S49Y (p.Ser49Tyr) variant of GJB1 (Gap junction beta-1 protein)
S49Y (p.Ser49Tyr) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
S49Y (p.Ser49Tyr) variant details
- p.Ser49Tyr
- rs1602348838
- ClinGen CA413501127
- ClinVar RCV000789957
- Ensembl rs1602348838
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. (PMID 8628473)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)