UniProtKB/Swiss-Prot P15289: Variant p.Trp193Cys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: From Tryptophan (W) to Cysteine (C) at position 193 (W193C, p.Trp193Cys). 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 large size and aromatic (W) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2 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
Other resources: Links to websites of interest for the variant.

• Variant rs6151415 [ dbSNP | Ensembl ]

Sequence information

Variant position: 193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 507 The length of the canonical sequence.
Location on the sequence: DQGLVPIPLLANLSVEAQPP W LPGLEARYMAFAHDLMADAQ 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.

Type	Positions	Description
Chain	19 – 507	Arylsulfatase A
Chain	19 – 444	Arylsulfatase A component B
Glycosylation	184 – 184	N-linked (GlcNAc...) asparagine

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; Molecular basis of different forms of metachromatic leukodystrophy.
Polten A.; Fluharty A.L.; Fluharty C.B.; Kappler J.; von Figura K.; Gieselmann V.;
N. Engl. J. Med. 324:18-22(1991)
Cited for: VARIANT MLD LEU-426; VARIANTS CYS-193 AND SER-391; Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
Berger J.; Gmach M.; Mayr U.; Molzer B.; Bernheimer H.;
Hum. Mutat. 13:61-68(1999)
Cited for: VARIANTS PRO-76; CYS-193; SER-391 AND VAL-464; 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; Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
Comabella M.; Waye J.S.; Raguer N.; Eng B.; Dominguez C.; Navarro C.; Borras C.; Krivit W.; Montalban X.;
Ann. Neurol. 50:108-112(2001)
Cited for: VARIANT MLD ILE-408; VARIANTS CYS-193 AND SER-391; Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
Berna L.; Gieselmann V.; Poupetova H.; Hrebicek M.; Elleder M.; Ledvinova J.;
Am. J. Med. Genet. A 129:277-281(2004)
Cited for: VARIANTS MLD ASN-29; ARG-156; SER-179; SER-293; TYR-294; SER-309 AND LEU-426; VARIANTS CYS-193 AND SER-391; CHARACTERIZATION OF VARIANTS MLD ASN-29; ARG-156; SER-293 AND TYR-294;