Table 2. Carriers and pathogenic potentials of the four novel SNRNP200 non-synonymous variants.
| Variants | Exon |
Case |
Control | Descriptions |
PolyPhen |
PolyPhen 2 |
SIFT |
SIFT BLink |
PMUT |
||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Type | Sex/Age | Prediction | PSIC score | Prediction | HumanVar score | Prediction | Score | Prediction | Score | Prediction | RI | ||||
| c.1504T>C (p.C502R) | 12 | sRP | F/71 | 0/0/178 | Novel | Probably damaging | 4.14 | Probably damaging | 1.00 | Damaging | 0 | Affected Protein Function | 0 | Pathologic | 4 |
| c.2092A>G (p.I698V) | 16 | — | NA | 0/0/178 | Novel | Benign | 0.74 | Benign | 0.00 | Tolerated | 0.12 | Tolerated | 0.23 | Neutral | 9 |
| c.5356G>A (p.R1779H) | 38 | sRP | F/53 | 0/0/178 | Novel | Benign | 0.27 | Probably damaging | 0.95 | Damaging | 0.04 | Affected Protein Function | 0.01 | Neutral | 0 |
| c.5983G>A (p.A1995T) | 42 | — | M/62 | 0/1/178 | Novel | Benign | 0.20 | Benign | 0.00 | Tolerated | 0.14 | Tolerated | 0.31 | Neutral | 5 |
Abbreviations: Age, age (years) at recruitment; PSIC, position-specific independent counts, a scoring system used in PolyPhen; RI, reliability index; sRP, simplex retinitis pigmentosa; Type, type of RP.