Y54C (p.Tyr54Cys) variant of SH2D1A (SH2 domain-containing protein 1A)
Y54C (p.Tyr54Cys) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLP1. The record also includes published literature and structural context.
Y54C (p.Tyr54Cys) variant details
- p.Tyr54Cys
- UniProt VAR 048015
- Pathogenic
- in XLP1
- Missense
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in… (PMID 11049992)
- Cited in: Disease-causing SAP mutants are defective in ligand binding and protein folding. (PMID 14674764)