I1186T (p.Ile1186Thr) variant of CACNA1C (Q13936)
I1186T (p.Ile1186Thr) in CACNA1C (Q13936) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Timothy syndrome; Cardiovascular phenotype. The record also includes published literature.
I1186T (p.Ile1186Thr) variant details
- p.Ile1186Thr
- UniProt VAR 072381
- Pathogenic
- Inborn genetic diseases; Timothy syndrome; Cardiovascular phenotype
- Missense
- ClinVar: Pathogenic (Inborn genetic diseases; Timothy syndrome; Cardiovascular phenot)
- EBI: Pathogenic (in TS and LQT8)
- UniProt: Pathogenic (in TS and LQT8)
- Cited in: Novel Timothy syndrome mutation leading to increase in CACNA1C window current. (PMID 25260352)
- Cited in: Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. (PMID 25633834)