W339G (p.Trp339Gly) variant of MTHFR (P42898)
W339G (p.Trp339Gly) in MTHFR (P42898) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Homocystinuria due to methylene tetrahydrofolate reductase deficiency. The record also includes published literature and structural context.
W339G (p.Trp339Gly) variant details
- p.Trp339Gly
- rs267606886
- ClinGen CA278057
- ClinVar RCV001851626
- UniProt VAR 009533
- Pathogenic/Likely pathogenic
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria due to methylene tetrahydrofolate reductase defic)
- EBI: Pathogenic (in MTHFRD)
- UniProt: Pathogenic (in MTHFRD)
- Structural context available
- Cited in: Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic… (PMID 25736335)
- Cited in: Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. (PMID 9781030)