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 |