M102K (p.Met102Lys) variant of GCH1 (GTP cyclohydrolase 1)
M102K (p.Met102Lys) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DRD. The record also includes published literature and structural context.
M102K (p.Met102Lys) variant details
- p.Met102Lys
- UniProt VAR 002637
- Pathogenic
- in DRD
- Missense
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Structural context available
- Cited in: Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of… (PMID 10582612)
- Cited in: A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia. (PMID 10076897)