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Article

V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.

The Journal of biological chemistry - 1 Mar 2002

Pind Steven, Slominski Elzbieta, Mauthe Jill, Pearlman Kayla, Swoboda Kathryn J, Wilkins John A, Sauder Patricia, Natowicz Marvin R

Abstract excerpt

A deficiency of 3-phosphoglycerate dehydrogenase (PHGDH) is a disorder of serine biosynthesis identified in children with congenital microcephaly, seizures, and severe psychomotor retardation. We report here the identification of the 1468G-->A (V490M) mutation of this gene in two siblings of an Ashkenazi Jewish family, providing further evidence that the V490M mutation is a common, panethnic cause of this...

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Identifiers

PMID: 11751922
DOI: 10.1074/jbc.M111419200

Genes

PHGDH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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