M34T (p.Met34Thr) variant of GJB1 (Gap junction beta-1 protein)
M34T (p.Met34Thr) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GJB1-related disorder; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
M34T (p.Met34Thr) variant details
- p.Met34Thr
- rs1060500998
- ClinGen CA16616534
- ClinVar RCV000467465
- ClinVar RCV000789955
- Pathogenic
- GJB1-related disorder; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Pathogenic (GJB1-related disorder; Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth… (PMID 11571214)
- Cited in: Diverse trafficking abnormalities of connexin32 mutants causing CMTX. (PMID 12460545)