C43W (p.Cys43Trp) variant of WAS (P42768)
C43W (p.Cys43Trp) in WAS (P42768) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in WAS. The record also includes published literature and structural context.
C43W (p.Cys43Trp) variant details
- p.Cys43Trp
- UniProt VAR 008105
- Pathogenic
- in WAS
- Missense
- EBI: Pathogenic (in WAS)
- UniProt: Pathogenic (in WAS)
- Structural context available
- Cited in: Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide… (PMID 7753869)
- Cited in: Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. (PMID 9126958)