Table 6.

Notable GALE Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_000403​.4
NP_000394​.2 		c.151C>Tp.Arg51TrpSegregated w/thrombocytopenia in a consanguineous family [Seo et al 2019]; see Genetically Related Disorders.
c.280G>Ap.Val94MetIdentified in homozygous state in persons w/severe, generalized form of epimerase deficiency galactosemia [Wohlers et al 1999, Dias Costa et al 2017]
c.505C>Tp.Arg169TrpAccount for 67% of alleles reported in a cohort of asymptomatic Koreans w/peripheral epimerase deficiency galactosemia [Park et al 2005]
c.715C>Tp.Arg239Trp
c.905G>Ap.Gly302Asp
c.770A>Gp.Lys257ArgAssoc w/asymptomatic peripheral epimerase deficiency galactosemia in African Americans [Alano et al 1997, Openo et al 2006]
c.956G>Ap.Gly319Glu

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: Epimerase Deficiency Galactosemia

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