R135T (p.Arg135Thr) variant of KRT12 (Keratin, type I cytoskeletal 12)
R135T (p.Arg135Thr) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Corneal dystrophy, Meesmann, 1. The record also includes published literature and structural context.
R135T (p.Arg135Thr) variant details
- p.Arg135Thr
- rs57218384
- ClinGen CA119157
- ClinVar RCV000008383
- ClinVar RCV000056421
- Pathogenic
- Corneal dystrophy, Meesmann, 1
- Missense
- ClinVar: Pathogenic (Corneal dystrophy, Meesmann, 1)
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Structural context available
- Cited in: Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete… (PMID 10644419)
- Cited in: Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. (PMID 9171831)