Table 10.

Notable GALT Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment
NM_000155​.2
NP_000146​.2 		c.404C>Tp.Ser135LeuMost common clinical pathogenic variant in African Americans & South Africans
c.563A>Gp.Gln188ArgMost common severe classic pathogenic variant
c.584T>Cp.Leu195ProSevere classic pathogenic variant
c.626A>Gp.Tyr209CysSevere classic pathogenic variant
c.855G>Tp.Lys285AsnMost severe classic pathogenic variant in eastern Europe
c.[940A>G;-119_116delGTCA] 1p.Asn314Asp; effect on promoter variantDuarte D2: most common biochemical pathogenic variant w/effect on promoter function
c.[940A>G;652C>T]p.[Leu218Leu;Asn314Asp]Duarte D1: rare biochemical (LA) variant w/↑ GALT enzyme activity
(Δ5.2kb) or (5.2kbdel) 2, 3--Severe classic pathogenic variant

Variants listed in the table have been provided by the author. 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.

1.

The Duarte D2 variant allele with two variants in cis configuration

2.

A complex deletion that involves a 3,163-bp deletion of the GALT promoter and a 5' gene region along with a 2,295-bp deletion at the 3' end of the gene; only segments of exon 8 and intron 8 are retained [Barbouth et al 2006, Coffee et al 2006]. Standard HGVS nomenclature of this deletion is equally complex.

3.

Seen in persons of Ashkenazi Jewish ethnicity

From: Classic Galactosemia and Clinical Variant Galactosemia

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