In Silico Data
SCN5A Variant F1317C Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-7.08 | 1 | -3.43 | 0.938 | 10 | 3 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 2 | 2 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 0 | 1 | - | - |
F1317C has 38 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1208 | 14 | E1208K, E1208X, |
1209 | 13 | T1209R, |
1212 | 12 | p.I1212del, |
1216 | 14 | L1216V, |
1271 | 14 | W1271C, |
1310 | 12 | |
1311 | 12 | L1311P, |
1312 | 10 | |
1313 | 7 | |
1314 | 6 | c.3940_3941delCT, |
1315 | 7 | |
1316 | 7 | R1316L, R1316Q, |
1317 | 0 | F1317C, |
1318 | 5 | |
1319 | 5 | G1319V, |
1320 | 6 | M1320I, |
1321 | 7 | R1321K, |
1322 | 10 | c.3963+4A>G, c.3963+2T>C, |
1323 | 10 | V1323G, |
1324 | 10 | |
1325 | 13 | N1325S, |
1326 | 15 | A1326S, |
1327 | 15 | |
1480 | 14 | c.4437+5G>A, c.4438-1C>T, |
1653 | 15 | |
1654 | 14 | |
1655 | 10 | |
1656 | 10 | |
1657 | 13 | |
1658 | 11 | |
1659 | 7 | |
1660 | 11 | I1660S, I1660V, |
1661 | 11 | G1661R, G1661E, |
1662 | 8 | |
1663 | 11 | |
1664 | 15 | |
1665 | 14 | |
1666 | 13 |