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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51690: Variant p.Arg12Ser

Arylsulfatase L
Gene: ARSL
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Variant information Variant position: help 12 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Arginine (R) to Serine (S) at position 12 (R12S, p.Arg12Ser). 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 large size and basic (R) 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 In CDPX1; no effect on arylsulfatase activity, protein stability and localization to the Golgi apparatus. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 12 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 589 The length of the canonical sequence.
Location on the sequence: help MLHLHHSCLCF R SWLPAMLAVLLSLAPSASSD 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
Signal peptide 1 – 31



Literature citations
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
Franco B.; Meroni G.; Parenti G.; Levilliers J.; Bernard L.; Gebbia M.; Cox L.; Maroteaux P.; Sheffield L.; Rappold G.A.; Andria G.; Petit C.; Ballabio A.;
Cell 81:15-25(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS CDPX1 SER-12; PRO-111; ARG-117; VAL-137 AND ARG-245; FUNCTION; CATALYTIC ACTIVITY; ACTIVITY REGULATION; BIOPHYSICOCHEMICAL PROPERTIES; TISSUE SPECIFICITY; Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
Daniele A.; Parenti G.; D'Addio M.; Andria G.; Ballabio A.; Meroni G.;
Am. J. Hum. Genet. 62:562-572(1998)
Cited for: CHARACTERIZATION OF VARIANTS CDPX1 SER-12; PRO-111; VAL-137; ARG-245 AND TYR-492; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
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.