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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.