N117T (p.Asn117Thr) variant of ACTA2 (Actin, aortic smooth muscle)
N117T (p.Asn117Thr) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes published literature and structural context.
N117T (p.Asn117Thr) variant details
- p.Asn117Thr
- UniProt VAR 045915
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in AAT6)
- UniProt: Pathogenic (in AAT6)
- Structural context available
- Cited in: Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. (PMID 17994018)
- Cited in: Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with… (PMID 19409525)