G26R (p.Gly26Arg) variant of BEST1 (Bestrophin-1)
G26R (p.Gly26Arg) 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.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- UniProt VAR 017368
- Pathogenic
- in VMD2
- Missense
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Structural context available
- Cited in: Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). (PMID 14517959)
- Cited in: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. (PMID 10331951)