Variant position: 75 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 LALPPGAEHWTKEHCGAVCF VKDNPQKSYFIRLYGLQAGRL
Mouse LALPPGAEHWTMEHCGAVCF VKDNPQKSYFIRLYGLQAGRL
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 WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
Kolluri R.; Shehabeldin A.; Peacocke M.; Lamhonwah A.-M.; Teichert-Kuliszewska K.; Weissman S.M.; Siminovitch K.A.;
Hum. Mol. Genet. 4:1119-1126(1995)
Cited for: VARIANTS WAS HIS-30 DEL; LYS-31; MET-75; PRO-82; CYS-86; HIS-86; CYS-97; LYS-133 AND GLU-476;
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
Derry J.M.J.; Kerns J.A.; Weinberg K.I.; Ochs H.D.; Volpini V.; Estivill X.; Walker A.P.; Francke U.;
Hum. Mol. Genet. 4:1127-1135(1995)
Cited for: VARIANTS THC1 PHE-27; ILE-48 AND LYS-477; VARIANTS WAS MET-75; LEU-86; HIS-86; LYS-131 AND CYS-187;
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;
Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.
MacCarthy-Morrogh L.; Gaspar H.B.; Wang Y.-C.; Katz F.; Thompson L.; Layton M.; Jones A.M.; Kinnon C.;
Clin. Immunol. Immunopathol. 88:22-27(1998)
Cited for: VARIANTS WAS MET-75; LEU-84; ASP-89 AND LYS-133;
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
Lemahieu V.; Gastier J.M.; Francke U.;
Hum. Mutat. 14:54-66(1999)
Cited for: VARIANTS WAS ARG-73; CYS-86 AND LYS-133; VARIANTS THC1 MET-75 AND CYS-83;
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.