Table 4

 SIFT results for ENG and ACVRL1 missense variants

GeneType*NumberVariants†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 M20L32R, V49F, G52V, G52D, C53R, W149C, A160D, P165L, L194P, L221P, W261R, I263T, V311G, C363Y, K374S, F403S, S407N, C412S, G413V, S615LAffecting
ENG M6W196R, G214S, D264N, L306P, A308D, V504MTolerated
ENG M8M1V, M1T, M1R, L8P, L107R, V125D, G331S, C382WNon-informative
ENG P2P131L, D366H (0.5%)Affecting
ENG P4G191D (6.4%), R197Q (0.9%), P352L, I575TTolerated
ENG P1T5M (3.8%)Non-informative
ACVRL1 M62G48R, 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, K487TAffecting
ACVRL1 M6G48E, W50C, R67Q, N98S, A128D, D179ATolerated
ACVRL1 M0NoneNon-informative
ACVRL1 P1A482VAffecting
ACVRL1 P0NoneTolerated
ACVRL1 P0NoneNon-informative