In Silico Data
SCN5A Variant L1308F Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-3.49 | 1 | -0.79 | 0.778 | 9 | 2 |
Reported Carrier Data
Functional Data
L1308F has 61 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1211 | 14 | |
1212 | 13 | p.I1212del, |
1214 | 15 | M1214T, |
1215 | 10 | I1215V, |
1216 | 12 | L1216V, |
1218 | 12 | S1218T, S1218I, |
1219 | 10 | S1219N, |
1220 | 14 | G1220E, |
1221 | 15 | A1221V, |
1222 | 12 | p.L1222LfsX7, L1222R, |
1223 | 14 | c.3667delG, |
1246 | 15 | |
1250 | 13 | |
1253 | 15 | E1253G, |
1269 | 14 | N1269S, |
1270 | 11 | A1270S, |
1271 | 9 | W1271C, |
1272 | 12 | |
1273 | 12 | W1273C, c.3816delG, |
1274 | 6 | |
1275 | 9 | D1275N, |
1276 | 13 | |
1277 | 10 | |
1278 | 8 | I1278N, |
1279 | 13 | V1279I, |
1280 | 14 | |
1281 | 12 | c.3840+1G>A, V1281F, |
1282 | 13 | S1282A, |
1301 | 12 | |
1302 | 12 | p.L1302Vfs18, |
1303 | 12 | R1303W, R1303Q, |
1304 | 7 | T1304M, |
1305 | 5 | |
1306 | 8 | R1306S, R1306H, |
1307 | 4 | |
1308 | 0 | L1308F, |
1309 | 7 | R1309H, R1309C, |
1310 | 6 | |
1311 | 6 | L1311P, |
1312 | 11 | |
1313 | 11 | |
1314 | 11 | c.3940_3941delCT, |
1315 | 12 | |
1324 | 14 | |
1327 | 15 | |
1663 | 13 | |
1665 | 14 | |
1666 | 9 | |
1667 | 10 | V1667I, |
1668 | 14 | M1668T, |
1669 | 10 | |
1670 | 7 | |
1671 | 10 | |
1672 | 12 | S1672Y, |
1673 | 10 | |
1674 | 10 | F1674V, |
1675 | 14 | |
1677 | 15 | |
1751 | 15 | |
1754 | 14 | |
1758 | 14 | I1758V, p.I1758del, |