A137P (p.Ala137Pro) variant of KRT12 (Keratin, type I cytoskeletal 12)
A137P (p.Ala137Pro) 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.
A137P (p.Ala137Pro) variant details
- p.Ala137Pro
- rs58038639
- Ensembl rs58038639
- ClinGen CA216516
- ClinVar RCV000056424
- not provided
- Missense
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Structural context available
- Cited in: Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. (PMID 12543196)
- Cited in: A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (PMID 10612503)