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Table 3 Genetic spectrum and allele frequency of likely pathogenic GALT variations in 34 Korean GALT-deficient galactosemia patients

From: Novel GALTvariations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity

Location Nucleotide change Amino acid change Allele number Previously reported in Koreans
Missense mutation
Exon 2 c.92A > G p.His31Arg 1 Ko et al. [14]
Exon 3 c.302C > A p.Ala101Asp 1 This study, novel
Exon 4 c.346C > A p.Leu116Ile 2 Ko et al. [14], this study
Exon 5 c.493 T > C p.Tyr165His 1 This study, novel
Exon 5 c.507G > C p.Gln169His 5 Ko et al. [14], Lee et al. [15]
Exon 6 c.557A > C p.His186Pro 3 Ko et al. [14]
Exon 7 c.602G > A p.Arg201His 2 Ko et al. [14], this study
Exon 8 c.769C > A p.Pro257Thr 1 This study, novel
Exon 10 c.940A > G p.Asn314Asp* 18 Ko et al. [14], this study
Exon 10 c.998G > A p.Arg333Gln 3 This study
Exon 11 c.1087G > A p.Glu363Lys 2 Lee et al. [15], this study
Small deletion/insertion leading to frameshift
Exon 3 c.286_299delGACAACGACTTCCC p.Asp96Serfs*5 2 This study, novel
Small deletion/insertion (in-frame)
Exon 9 c.826_827delinsAA p.Ala276Asn 1 This study, novel
Silent exonic variation
Exon 10 c.999G > A p.Arg333= 1 Ko et al. [14]
Splicing aberration
IVS 2 c.252 + 1G > A Exon 2 deletion 3 Lee et al. [15]
IVS 6 c.565-2A > G Exon 7 deletion 1 Ko et al. [14]
IVS 8 c.821-7A > G Exon 9 deletion 3 Ko et al. [14], this study
Predicted to cause splicing aberration
IVS 4 c.378-1G > C p.? 1 This study, novel
Considered as a rare polymorphism
IVS 1 c.82 + 20_82 + 60del p.? 1 This study, novel
  1. *Duarte variant.
  2. Although this variation has not been previously reported in Koreans, it is a known pathogenic mutation identified in the Japanese population and reported by Hirokawa et al. [6].
  3. This variation was found in a patient who was compound heterozygous for c.286_299delGACAACGACTTCCC and c.378-1G > C.