Table 2. Rare variants (<1%) in the open reading frame of SCRIB that are detected in NTD patients and controls or silent, or recorded in NCBI database.
| Nucleotide change | rs ID | Amino Acid change | Ct(190) /SB(192) | PolyPhen Prediction | SIFT Prediction |
|---|---|---|---|---|---|
| c.18 G>C | new | p. P6P | 1/0 | N/A | N/A |
| c.468 C>T | new | p.A1488A | 0/1 | N/A | N/A |
| c.693 G > A | new | p.R231R | 0/1 | N/A | N/A |
| c.732 G>A | new | p.L244L | 0/1 | N/A | N/A |
| c.756 G>A | rs75171224 | p.Q252Q | 3/3 | N/A | N/A |
| c.762 G>A | rs144565607 | p.L254L | 1/0 | N/A | N/A |
| c.1375 G>A | rs138716612 | p.D459N | 1/0 | probably damaging | TOLERATED |
| c.1460 G>C | rs143419869 | p. S487T | 1/0 | benign | TOLERATED |
| c.3444 C>T | rs150206819 | p.D1148D | 0/1 | N/A | N/A |
| c.3555 C>T | rs142247868 | p.T1185T | 0/1 | N/A | N/A |
| c.3769 G>A | new | p.A1257T | 1/0 | benign | Tolerant |
| c.3816 C>T | new | p.A1272A | 0/1 | N/A | N/A |
| c.3942 C>T | new | p.P1314P | 1/0 | N/A | N/A |
| c.3943 G>A | new | p.A1315T | 1/1 | benign | Tolerant |
| c.4437 G > A | new | p.P1479P | 0/1 | N/A | N/A |
| c.4536 C>T | new | p.D1512D | 0/1 | N/A | N/A |
| c.4662 C>T | rs111739279 | p.L1554L | 3/2 | N/A | N/A |
| c.4803 C>T | rs150660931 | p.P1601P | 0/1 | N/A | N/A |
MAF: Mino Allele Frequency; Ct: Control; SB: Spina Bifida. N/A: Not done
NCBI Reference sequence number for SCRIB: NM_015356