rs758430398
This is a variant in the GALT gene that changes a arginine to an histidine.
▶ClinVar annotation
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶ReviewUnknown
Comprehensive mutation update on classical galactosemia caused by GALT gene deficiency. Documents 150+ different mutations across 24 populations and 15 countries, with Q188R being most common in European populations (60-70% of mutant chromosomes), K285N accounting for 25-40% in east/central Europe, and S135L prevalent in African Americans (50%). The Duarte variants (N314D) show phenotypic heterogeneity with in vitro expression analysis revealing variable enzyme activity impacts.
About GALT
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
View all GALT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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