Table III.
Functional analysis of the variants identified in the ABCC2 gene.
| Location | Base change | Amino acid change | Variation types | Patient frequency | Allele frequency (Asian) | Allele frequency (total) | Polyphen-2 prediction | SIFT prediction | HGMD gene result |
|---|---|---|---|---|---|---|---|---|---|
| Exon 9 | c.1290C>T | p.R393W | Missense | 2/7 | 1.817×10−4 | 3.295×10−5 | Probably damaging | Deleterious | Known disease mutation |
| Exon 10 | c.1362G>A | p.V417I | Missense | 1/7 | 2.785×10−1 | 1.953×10−1 | Benign | Tolerated | rs2273697 |
| Exon 15 | c.2052G>T | p.E647X | Nonsense | 2/7 | 6.061×10−5 | 8.248×10−6 | NA | NA | NA |
| Exon 16 | c.2190G>A | p.G693R | Missense | 2/7 | 2.442×10−4 | 4.139×10−5 | Probably damaging | Deleterious | NA |
| Exon 18 | c.2536G>T | p.G808V | Missense | 1/7 | NA | NA | NA | NA | NA |
| Exon 27 | c.3938C>G | p.Y1275X | Nonsense | 1/7 | 4.594×10−4 | 6.59×10−5 | NA | NA | Known disease mutation |
ABCC2, adenosine triphosphate-binding cassette subfamily C member 2.