S69Y (p.Ser69Tyr) variant of GJA1 (Gap junction alpha-1 protein)
S69Y (p.Ser69Tyr) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ODDD. The record also includes published literature and structural context.
S69Y (p.Ser69Tyr) variant details
- p.Ser69Tyr
- UniProt VAR 038358
- Pathogenic
- in ODDD
- Missense
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. (PMID 14729836)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)