 1 Publication
    Corresponds to variant rs199476383 [ dbSNP | Ensembl ].
    VAR_054184
    Natural varianti224 – 2241A → V in MLD. 1 Publication
    Corresponds to variant rs74315468 [ dbSNP | Ensembl ].
    VAR_007265
    Natural varianti227 – 2271H → Y in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs199476354 [ dbSNP | Ensembl ].
    VAR_054185
    Natural varianti231 – 2311P → T in MLD.
    Corresponds to variant rs74315469 [ dbSNP | Ensembl ].
    VAR_007266
    Natural varianti244 – 2441R → C in MLD; juvenile-onset.
    Corresponds to variant rs74315470 [ dbSNP | Ensembl ].
    VAR_007267
    Natural varianti244 – 2441R → H in MLD; infantile-onset. 1 Publication
    Corresponds to variant rs199476366 [ dbSNP | Ensembl ].
    VAR_007268
    Natural varianti245 – 2451G → R in MLD; severe. 1 Publication
    Corresponds to variant rs74315471 [ dbSNP | Ensembl ].
    VAR_007269
    Natural varianti247 – 2471F → S in MLD. 2 Publications
    Corresponds to variant rs199476384 [ dbSNP | Ensembl ].
    VAR_054186
    Natural varianti250 – 2501S → Y in MLD; infantile-onset. 1 Publication
    Corresponds to variant rs199476367 [ dbSNP | Ensembl ].
    VAR_007270
    Natural varianti253 – 2531E → K in MLD; late-infantile. 2 Publications
    Corresponds to variant rs74315483 [ dbSNP | Ensembl ].
    VAR_054187
    Natural varianti255 – 2551D → 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. 2 Publications
    Corresponds to variant rs80338819 [ dbSNP | Ensembl ].
    VAR_054188
    Natural varianti274 – 2741T → M in MLD; severe; 35% of normal activity. 2 Publications
    Corresponds to variant rs74315472 [ dbSNP | Ensembl ].
    VAR_007271
    Natural varianti281 – 2811D → Y in MLD. 1 Publication
    Corresponds to variant rs199476386 [ dbSNP | Ensembl ].
    VAR_054189
    Natural varianti282 – 2821N → S in MLD; enzyme activity reduced to 0.6% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476342 [ dbSNP | Ensembl ].
    VAR_054190
    Natural varianti286 – 2861T → P in MLD; adult type. 1 Publication
    Corresponds to variant rs28940894 [ dbSNP | Ensembl ].
    VAR_054191
    Natural varianti288 – 2881R → C in MLD. 1 Publication
    Corresponds to variant rs74315473 [ dbSNP | Ensembl ].
    VAR_007272
    Natural varianti288 – 2881R → H in MLD; adult form. 1 Publication
    Corresponds to variant rs199476355 [ dbSNP | Ensembl ].
    VAR_054192
    Natural varianti293 – 2931G → D in MLD; late-onset. 1 Publication
    Corresponds to variant rs199476387 [ dbSNP | Ensembl ].
    VAR_054193
    Natural varianti293 – 2931G → S in MLD; adult type; causes a severe reduction of enzyme activity. 1 Publication
    Corresponds to variant rs199476349 [ dbSNP | Ensembl ].
    VAR_054194
    Natural varianti294 – 2941C → Y in MLD; juvenile-onset; causes a severe reduction of enzyme activity. 1 Publication
    Corresponds to variant rs199476347 [ dbSNP | Ensembl ].
    VAR_054195
    Natural varianti295 – 2951S → Y in MLD; severe. 1 Publication
    Corresponds to variant rs74315474 [ dbSNP | Ensembl ].
    VAR_007273
    Natural varianti298 – 2981L → S in MLD; late-infantile form; complete loss of enzyme activity. 1 Publication
    Corresponds to variant rs199476389 [ dbSNP | Ensembl ].
    VAR_054196
    Natural varianti300 – 3001C → F in MLD; late-infantile-onset; enzyme activity reduced to less than 1%; the mutant protein is more rapidly degraded in lysosomes; strongly interferes with the octamerization process of the enzyme at low pH. 1 Publication
    Corresponds to variant rs74315484 [ dbSNP | Ensembl ].
    VAR_008132
    Natural varianti302 – 3021K → N in MLD; enzyme activity reduced to 2.8% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476343 [ dbSNP | Ensembl ].
    VAR_054197
    Natural varianti304 – 3041T → M in MLD; loss of enzymatic activity. 1 Publication
    Corresponds to variant rs199476359 [ dbSNP | Ensembl ].
    VAR_067416
    Natural varianti306 – 3061Y → H in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476379 [ dbSNP | Ensembl ].
    VAR_054198
    Natural varianti307 – 3071E → K in MLD; loss of enzymatic activity. 1 Publication
    Corresponds to variant rs199476360 [ dbSNP | Ensembl ].
    VAR_067417
    Natural varianti308 – 3081G → D in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs199476356 [ dbSNP | Ensembl ].
    VAR_054199
    Natural varianti308 – 3081G → V in MLD; late-infantile form; no enzyme residual activity. 1 Publication
    Corresponds to variant rs199476356 [ dbSNP | Ensembl ].
    VAR_054200
    Natural varianti309 – 3091G → S in MLD; severe; 13% of normal activity. 2 Publications
    Corresponds to variant rs74315459 [ dbSNP | Ensembl ].
    VAR_007274
    Natural varianti311 – 3111R → Q in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476382 [ dbSNP | Ensembl ].
    VAR_007275
    Natural varianti312 – 3121E → D in MLD; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme. 1 Publication
    Corresponds to variant rs199476390 [ dbSNP | Ensembl ].
    VAR_054201
    Natural varianti314 – 3141A → T in MLD; infantile-onset. 1 Publication
    Corresponds to variant rs199476368 [ dbSNP | Ensembl ].
    VAR_007276
    Natural varianti325 – 3251G → S in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs148092995 [ dbSNP | Ensembl ].
    VAR_054202
    Natural varianti327 – 3271T → I in MLD; late-infantile form. 1 Publication
    VAR_054203
    Natural varianti335 – 3351D → V in MLD; late-infantile-onset; loss of enzymatic activity. 4 Publications
    Corresponds to variant rs74315475 [ dbSNP | Ensembl ].
    VAR_007277
    Natural varianti367 – 3671K → N in MLD. 1 Publication
    Corresponds to variant rs199476369 [ dbSNP | Ensembl ].
    VAR_007279
    Natural varianti370 – 3701R → Q in MLD; mild.
    Corresponds to variant rs74315477 [ dbSNP | Ensembl ].
    VAR_007280
    Natural varianti370 – 3701R → W in MLD; severe; no enzyme residual activity. 2 Publications
    Corresponds to variant rs74315476 [ dbSNP | Ensembl ].
    VAR_007281
    Natural varianti376 – 3761Y → N in MLD; enzyme activity reduced to 4.7% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476344 [ dbSNP | Ensembl ].
    VAR_054204
    Natural varianti377 – 3771P → L in MLD; severe. 1 Publication
    Corresponds to variant rs74315478 [ dbSNP | Ensembl ].
    VAR_007282
    Natural varianti381 – 3811D → E in MLD; early-infantile form.
    Corresponds to variant rs6151425 [ dbSNP | Ensembl ].
    VAR_054205
    Natural varianti382 – 3821E → K in MLD; intermediate. 1 Publication
    Corresponds to variant rs74315479 [ dbSNP | Ensembl ].
    VAR_007283
    Natural varianti384 – 3841R → C in MLD. 1 Publication
    Corresponds to variant rs199476370 [ dbSNP | Ensembl ].
    VAR_007284
    Natural varianti390 – 3901R → Q in MLD; juvenile-onset. 2 Publications
    Corresponds to variant rs199476391 [ dbSNP | Ensembl ].
    VAR_007285
    Natural varianti390 – 3901R → W in MLD; late-infantile and juvenile-onset. 3 Publications
    Corresponds to variant rs74315480 [ dbSNP | Ensembl ].
    VAR_007286
    Natural varianti397 – 3971H → Y in MLD; adult-onset. 3 Publications
    Corresponds to variant rs199476376 [ dbSNP | Ensembl ].
    VAR_007288
    Natural varianti398 – 3981Missing in MLD.
    VAR_007289
    Natural varianti406 – 4083Missing in MLD; late-infantile-onset. 1 Publication
    VAR_007290
    Natural varianti406 – 4061S → G in MLD; loss of enzymatic activity. 1 Publication
    Corresponds to variant rs199476361 [ dbSNP | Ensembl ].
    VAR_067418
    Natural varianti408 – 4081T → I in MLD; adult type. 1 Publication
    Corresponds to variant rs28940895 [ dbSNP | Ensembl ].
    VAR_054206
    Natural varianti409 – 4091T → I in MLD; mild. 2 Publications
    Corresponds to variant rs74315481 [ dbSNP | Ensembl ].
    VAR_054207
    Natural varianti425 – 4251P → 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. 1 Publication
    Corresponds to variant rs74315485 [ dbSNP | Ensembl ].
    VAR_008133
    Natural varianti426 – 4261P → L in MLD; juvenile/adult-onset; mild; common mutation. 8 Publications
    Corresponds to variant rs28940893 [ dbSNP | Ensembl ].
    VAR_007291
    Natural varianti428 – 4281L → P in MLD; late-infantile form. 2 Publications
    Corresponds to variant rs199476392 [ dbSNP | Ensembl ].
    VAR_054208
    Natural varianti429 – 4291Y → S in MLD; adult-onset. 1 Publication
    Corresponds to variant rs199476380 [ dbSNP | Ensembl ].
    VAR_054209
    Natural varianti469 – 4691A → G in MLD; early-infantile form. 1 Publication
    Corresponds to variant rs199476385 [ dbSNP | Ensembl ].
    VAR_054210
    Natural varianti489 – 4891C → G in MLD; late-onset. 1 Publication
    Corresponds to variant rs199476388 [ dbSNP | Ensembl ].
    VAR_054211
    Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.1 Publication
    Note: The protein represented in this entry is involved in disease pathogenesis. Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanine.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi69 – 691C → A: Abolishes enzyme activity. 1 Publication
    Mutagenesisi69 – 691C → S: Strongly decreases enzyme activity. 1 Publication

    Keywords - Diseasei

    Disease mutation, Ichthyosis, Leukodystrophy, Metachromatic leukodystrophy

    Organism-specific databases

    MIMi250100. phenotype.
    272200. phenotype.
    Orphaneti309271. Metachromatic leukodystrophy, adult form.
    309263. Metachromatic leukodystrophy, juvenile form.
    309256. Metachromatic leukodystrophy, late infantile form.
    751. Pseudoarylsulfatase A deficiency.
    PharmGKBiPA25005.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 18181 PublicationAdd
    BLAST
    Chaini19 – 507489Arylsulfatase APRO_0000033417Add
    BLAST
    Chaini19 – 444426Arylsulfatase A component BPRO_0000033418Add
    BLAST
    Chaini448 – 50760Arylsulfatase A component CPRO_0000033419Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei69 – 6913-oxoalanine (Cys)
    Disulfide bondi156 ↔ 172
    Glycosylationi158 – 1581N-linked (GlcNAc...)2 Publications
    Disulfide bondi161 ↔ 168
    Glycosylationi184 – 1841N-linked (GlcNAc...)1 Publication
    Disulfide bondi300 ↔ 414
    Glycosylationi350 – 3501N-linked (GlcNAc...)1 Publication
    Disulfide bondi488 ↔ 500
    Disulfide bondi489 ↔ 502
    Disulfide bondi493 ↔ 499

    Post-translational modificationi

    The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP15289.
    PaxDbiP15289.
    PRIDEiP15289.

    PTM databases

    UniCarbKBiP15289.

    Miscellaneous databases

    PMAP-CutDBP15289.

    Expressioni

    Gene expression databases

    BgeeiP15289.
    CleanExiHS_ARSA.
    GenevestigatoriP15289.

    Organism-specific databases

    HPAiCAB025183.
    HPA005554.

    Interactioni

    Subunit structurei

    Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1.3 Publications

    Protein-protein interaction databases

    BioGridi106903. 4 interactions.
    IntActiP15289. 5 interactions.
    STRINGi9606.ENSP00000216124.

    Structurei

    Secondary structure

    1
    507
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi22 – 309
    Helixi37 – 393
    Helixi47 – 548
    Beta strandi56 – 638
    Beta strandi65 – 684
    Helixi69 – 7810
    Helixi82 – 854
    Helixi107 – 1126
    Turni113 – 1153
    Beta strandi117 – 1226
    Helixi130 – 1323
    Helixi136 – 1394
    Beta strandi142 – 1465
    Beta strandi153 – 1553
    Beta strandi159 – 1624
    Turni163 – 1653
    Beta strandi181 – 1833
    Beta strandi186 – 1916
    Helixi194 – 1963
    Helixi197 – 21418
    Beta strandi219 – 2246
    Beta strandi229 – 2313
    Turni236 – 2416
    Beta strandi242 – 2443
    Helixi245 – 26723
    Helixi271 – 2733
    Beta strandi274 – 2829
    Helixi286 – 2916
    Beta strandi304 – 3063
    Helixi307 – 3104
    Beta strandi315 – 3173
    Turni319 – 3213
    Beta strandi324 – 3274
    Helixi333 – 3353
    Helixi336 – 3438
    Helixi359 – 3635
    Beta strandi372 – 3754
    Turni382 – 3843
    Beta strandi387 – 3915
    Beta strandi394 – 4007
    Helixi404 – 4063
    Beta strandi408 – 4103
    Helixi412 – 4143
    Beta strandi421 – 43010
    Turni431 – 4333
    Helixi450 – 46920
    Helixi477 – 4793
    Helixi483 – 4853
    Turni496 – 4994

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1AUKX-ray2.10A19-507[»]
    1E1ZX-ray2.40P19-507[»]
    1E2SX-ray2.35P19-507[»]
    1E33X-ray2.50P19-507[»]
    1E3CX-ray2.65P19-507[»]
    1N2KX-ray2.75A19-507[»]
    1N2LX-ray3.20A19-507[»]
    2AIJX-ray1.55P69-73[»]
    2AIKX-ray1.73P68-74[»]
    2HI8X-ray1.64P69-73[»]
    ProteinModelPortaliP15289.
    SMRiP15289. Positions 19-504.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP15289.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the sulfatase family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG3119.
    HOGENOMiHOG000135352.
    HOVERGENiHBG004283.
    InParanoidiP15289.
    KOiK01134.
    OrthoDBiEOG7QZG9J.
    PhylomeDBiP15289.

    Family and domain databases

    Gene3Di3.40.720.10. 1 hit.
    InterProiIPR017849. Alkaline_Pase-like_a/b/a.
    IPR017850. Alkaline_phosphatase_core.
    IPR000917. Sulfatase.
    IPR024607. Sulfatase_CS.
    [Graphical view]
    PfamiPF00884. Sulfatase. 1 hit.
    [Graphical view]
    SUPFAMiSSF53649. SSF53649. 1 hit.
    PROSITEiPS00523. SULFATASE_1. 1 hit.
    PS00149. SULFATASE_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P15289-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGAPRSLLLA LAAGLAVARP PNIVLIFADD LGYGDLGCYG HPSSTTPNLD    50
    QLAAGGLRFT DFYVPVSLCT PSRAALLTGR LPVRMGMYPG VLVPSSRGGL 100
    PLEEVTVAEV LAARGYLTGM AGKWHLGVGP EGAFLPPHQG FHRFLGIPYS 150
    HDQGPCQNLT CFPPATPCDG GCDQGLVPIP LLANLSVEAQ PPWLPGLEAR 200
    YMAFAHDLMA DAQRQDRPFF LYYASHHTHY PQFSGQSFAE RSGRGPFGDS 250
    LMELDAAVGT LMTAIGDLGL LEETLVIFTA DNGPETMRMS RGGCSGLLRC 300
    GKGTTYEGGV REPALAFWPG HIAPGVTHEL ASSLDLLPTL AALAGAPLPN 350
    VTLDGFDLSP LLLGTGKSPR QSLFFYPSYP DEVRGVFAVR TGKYKAHFFT 400
    QGSAHSDTTA DPACHASSSL TAHEPPLLYD LSKDPGENYN LLGGVAGATP 450
    EVLQALKQLQ LLKAQLDAAV TFGPSQVARG EDPALQICCH PGCTPRPACC 500
    HCPDPHA 507
    Length:507
    Mass (Da):53,588
    Last modified:February 1, 1991 - v3
    Checksum:i3DDBE1378B4176A6
    GO
    Isoform 2 (identifier: P15289-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-84: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:423
    Mass (Da):44,881
    Checksum:iD67E0EE072BEC7BB
    GO

    Sequence cautioni

    The sequence AAB03341.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAH11167.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti290 – 2901S → P in AK098659. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti18 – 181A → D in MLD; enzyme activity reduced to 5% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476339 [ dbSNP | Ensembl ].
    VAR_054164
    Natural varianti29 – 291D → N in MLD; infantile-onset; causes a severe reduction of enzyme activity. 1 Publication
    Corresponds to variant rs199476346 [ dbSNP | Ensembl ].
    VAR_054165
    Natural varianti30 – 301D → H in MLD; enzyme activity reduced to 2.4% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476340 [ dbSNP | Ensembl ].
    VAR_054166
    Natural varianti32 – 321G → S in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs199476350 [ dbSNP | Ensembl ].
    VAR_054167
    Natural varianti52 – 521L → P in MLD; loss of enzymatic activity. 1 Publication
    Corresponds to variant rs199476357 [ dbSNP | Ensembl ].
    VAR_067414
    Natural varianti68 – 681L → P in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs199476351 [ dbSNP | Ensembl ].
    VAR_054168
    Natural varianti76 – 761L → P.1 Publication
    Corresponds to variant rs199476362 [ dbSNP | Ensembl ].
    VAR_007243
    Natural varianti82 – 821P → L in MLD; late-infantile-onset. 2 Publications
    Corresponds to variant rs6151411 [ dbSNP | Ensembl ].
    VAR_007244
    Natural varianti84 – 841R → Q in MLD; mild. 2 Publications
    Corresponds to variant rs74315458 [ dbSNP | Ensembl ].
    VAR_007245
    Natural varianti84 – 841R → W in MLD; juvenile form. 1 Publication
    Corresponds to variant rs199476352 [ dbSNP | Ensembl ].
    VAR_054169
    Natural varianti86 – 861G → 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. 2 Publications
    Corresponds to variant rs74315460 [ dbSNP | Ensembl ].
    VAR_007246
    Natural varianti94 – 941P → A in MLD; adult form. 1 Publication
    Corresponds to variant rs199476353 [ dbSNP | Ensembl ].
    VAR_054170
    Natural varianti95 – 951S → N in MLD. 1 Publication
    Corresponds to variant rs199476363 [ dbSNP | Ensembl ].
    VAR_007247
    Natural varianti96 – 961S → F in MLD; severe. 1 Publication
    Corresponds to variant rs74315456 [ dbSNP | Ensembl ].
    VAR_007248
    Natural varianti96 – 961S → L in MLD; severe; no enzyme residual activity. 1 Publication
    Corresponds to variant rs199476371 [ dbSNP | Ensembl ].
    VAR_007249
    Natural varianti99 – 991G → D in MLD; adult type. 2 Publications
    Corresponds to variant rs74315455 [ dbSNP | Ensembl ].
    VAR_007250
    Natural varianti99 – 991G → V in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs74315455 [ dbSNP | Ensembl ].
    VAR_054171
    Natural varianti119 – 1191G → R in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476364 [ dbSNP | Ensembl ].
    VAR_007251
    Natural varianti122 – 1221G → S in MLD; adult type. 1 Publication
    Corresponds to variant rs74315461 [ dbSNP | Ensembl ].
    VAR_007252
    Natural varianti135 – 1351L → P in MLD. 1 Publication
    Corresponds to variant rs121434215 [ dbSNP | Ensembl ].
    VAR_007253
    Natural varianti136 – 1361P → L in MLD; severe late-infantile type; loss of enzymatic activity. 1 Publication
    Corresponds to variant rs74315462 [ dbSNP | Ensembl ].
    VAR_007254
    Natural varianti136 – 1361P → S in MLD; late-infantile form. 2 Publications
    Corresponds to variant rs60504011 [ dbSNP | Ensembl ].
    VAR_054172
    Natural varianti137 – 1371Missing in MLD. 1 Publication
    VAR_054173
    Natural varianti138 – 1381H → D in MLD; significantly lower activity than wild-type protein. 1 Publication
    Corresponds to variant rs199476358 [ dbSNP | Ensembl ].
    VAR_067415
    Natural varianti143 – 1431R → G in MLD; juvenile/adult-onset; generates 5% as much activity as the parallel normal control. 1 Publication
    Corresponds to variant rs199476373 [ dbSNP | Ensembl ].
    VAR_054174
    Natural varianti148 – 1481P → L in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476375 [ dbSNP | Ensembl ].
    VAR_054175
    Natural varianti152 – 1521D → Y in MLD. 1 Publication
    Corresponds to variant rs199476365 [ dbSNP | Ensembl ].
    VAR_007255
    Natural varianti153 – 1531Q → H in MLD; late-infantile form; no enzyme residual activity. 1 Publication
    Corresponds to variant rs199476377 [ dbSNP | Ensembl ].
    VAR_054176
    Natural varianti154 – 1541G → D in MLD. 1 Publication
    Corresponds to variant rs74315463 [ dbSNP | Ensembl ].
    VAR_007256
    Natural varianti155 – 1551P → L in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs74315464 [ dbSNP | Ensembl ].
    VAR_054177
    Natural varianti155 – 1551P → R in MLD.
    Corresponds to variant rs74315464 [ dbSNP | Ensembl ].
    VAR_007257
    Natural varianti156 – 1561C → R in MLD; adult type; enzyme activity reduced to 50% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476348 [ dbSNP | Ensembl ].
    VAR_054178
    Natural varianti167 – 1671P → R in MLD.
    Corresponds to variant rs74315465 [ dbSNP | Ensembl ].
    VAR_007258
    Natural varianti169 – 1691D → N in MLD.
    Corresponds to variant rs74315466 [ dbSNP | Ensembl ].
    VAR_007259
    Natural varianti172 – 1721C → Y in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476381 [ dbSNP | Ensembl ].
    VAR_007260
    Natural varianti179 – 1791I → S in MLD; mild. 5 Publications
    Corresponds to variant rs74315457 [ dbSNP | Ensembl ].
    VAR_007261
    Natural varianti181 – 1811L → Q in MLD; infantile form. 1 Publication
    Corresponds to variant rs199476378 [ dbSNP | Ensembl ].
    VAR_054179
    Natural varianti190 – 1901Q → H in MLD; no enzyme residual activity. 1 Publication
    Corresponds to variant rs199476372 [ dbSNP | Ensembl ].
    VAR_054180
    Natural varianti191 – 1911P → T in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476374 [ dbSNP | Ensembl ].
    VAR_054181
    Natural varianti193 – 1931W → C.6 Publications
    Corresponds to variant rs6151415 [ dbSNP | Ensembl ].
    VAR_007262
    Natural varianti201 – 2011Y → C in MLD; juvenile-onset; results in higly reduced enzyme activity and stability; the mutant enzyme is kept in a prelysosomal compartment. 3 Publications
    Corresponds to variant rs199476345 [ dbSNP | Ensembl ].
    VAR_007263
    Natural varianti212 – 2121A → P in MLD; loss of enzymatic activity. 2 Publications
    Corresponds to variant rs199476341 [ dbSNP | Ensembl ].
    VAR_054182
    Natural varianti212 – 2121A → V in MLD. 3 Publications
    Corresponds to variant rs74315467 [ dbSNP | Ensembl ].
    VAR_007264
    Natural varianti217 – 2171R → H in MLD; enzyme activity reduced to 15.6% of wild-type enzyme. 1 Publication
    Corresponds to variant rs148403406 [ dbSNP | Ensembl ].
    VAR_054183
    Natural varianti219 – 2191F → V in MLD; enzyme activity reduced to less than 1% of normal activity. 1 Publication
    Corresponds to variant rs199476383 [ dbSNP | Ensembl ].
    VAR_054184
    Natural varianti224 – 2241A → V in MLD. 1 Publication
    Corresponds to variant rs74315468 [ dbSNP | Ensembl ].
    VAR_007265
    Natural varianti227 – 2271H → Y in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs199476354 [ dbSNP | Ensembl ].
    VAR_054185
    Natural varianti231 – 2311P → T in MLD.
    Corresponds to variant rs74315469 [ dbSNP | Ensembl ].
    VAR_007266
    Natural varianti244 – 2441R → C in MLD; juvenile-onset.
    Corresponds to variant rs74315470 [ dbSNP | Ensembl ].
    VAR_007267
    Natural varianti244 – 2441R → H in MLD; infantile-onset. 1 Publication
    Corresponds to variant rs199476366 [ dbSNP | Ensembl ].
    VAR_007268
    Natural varianti245 – 2451G → R in MLD; severe. 1 Publication
    Corresponds to variant rs74315471 [ dbSNP | Ensembl ].
    VAR_007269
    Natural varianti247 – 2471F → S in MLD. 2 Publications
    Corresponds to variant rs199476384 [ dbSNP | Ensembl ].
    VAR_054186
    Natural varianti250 – 2501S → Y in MLD; infantile-onset. 1 Publication
    Corresponds to variant rs199476367 [ dbSNP | Ensembl ].
    VAR_007270
    Natural varianti253 – 2531E → K in MLD; late-infantile. 2 Publications
    Corresponds to variant rs74315483 [ dbSNP | Ensembl ].
    VAR_054187
    Natural varianti255 – 2551D → 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. 2 Publications
    Corresponds to variant rs80338819 [ dbSNP | Ensembl ].
    VAR_054188
    Natural varianti274 – 2741T → M in MLD; severe; 35% of normal activity. 2 Publications
    Corresponds to variant rs74315472 [ dbSNP | Ensembl ].
    VAR_007271
    Natural varianti281 – 2811D → Y in MLD. 1 Publication
    Corresponds to variant rs199476386 [ dbSNP | Ensembl ].
    VAR_054189
    Natural varianti282 – 2821N → S in MLD; enzyme activity reduced to 0.6% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476342 [ dbSNP | Ensembl ].
    VAR_054190
    Natural varianti286 – 2861T → P in MLD; adult type. 1 Publication
    Corresponds to variant rs28940894 [ dbSNP | Ensembl ].
    VAR_054191
    Natural varianti288 – 2881R → C in MLD. 1 Publication
    Corresponds to variant rs74315473 [ dbSNP | Ensembl ].
    VAR_007272
    Natural varianti288 – 2881R → H in MLD; adult form. 1 Publication
    Corresponds to variant rs199476355 [ dbSNP | Ensembl ].
    VAR_054192
    Natural varianti293 – 2931G → D in MLD; late-onset. 1 Publication
    Corresponds to variant rs199476387 [ dbSNP | Ensembl ].
    VAR_054193
    Natural varianti293 – 2931G → S in MLD; adult type; causes a severe reduction of enzyme activity. 1 Publication
    Corresponds to variant rs199476349 [ dbSNP | Ensembl ].
    VAR_054194
    Natural varianti294 – 2941C → Y in MLD; juvenile-onset; causes a severe reduction of enzyme activity. 1 Publication
    Corresponds to variant rs199476347 [ dbSNP | Ensembl ].
    VAR_054195
    Natural varianti295 – 2951S → Y in MLD; severe. 1 Publication
    Corresponds to variant rs74315474 [ dbSNP | Ensembl ].
    VAR_007273
    Natural varianti298 – 2981L → S in MLD; late-infantile form; complete loss of enzyme activity. 1 Publication
    Corresponds to variant rs199476389 [ dbSNP | Ensembl ].
    VAR_054196
    Natural varianti300 – 3001C → F in MLD; late-infantile-onset; enzyme activity reduced to less than 1%; the mutant protein is more rapidly degraded in lysosomes; strongly interferes with the octamerization process of the enzyme at low pH. 1 Publication
    Corresponds to variant rs74315484 [ dbSNP | Ensembl ].
    VAR_008132
    Natural varianti302 – 3021K → N in MLD; enzyme activity reduced to 2.8% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476343 [ dbSNP | Ensembl ].
    VAR_054197
    Natural varianti304 – 3041T → M in MLD; loss of enzymatic activity. 1 Publication
    Corresponds to variant rs199476359 [ dbSNP | Ensembl ].
    VAR_067416
    Natural varianti306 – 3061Y → H in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476379 [ dbSNP | Ensembl ].
    VAR_054198
    Natural varianti307 – 3071E → K in MLD; loss of enzymatic activity. 1 Publication
    Corresponds to variant rs199476360 [ dbSNP | Ensembl ].
    VAR_067417
    Natural varianti308 – 3081G → D in MLD; late-infantile form. 1 Publication
    Corresponds to variant rs199476356 [ dbSNP | Ensembl ].
    VAR_054199
    Natural varianti308 – 3081G → V in MLD; late-infantile form; no enzyme residual activity. 1 Publication
    Corresponds to variant rs199476356 [ dbSNP | Ensembl ].
    VAR_054200
    Natural varianti309 – 3091G → S in MLD; severe; 13% of normal activity. 2 Publications
    Corresponds to variant rs74315459 [ dbSNP | Ensembl ].
    VAR_007274
    Natural varianti311 – 3111R → Q in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs199476382 [ dbSNP | Ensembl ].
    VAR_007275
    Natural varianti312 – 3121E → D in MLD; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme. 1 Publication
    Corresponds to variant rs199476390 [ dbSNP | Ensembl ].
    VAR_054201
    Natural varianti314 – 3141A → T in MLD; infantile-onset. 1 Publication
    Corresponds to variant rs199476368 [ dbSNP | Ensembl ].
    VAR_007276
    Natural varianti325 – 3251G → S in MLD; juvenile-onset. 1 Publication
    Corresponds to variant rs148092995 [ dbSNP | Ensembl ].
    VAR_054202
    Natural varianti327 – 3271T → I in MLD; late-infantile form. 1 Publication
    VAR_054203
    Natural varianti335 – 3351D → V in MLD; late-infantile-onset; loss of enzymatic activity. 4 Publications
    Corresponds to variant rs74315475 [ dbSNP | Ensembl ].
    VAR_007277
    Natural varianti350 – 3501N → S Associated with arylsulfatase A pseudodeficiency; appears to be responsible for the small size of the enzyme produced by pseudodeficiency fibroblasts because it leads to loss of an N-glycosylation site. 5 Publications
    Corresponds to variant rs2071421 [ dbSNP | Ensembl ].
    VAR_007278
    Natural varianti356 – 3561F → V.1 Publication
    Corresponds to variant rs6151422 [ dbSNP | Ensembl ].
    VAR_018838
    Natural varianti367 – 3671K → N in MLD. 1 Publication
    Corresponds to variant rs199476369 [ dbSNP | Ensembl ].
    VAR_007279
    Natural varianti370 – 3701R → Q in MLD; mild.
    Corresponds to variant rs74315477 [ dbSNP | Ensembl ].
    VAR_007280
    Natural varianti370 – 3701R → W in MLD; severe; no enzyme residual activity. 2 Publications
    Corresponds to variant rs74315476 [ dbSNP | Ensembl ].
    VAR_007281
    Natural varianti376 – 3761Y → N in MLD; enzyme activity reduced to 4.7% of wild-type enzyme. 1 Publication
    Corresponds to variant rs199476344 [ dbSNP | Ensembl ].
    VAR_054204
    Natural varianti377 – 3771P → L in MLD; severe. 1 Publication
    Corresponds to variant rs74315478 [ dbSNP | Ensembl ].
    VAR_007282
    Natural varianti381 – 3811D → E in MLD; early-infantile form.
    Corresponds to variant rs6151425 [ dbSNP | Ensembl ].
    VAR_054205
    Natural varianti382 – 3821E → K in MLD; intermediate. 1 Publication
    Corresponds to variant rs74315479 [ dbSNP | Ensembl ].
    VAR_007283
    Natural varianti384 – 3841R → C in MLD. 1 Publication
    Corresponds to variant rs199476370 [ dbSNP | Ensembl ].
    VAR_007284
    Natural varianti390 – 3901R → Q in MLD; juvenile-onset. 2 Publications
    Corresponds to variant rs199476391 [ dbSNP | Ensembl ].
    VAR_007285
    Natural varianti390 – 3901R → W in MLD; late-infantile and juvenile-onset. 3 Publications
    Corresponds to variant rs74315480 [ dbSNP | Ensembl ].
    VAR_007286
    Natural varianti391 – 3911T → S.10 Publications