D429G (p.Asp429Gly) variant of EYA1 (Protein phosphatase EYA1)
D429G (p.Asp429Gly) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Branchiootic syndrome 1. The record also includes published literature and structural context.
D429G (p.Asp429Gly) variant details
- p.Asp429Gly
- UniProt VAR 016866
- Likely pathogenic
- Branchiootic syndrome 1
- Missense
- ClinVar: Likely pathogenic (Branchiootic syndrome 1)
- EBI: Pathogenic (in BOR1)
- UniProt: Pathogenic (in BOR1)
- Structural context available
- Cited in: Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. (PMID 11558900)
- Cited in: Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and… (PMID 10464653)