Missense variants and their significances predicted by in silico analyses
| Gene . | Base change . | AA change . | SIFT . | PolyPhen . | Grantham scale* . | Conservation (in mammals) . | MAF, % . | Reference(s) . |
|---|---|---|---|---|---|---|---|---|
| PRF1 | 10 C > T | R4C | Not tolerated | Inconclusive | 180 | Not conserved | 2-4 | NCBI |
| PRF1 | 98 G > A | R33H | Not tolerated | Benign | 29 | Not conserved | 0 | This study |
| PRF1 | 272 C > T | A91V | Not tolerated | Possibly damaging | 64 | Conserved | 4-9 | 14,15,20,24-26 |
| PRF1 | 445 G > A | G149S | Not tolerated | Benign | 56 | Conserved | 0 | 22 |
| PRF1 | 563 C > T | P188L | Not tolerated | Probably damaging | 98 | Conserved | 0 | This study |
| PRF1 | 695 G > A | R232H | Tolerated | Benign | 29 | Conserved | 0 | 3,15,17 |
| PRF1 | 1042 G > A | V348M | Tolerated | Benign | 21 | Not conserved | 0 | This study |
| PRF1 | 1066 C > T | R356W | Not tolerated | Possibly damaging | 101 | Conserved | 0 | 22 |
| PRF1 | 1229 G > A | R410Q | Tolerated | Benign | 43 | Conserved | 0 | This study |
| PRF1 | 1310 C > T | A437V | Not tolerated | Benign | 64 | Conserved | 0 | This study |
| PRF1 | 1349 C > T | T450M | Not tolerated | Probably damaging | 81 | Conserved | 0 | 13 |
| MUNC13-4 | 182 A > G | Y61C | Not tolerated | Probably damaging | 194 | Conserved | 0 | This study |
| MUNC13-4 | 1369 C > A | L457M | Not tolerated | Benign | 15 | Conserved | 0 | This study |
| MUNC13-4 | 1579 C > T | R527W | Not tolerated | Probably damaging | 101 | Not conserved | 2 | 28, NCBI |
| MUNC13-4 | 2174 A > G | E725G | Tolerated | Benign | 98 | Conserved | 0 | This study |
| MUNC13-4 | 2240 G > A | S747N | Tolerated | Benign | 46 | Not conserved | 0 | This study |
| Gene . | Base change . | AA change . | SIFT . | PolyPhen . | Grantham scale* . | Conservation (in mammals) . | MAF, % . | Reference(s) . |
|---|---|---|---|---|---|---|---|---|
| PRF1 | 10 C > T | R4C | Not tolerated | Inconclusive | 180 | Not conserved | 2-4 | NCBI |
| PRF1 | 98 G > A | R33H | Not tolerated | Benign | 29 | Not conserved | 0 | This study |
| PRF1 | 272 C > T | A91V | Not tolerated | Possibly damaging | 64 | Conserved | 4-9 | 14,15,20,24-26 |
| PRF1 | 445 G > A | G149S | Not tolerated | Benign | 56 | Conserved | 0 | 22 |
| PRF1 | 563 C > T | P188L | Not tolerated | Probably damaging | 98 | Conserved | 0 | This study |
| PRF1 | 695 G > A | R232H | Tolerated | Benign | 29 | Conserved | 0 | 3,15,17 |
| PRF1 | 1042 G > A | V348M | Tolerated | Benign | 21 | Not conserved | 0 | This study |
| PRF1 | 1066 C > T | R356W | Not tolerated | Possibly damaging | 101 | Conserved | 0 | 22 |
| PRF1 | 1229 G > A | R410Q | Tolerated | Benign | 43 | Conserved | 0 | This study |
| PRF1 | 1310 C > T | A437V | Not tolerated | Benign | 64 | Conserved | 0 | This study |
| PRF1 | 1349 C > T | T450M | Not tolerated | Probably damaging | 81 | Conserved | 0 | 13 |
| MUNC13-4 | 182 A > G | Y61C | Not tolerated | Probably damaging | 194 | Conserved | 0 | This study |
| MUNC13-4 | 1369 C > A | L457M | Not tolerated | Benign | 15 | Conserved | 0 | This study |
| MUNC13-4 | 1579 C > T | R527W | Not tolerated | Probably damaging | 101 | Not conserved | 2 | 28, NCBI |
| MUNC13-4 | 2174 A > G | E725G | Tolerated | Benign | 98 | Conserved | 0 | This study |
| MUNC13-4 | 2240 G > A | S747N | Tolerated | Benign | 46 | Not conserved | 0 | This study |
NCBI indicates National Center for Biotechnology Information; and MAF, minor allele frequency.
Grantham scale: < 50, conservative; 51-100, moderately conservative; 101-150, moderately radical; and > 151, radical.