Table 1 Summary of investigated mutations.
Mutation | dbSNP rs# cluster ID | Protein Position | OMIM® *608305 | Grantham Score | PolyPhen2 Prediction |
|---|---|---|---|---|---|
c.655G > A | rs144332569 | p.G219R | 0.0001 | 125 | probably damaging |
c.656G > A | rs150024888 | p.G219E | None | 98 | probably damaging |
c.680C > T | rs587777577 | p.T227M | 0.0002 | 81 | probably damaging |
c.727G > A | rs142262032 | p.D243N | None | 23 | benign |
c.1259T > C | rs150738356 | p.L420P | None | 98 | probably damaging |
c.1454T > G | rs148049520 | p.L485R | None | 102 | probably damaging |
c.1463T > C | rs587777578 | p.L488P | 0.0003 | 98 | probably damaging |
c.1498T > C | --------------- | p.F500L | ---------- | ----------- | benign |
