T55I (p.Thr55Ile) variant of GJB1 (Gap junction beta-1 protein)
T55I (p.Thr55Ile) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMTX1. The record also includes published literature and structural context.
T55I (p.Thr55Ile) variant details
- p.Thr55Ile
- rs104894824
- ClinGen CA340973
- ClinVar RCV000011191
- ClinVar RCV000486043
- Pathogenic
- in CMTX1
- Missense
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients… (PMID 10220155)
- Cited in: Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. (PMID 11723288)