D46E (p.Asp46Glu) variant of GJB2 (Gap junction beta-2 protein)
D46E (p.Asp46Glu) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DFNA3A. The record also includes published literature and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- UniProt VAR 060798
- Pathogenic
- in DFNA3A
- Missense
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Structural context available
- Cited in: Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. (PMID 19384972)
- Cited in: A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. (PMID 10807696)