rs149481147
This is a variant in the SARDH gene that changes a proline to an leucine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemiaCase reportN=24Ifat Bar-joseph et al.(2012)· Human Genetics
Candidate gene sequencing identified four novel mutations in SARDH (sarcosine dehydrogenase) in patients with sarcosinemia across six families: two missense mutations (V71F, P287L) and two nonsense mutations (R723X, R514X). One additional patient showed maternal uniparental disomy (UPD) on chromosome 9. These findings establish SARDH mutations as a genetic cause of sarcosinemia, though genetic heterogeneity is suggested by two families with no SARDH mutations.
About SARDH
This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]
View all SARDH variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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