I3T (p.Ile3Thr) variant of BEST1 (Bestrophin-1)
I3T (p.Ile3Thr) in BEST1 (Bestrophin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in VMD2. The record also includes published literature and structural context.
I3T (p.Ile3Thr) variant details
- p.Ile3Thr
- UniProt VAR 058273
- Pathogenic
- in VMD2
- Missense
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Clinical and molecular genetic analysis of best vitelliform macular dystrophy. (PMID 19357557)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)