In Silico Data
SCN5A Variant K1359M Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.63 | 0.999 | -0.43 | 0.933 | 52 | 0 |
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: | - | 1 | 1 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 12 | 0 | 3 | - | - |
K1359M has 61 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
737 | 13 | |
738 | 13 | |
739 | 9 | |
740 | 13 | p.N740del, |
741 | 14 | p.M741_T742delinsI , |
805 | 14 | S805L, |
1349 | 14 | |
1350 | 14 | I1350L, I1350T, |
1351 | 13 | M1351V, M1351R, |
1352 | 9 | |
1353 | 10 | V1353M, |
1354 | 11 | |
1355 | 7 | |
1356 | 5 | c.4066_4068delTT, |
1357 | 5 | A1357V, |
1358 | 4 | G1358W, G1358R, |
1359 | 0 | K1359M, K1359N, |
1360 | 5 | F1360C, |
1361 | 7 | |
1362 | 10 | c.4083delG, R1362S, |
1363 | 14 | C1363Y, |
1387 | 14 | L1387F, |
1388 | 13 | |
1395 | 11 | |
1396 | 13 | |
1397 | 10 | c.4189delT, c.4190delA, |
1398 | 10 | V1398M, |
1400 | 12 | V1400I, |
1401 | 9 | |
1402 | 8 | |
1403 | 8 | |
1404 | 13 | |
1405 | 15 | V1405M, V1405L, |
1407 | 13 | |
1408 | 13 | G1408R, |
1411 | 14 | |
1412 | 15 | L1412F, |
1423 | 15 | D1423H, |
1424 | 12 | I1424V, |
1425 | 13 | |
1426 | 12 | |
1427 | 8 | A1427S, A1427E, |
1428 | 7 | A1428V, A1428S, |
1429 | 10 | |
1430 | 8 | D1430N, |
1431 | 5 | S1431C, |
1432 | 9 | R1432S, R1432G, |
1433 | 5 | G1433R, G1433W, G1433V, |
1434 | 5 | c.4299+1G>T, c.4300-1G>A, c.4299+1delG, c.4299_4300insG, c.4300-2A>T, c.4299G>A, Y1434X, c.4299+2T>A, c.4299delG, c.4299+28C>T, |
1435 | 9 | |
1436 | 9 | |
1437 | 10 | |
1438 | 8 | P1438L, |
1439 | 12 | Q1439H, Q1439R, |
1442 | 13 | Y1442C, Y1442N, |
1443 | 10 | N1443S, |
1444 | 14 | L1444I, |
1445 | 14 | Y1445H, |
1446 | 11 | |
1449 | 12 | Y1449S, Y1449C, |
1450 | 13 |