In Silico Data
SCN5A Variant G1352C Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.957 | 45 | 0 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 12 | 0 | 3 | - | - |
G1352C has 69 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1355 | 5 | |
1403 | 9 | |
1357 | 6 | A1357V, |
811 | 13 | R811H, R811G, c.2435_2436+3delTGGTAinsCGCCT, |
741 | 14 | p.M741_T742delinsI , |
1430 | 15 | D1430N, |
808 | 11 | R808P, R808C, R808H, |
1352 | 0 | |
1406 | 11 | G1406R, G1406E, |
1445 | 14 | Y1445H, |
1453 | 11 | |
1447 | 15 | |
1351 | 5 | M1351R, M1351V, |
739 | 12 | |
1449 | 7 | Y1449S, Y1449C, |
1452 | 13 | |
812 | 10 | L812Q, |
1350 | 6 | I1350T, I1350L, |
1429 | 13 | |
1344 | 15 | F1344L, F1344S, |
731 | 14 | T731I, |
806 | 13 | V806M, |
1450 | 10 | |
1398 | 15 | V1398M, |
1411 | 10 | |
1451 | 14 | V1451D, V1451L, |
1353 | 4 | V1353M, |
1407 | 10 | |
737 | 9 | |
1410 | 13 | |
1358 | 10 | G1358W, G1358R, |
1433 | 13 | G1433W, G1433R, G1433V, |
1348 | 8 | F1348L, |
1404 | 10 | |
1349 | 6 | |
1431 | 12 | S1431C, |
1346 | 11 | L1346I, L1346P, |
805 | 12 | S805L, |
1359 | 9 | K1359N, K1359M, |
1356 | 5 | c.4066_4068delTT, |
1434 | 11 | c.4299+2T>A, c.4300-2A>T, c.4299G>A, c.4299+28C>T, c.4299+1G>T, c.4300-1G>A, c.4299delG, c.4299+1delG, Y1434X, c.4299_4300insG, |
1412 | 9 | L1412F, |
810 | 14 | |
1408 | 8 | G1408R, |
735 | 11 | A735V, A735T, A735E, |
1360 | 11 | F1360C, |
734 | 11 | c.2201dupT, M734V, |
1401 | 10 | |
1425 | 13 | |
1454 | 15 | |
1354 | 5 | |
1427 | 13 | A1427S, A1427E, |
1446 | 11 | |
1424 | 12 | I1424V, |
738 | 12 | |
1448 | 13 | I1448L, I1448T, |
1405 | 9 | V1405M, V1405L, |
809 | 10 | |
1409 | 12 | Y1409C, Y1409X, |
815 | 15 | |
1400 | 13 | V1400I, |
1345 | 13 | W1345C, |
1443 | 14 | N1443S, |
736 | 12 | L736P, |
1347 | 10 | |
1415 | 13 | |
1428 | 10 | A1428S, A1428V, |
1402 | 6 | |
1413 | 14 |