SIFT results for ENG and ACVRL1 missense variants
| Gene | Type* | Number | Variants† | SIFT prediction |
|---|---|---|---|---|
| *M = mutation; P = polymorphism. | ||||
| †Novel mutations are in bold. Numbers in parentheses indicated frequency of previously reported polymorphic variants in our study. | ||||
| ENG | M | 20 | L32R, V49F, G52V, G52D, C53R, W149C, A160D, P165L, L194P, L221P, W261R, I263T, V311G, C363Y, K374S, F403S, S407N, C412S, G413V, S615L | Affecting |
| ENG | M | 6 | W196R, G214S, D264N, L306P, A308D, V504M | Tolerated |
| ENG | M | 8 | M1V, M1T, M1R, L8P, L107R, V125D, G331S, C382W | Non-informative |
| ENG | P | 2 | P131L, D366H (0.5%) | Affecting |
| ENG | P | 4 | G191D (6.4%), R197Q (0.9%), P352L, I575T | Tolerated |
| ENG | P | 1 | T5M (3.8%) | Non-informative |
| ACVRL1 | M | 62 | G48R, C51Y, R67W, C77W, N96D, G211D, E215K, G223R, K229R, L273P, I276T, S284F, L285F, S305P, A306P, G309S, H314Y, R329H, D330N, D330Y, S333I, L337P, N341K, C344Y, C344F, A347P, G350R, A352P, A352D, R374W, R374Q, Y375H, M376V, M376R, P378H, P378L, E379K, V380G, R386H, D397N, D397G, I398N, W399S, A400D, G402S, W406C, E407D, R411W, R411Q, R411P, P424T, P424S, P424L, F425V, F425L, P433S, M438T, V441M, P452L, R479L, R484W, K487T | Affecting |
| ACVRL1 | M | 6 | G48E, W50C, R67Q, N98S, A128D, D179A | Tolerated |
| ACVRL1 | M | 0 | None | Non-informative |
| ACVRL1 | P | 1 | A482V | Affecting |
| ACVRL1 | P | 0 | None | Tolerated |
| ACVRL1 | P | 0 | None | Non-informative |