Table 2.
Characteristics of IPO8 variants identified by next-generation sequencing in affected individuals
| Individual | Chromosome position (Hg19-GRCh37) chr12 | cDNA change (GenBank: NM_006390.3) | Amino acid change | SIFT | PolyPhen | DANN | CADD | Mutation Taster | Allele frequency gnomAD |
|---|---|---|---|---|---|---|---|---|---|
| 1–2 | g.30837296C>T | c.262G>A | p.Asp88Asn | damaging | probably damaging | 0.9989 | 25.3 | disease causing | not observed |
| 3–4 | g.30792531G>A | c.2407C>T | p.Arg803∗ | N/A | N/A | 0.9979 | 36 | disease causing | 3.98E−6, no homozygotes |
| 5–6 | g.30848500G>A | c.82C>T | p.Gln28∗ | N/A | N/A | 0.9984 | 39 | disease causing | not observed |
| 7 | g.30789909_30789913del | c.2695+3_2695+7delAAAGT | N/A | N/A | N/A | N/A | 22.8 | disease causing | not observed |
| 8 | g.30816479del | c.1538delC | p.Pro513Leufs∗13 | N/A | N/A | N/A | 33 | disease causing | not observed |
| g.30802094A>G | c.2245T>C | p.Cys749Arg | damaging | probably damaging | 0.9978 | 28.4 | disease causing | not observed | |
| 9 | g.30790111G>A | c.2500C>T | p.Arg834Trp | damaging | probably damaging | 0.9993 | 32 | disease causing | 4.03E−6, no homozygotes |
| 10 | g.30784946C>T | c.2900−1G>A | N/A | N/A | N/A | 0.9935 | 34 | disease causing | not observed |
| g.30792659del | c.2279delT | p.Leu760Profs∗10 | N/A | N/A | N/A | 33 | disease causing | 1.06E−5, no homozygotes | |
| 11 | g. 30829433del | c.728del | p.Pro243Leufs∗27 | N/A | N/A | N/A | 33 | disease causing | not observed |
| 12 | g.30805169G>C | c.2129C>G | p.Ser710∗ | N/A | N/A | 0.9962 | 38 | disease causing | not observed |