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UniProtKB/Swiss-Prot P15289: Variant p.Asp335Val

Arylsulfatase A
Gene: ARSA
Variant information

Variant position:  335
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Aspartate (D) to Valine (V) at position 335 (D335V, p.Asp335Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and acidic (D) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In MLD; late-infantile-onset; loss of enzymatic activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  335
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  507
The length of the canonical sequence.

The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

Chain 19 – 507 Arylsulfatase A
Chain 19 – 444 Arylsulfatase A component B
Glycosylation 350 – 350 N-linked (GlcNAc...) asparagine
Disulfide bond 300 – 414
Helix 333 – 335

Literature citations

Identification of seven novel mutations associated with metachromatic leukodystrophy.
Barth M.L.; Fensom A.; Harris A.;
Hum. Mutat. 6:170-176(1995)
Cited for: VARIANTS MLD LEU-82; TYR-172; CYS-201; GLN-311; VAL-335 AND TRP-390;

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
Hess B.; Kafert S.; Heinisch U.; Wenger D.A.; Zlotogora J.; Gieselmann V.;
Hum. Mutat. 7:311-317(1996)

Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
Qu Y.; Shapira E.; Desnick R.J.;
Mol. Genet. Metab. 67:206-212(1999)
Cited for: VARIANTS MLD LEU-148; THR-191; VAL-335; TYR-397 AND LEU-426;

Identification of nine novel arylsulfatase A (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
Eng B.; Nakamura L.N.; O'Reilly N.; Schokman N.; Nowaczyk M.M.J.; Krivit W.; Waye J.S.;
Hum. Mutat. 22:418-419(2003)
Cited for: VARIANTS MLD LEU-155; GLN-181; VAL-212; HIS-306; SER-325; VAL-335; LEU-426 AND SER-429;

Molecular bases of metachromatic leukodystrophy in Polish patients.
Lugowska A.; Ploski R.; Wlodarski P.; Tylki-Szymanska A.;
J. Hum. Genet. 55:394-396(2010)
Cited for: VARIANTS MLD SER-179; SER-247; CYS-288; VAL-335; LYS-382; GLN-390; TRP-390; TYR-397 AND LEU-426;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.