Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23381: Variant p.Ala443Ser

Tryptophan--tRNA ligase, cytoplasmic
Gene: WARS1
Feedback?
Variant information Variant position: help 443 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 Alanine (A) to Serine (S) at position 443 (A443S, p.Ala443Ser). 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 small size and hydrophobic (A) 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

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


Sequence information Variant position: help 443 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 471 The length of the canonical sequence.
Location on the sequence: help GAMLTGELKKALIEVLQPLI A EHQARRKEVTDEIVKEFMTP 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.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         GAMLTGELKKALIEVLQPLIAEHQARRKEVTDEIVKEFMT-P

Mouse                         GAMLTGELKKTLIDVLQPLIAEHQARRKAVTEETVKEFMT-

Rat                           GAMLTGELKKTLIDVLQPLIAEHQARRKAVTEETVKEFMA-

Bovine                        GAMLTGELKKELIEVLQPLIAEHQARRKEVTDEIVKEFMT-

Rabbit                        GAMLTGELKKELIDVLQPLVAEHQARRKEVTDEMVKEFMT-

Zebrafish                     GAMLTGELKKSLIDTLQPIIAEHQEKRKHVTDDIVQQFMT-

Slime mold                    GKMMTGEIKQILIDLMNKIIIRHKEARAKITDEVLSTFMS-

Baker's yeast                 GELLSGEMKKLCIETLQEFVKAFQERRAQVDEETLDKFMV-

Fission yeast                 GTLSTGEMKGECIKLLQQFVSDFQAARSKVDEATLDMFMDG

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 2 – 471 Tryptophan--tRNA ligase, cytoplasmic
Chain 71 – 471 T1-TrpRS
Chain 94 – 471 T2-TrpRS
Helix 430 – 450



Literature citations
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Tsai P.C.; Soong B.W.; Mademan I.; Huang Y.H.; Liu C.R.; Hsiao C.T.; Wu H.T.; Liu T.T.; Liu Y.T.; Tseng Y.T.; Lin K.P.; Yang U.C.; Chung K.W.; Choi B.O.; Nicholson G.A.; Kennerson M.L.; Chan C.C.; De Jonghe P.; Cheng T.H.; Liao Y.C.; Zuechner S.; Baets J.; Lee Y.C.;
Brain 140:1252-1266(2017)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBUNIT; INVOLVEMENT IN HMND9; VARIANT HMND9 ARG-257; VARIANT SER-443; CHARACTERIZATION OF VARIANT HMND9 ARG-257;
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.