R57L (p.Arg57Leu) variant of TAFAZZIN (Q16635)
R57L (p.Arg57Leu) in TAFAZZIN (Q16635) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BTHS. The record also includes published literature and structural context.
R57L (p.Arg57Leu) variant details
- p.Arg57Leu
- UniProt VAR 084500
- Pathogenic
- in BTHS
- Missense
- EBI: Pathogenic (in BTHS)
- UniProt: Pathogenic (in BTHS)
- Structural context available
- Cited in: Defining functional classes of Barth syndrome mutation in humans. (PMID 26908608)
- Cited in: Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. (PMID 11238270)