SHMT2 (P34897) variants and mutations

SHMT2 (also known as P34897) is a human protein-coding gene encoding a serine hydroxymethyltransferase, mitochondrial protein. It transfers one-carbon units from serine into the mitochondrial folate cycle while generating glycine, supporting nucleotide synthesis, redox balance, and mitochondrial translation. Altered activity is important in proliferating and metabolically stressed cells, including many cancers. This analysis covers 702 SHMT2 variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormali, microcephaly, and polymicrogyria. Example SHMT2 variants include L2L, Y3C, and Y3T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SHMT2 variants

Examples include L2L, Y3C, Y3T, Y3Y, F4L, S5T, S5F, S5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.