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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42768: Variant p.Arg86His

Actin nucleation-promoting factor WAS
Gene: WAS
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Variant information Variant position: help 86
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Histidine (H) at position 86 (R86H, p.Arg86His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Variant description: help In WAS.
Other resources: help


Sequence information Variant position: help 86
Protein sequence length: help 502
Location on the sequence: help KEHCGAVCFVKDNPQKSYFI R LYGLQAGRLLWEQELYSQLV
Residue conservation: help 
Human                         KEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLV

Mouse                         MEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 502 Actin nucleation-promoting factor WAS
Domain 39 – 148 WH1



Literature citations
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; Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
Schindelhauer D.; Weiss M.; Hellebrand H.; Golla A.; Hergersberg M.; Seger R.; Belohradsky B.H.; Meindl A.;
Hum. Genet. 98:68-76(1996)
Cited for: VARIANT WAS HIS-86;
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.