Q130P (p.Gln130Pro) variant of KRT12 (Keratin, type I cytoskeletal 12)
Q130P (p.Gln130Pro) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available record places it in the context of not provided. The record also includes published literature and structural context.
Q130P (p.Gln130Pro) variant details
- p.Gln130Pro
- rs58864803
- ClinGen CA216512
- ClinVar RCV000056418
- UniProt VAR 013127
- not provided
- Missense
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Structural context available
- Cited in: A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. (PMID 10781519)
- Cited in: A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (PMID 10612503)