L387M (p.Leu387Met) variant of TH (Tyrosine 3-monooxygenase)
L387M (p.Leu387Met) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ARSEGS. The record also includes published literature and structural context.
L387M (p.Leu387Met) variant details
- p.Leu387Met
- UniProt VAR 072878
- Pathogenic
- in ARSEGS
- Missense
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Structural context available
- Cited in: Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. (PMID 17696123)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)