Line | Allele | Mutation Type | Effect | PSSM | SIFT |
---|---|---|---|---|---|
E334 | G1783A | Silent | Â | Â | Â |
E1239 | G1813A | Missense | E181K | 4.4 | 0.6 |
E469 | G1822A | Missense | E183K | −6 | 0.42 |
E939 | G1848A | Silent | Â | Â | Â |
E1337 | G1863A | Silent | Â | Â | Â |
E2-2-226 | T1880C | Missense | L203S | 26.7 | 0 |
E2-2-437 | T1880C | Missense | L203S | 26.7 | 0 |
E468 | G1890A | Silent | Â | Â | Â |
E1245 | G1920A | Silent | Â | Â | Â |
E391 | G1975A | Missense | D235N | Â | Â |
E137 | G2008A | Missense | D246N | 0.4 | 0.96 |
E054-13 | C2077T | Nonsense | Q269-Stop | Â | Â |
E2-2-193 | C2143T | Missense | L291F | 0.6 | 0.02 |
E2-2-95 | C2152T | Missense | L294F | Â | Â |
E570 | A2219G | Missense | Q316R | 8.4 | 0 |
E1347 | C2353T | Silent | Â | Â | Â |
E783 | G2402A | Missense | S377N | Â | Â |
E236 | G2413A | Silent | Â | Â | Â |
E996 | C3516T | Silent | Â | Â | Â |
E2-2-181 | G3536A | Missense | V469I | Â | Â |
E054-9 | C3740T | Intronic | Â | Â | Â |
E1226 | G3932A | Missense | V550I | 0.9 | 0.09 |
E972 | C3950T | Missense | H556Y | 27.5 | 0 |
E930 | G5872A | Silent | Â | Â | Â |
E1373 | C5878T | Silent | Â | Â | Â |
E1137 | G6327A | Missense | S833N | 12 | 0 |