Variant position: 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 502 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TLLQDHENQRLFEMLGRKCL TLATAVVQLYLALPPGAEHWT
Mouse NLLQDHENQRLFELLGRKCW TLATTVVQLYLALPPGAEHWT
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
2 – 502 Wiskott-Aldrich syndrome protein
39 – 148 WH1
Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.
Kwan S.-P.; Hagemann T.L.; Radtke B.E.; Blaese R.M.; Rosen F.S.;
Proc. Natl. Acad. Sci. U.S.A. 92:4706-4710(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS WAS TRP-43; MET-45; LEU-58; LYS-133 AND THR-134;
Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients.
Remold-O'Donnell E.; Cooley J.; Shcherbina A.; Hagemann T.L.; Kwan S.-P.; Kenney D.M.; Rosen F.S.;
J. Immunol. 158:4021-4025(1997)
Cited for: VARIANTS WAS TRP-43; MET-45; MET-75 AND CYS-86;
Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods.
Ariga T.; Yamada M.; Sakiyama Y.;
Pediatr. Res. 41:535-540(1997)
Cited for: VARIANTS WAS LYS-31 AND MET-45;
Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
Ho L.L.; Ayling J.; Prosser I.; Kronenberg H.; Iland H.; Joshua D.;
Br. J. Haematol. 112:76-80(2001)
Cited for: VARIANT THC1 MET-45;
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