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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13797: Variant p.Trp499Cys

Plastin-3
Gene: PLS3
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Variant information Variant position: help 499 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 Tryptophan (W) to Cysteine (C) at position 499 (W499C, p.Trp499Cys). 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 aromatic (W) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In DIH5; likely pathogenic; the orthologous mutation in mice results in death within the first 2 days after birth; the animals display several phenotypes at late gestation and neonatal time points, including diaphragm abnormalities and anterior body-wall defects. Any additional useful information about the variant.


Sequence information Variant position: help 499 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 630 The length of the canonical sequence.
Location on the sequence: help VGIGGQDLNDGNQTLTLALV W QLMRRYTLNVLEDLGDGQKA 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                         VGIGGQDLNDGNQTLTLALVWQLMRRYTLNVLEDLGDGQKA

Mouse                         VGIGGQDLNDGNPTLTLAVVWQLMRRYTLNVLEDLGEGQKA

Rat                           VGIGGQDLNDGNPTLTLAVVWQLMRRYTLNVMEDLGEGQKA

Bovine                        VGIGGQDLNDGNQTLTLALVWQLMRRYTLNVLEDLGDGQKA

Zebrafish                     VGIGGQDLNDGNPTLTLALVWQLMRRYTLNVLENLGDGQKV
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 1 – 630 Plastin-3
Domain 397 – 506 Calponin-homology (CH) 3
Region 383 – 627 Actin-binding 2
Helix 491 – 512



Literature citations
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F.; Longoni M.; Wells J.; Maser R.S.; Bogenschutz E.L.; Dysart M.J.; Contreras H.T.M.; Frenois F.; Pober B.R.; Clark R.D.; Giampietro P.F.; Ropers H.H.; Hu H.; Loscertales M.; Wagner R.; Ai X.; Brand H.; Jourdain A.S.; Delrue M.A.; Gilbert-Dussardier B.; Devisme L.; Keren B.; McCulley D.J.; Qiao L.; Hernan R.; Wynn J.; Scott T.M.; Calame D.G.; Coban-Akdemir Z.; Hernandez P.; Hernandez-Garcia A.; Yonath H.; Lupski J.R.; Shen Y.; Chung W.K.; Scott D.A.; Bult C.J.; Donahoe P.K.; High F.A.;
Am. J. Hum. Genet. 110:1787-1803(2023)
Cited for: INVOLVEMENT IN DIH5; VARIANTS DIH5 PHE-120; VAL-206; VAL-235; LYS-270; LEU-352; GLU-364; CYS-499 AND VAL-592;
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.