Q49K (p.Gln49Lys) variant of GJA1 (Gap junction alpha-1 protein)
Q49K (p.Gln49Lys) 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.
Q49K (p.Gln49Lys) variant details
- p.Gln49Lys
- UniProt VAR 015753
- Pathogenic
- in ODDD
- Missense
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (PMID 12457340)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)