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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15289: Variant p.Asn350Ser

Arylsulfatase A
Gene: ARSA
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Variant information Variant position: help 350 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Asparagine (N) to Serine (S) at position 350 (N350S, p.Asn350Ser). 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: help Change from medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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: help Often found in association with a nucleotide substitution in the polyadenylation signal downstream of the stop codon; this association defines an ARSA pseudodeficiency allele found in individuals with low enzymatic activities but no clinical manifestations; no effect on activity; no effect on protein abundance; loss of N-glycosylation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 350 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 507 The length of the canonical sequence.
Location on the sequence: help LASSLDLLPTLAALAGAPLP N VTLDGFDLSPLLLGTGKSPR 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: help 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.
TypePositionsDescription
Chain 19 – 507 Arylsulfatase A
Chain 19 – 444 Arylsulfatase A component B
Glycosylation 350 – 350 N-linked (GlcNAc...) asparagine
Disulfide bond 300 – 414



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-82; CYS-193; SER-350; VAL-356; SER-391; SER-440 AND HIS-496; Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
Gieselmann V.; Polten A.; Kreysing J.; von Figura K.;
Proc. Natl. Acad. Sci. U.S.A. 86:9436-9440(1989)
Cited for: INVOLVEMENT IN MLD; VARIANT SER-350; CHARACTERIZATION OF VARIANT SER-350; Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
Gort L.; Coll M.J.; Chabas A.;
Hum. Mutat. 14:240-248(1999)
Cited for: VARIANTS MLD SER-32; PRO-68; TRP-84; ALA-94; VAL-99; SER-136; VAL-212; TYR-227; HIS-255; HIS-288; ASP-308; ILE-327 AND LEU-377; VARIANTS CYS-193; SER-350 AND SER-391; Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
Regis S.; Corsolini F.; Stroppiano M.; Cusano R.; Filocamo M.;
Hum. Genet. 110:351-355(2002)
Cited for: VARIANT MLD LYS-253; CHARACTERIZATION OF VARIANT MLD LYS-253; CHARACTERIZATION OF VARIANTS SER-350; SER-391 AND LEU-426; Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.
Gallo S.; Randi D.; Bertelli M.; Salviati A.; Pandolfo M.;
J. Neurol. Neurosurg. Psych. 75:655-657(2004)
Cited for: VARIANTS MLD ASP-293 AND GLY-489; VARIANT SER-350;
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.