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Table 2 Predicted effects of five novel variations (four exonic and one intronic variations) in 13 Korean patients with decreased GALT activity

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

Location Sequence variation Amino acid change Predicted effect GALT activity in patients*(μmol/hr/g Hb)
PolyPhen-2 SIFT Splicing effect Affected motif
Overall stability Score
Exon 3 c.302C > A p.Ala101Asp Probably damaging 0.998 Not tolerated Activation of a cryptic splice site Enhancer motif 6.2
Exon 5 c.493 T > C p.Tyr165His Benign 0.440 Tolerated Activation of a cryptic splice site Enhancer motif 6.3
Exon 8 c.769C > A p.Pro257Thr Probably damaging 0.998 Not tolerated No effect No effect 11.6
Exon 9 c.826_827delinsAA p.Ala276Asn Probably damaging 0.995 Not tolerated No effect No effect 5.9
IVS4 c.378-1G > C NA NA NA NA Activation of a cryptic splice site Enhancer motif <0.1
Disruption of a natural motif Silencer motif
  1. NA not applicable or not analyzed.
  2. *The reference range of GALT enzyme activity was 20–35 μmol/h/g Hb for normal healthy individuals and the limit of quantitation was 0.1 μmol/h/g Hb.