K134N (p.Lys134Asn) variant of GJA1 (Gap junction alpha-1 protein)
K134N (p.Lys134Asn) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oculodentodigital dysplasia, autosomal recessive. The record also includes published literature and structural context.
K134N (p.Lys134Asn) variant details
- p.Lys134Asn
- rs2536821783
- ClinGen CA365558929
- ClinVar RCV002843052
- UniProt VAR 038360
- Likely pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- 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)