M129T (p.Met129Thr) variant of KRT12 (Keratin, type I cytoskeletal 12)
M129T (p.Met129Thr) 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 not provided. The record also includes published literature and structural context.
M129T (p.Met129Thr) variant details
- p.Met129Thr
- rs28936695
- ClinGen CA119163
- ClinVar RCV000008389
- ClinVar RCV000056417
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- 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: Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12)… (PMID 16352477)