In Silico Data
SCN5A Variant D1430N Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.74 | 1 | -1.04 | 0.941 | 73 | 4 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
23612926 | 2013 | 2 | 0 | 2 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 2 | 0 | 0 | 2 | - | |
VARIANT FEATURES ALONE: | - | 15 | 10 | 0 | 5 | - | - |
Functional Data
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|---|---|---|---|---|---|
23612926 | 2013 | tsA201 | 0 |
D1430N has 62 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
877 | 14 | |
878 | 10 | R878L, R878C, R878H, |
879 | 12 | W879R, |
880 | 15 | |
886 | 13 | H886Q, H886P, |
889 | 15 | |
1352 | 15 | |
1355 | 12 | |
1356 | 10 | c.4066_4068delTT, |
1357 | 13 | A1357V, |
1358 | 12 | G1358W, G1358R, |
1359 | 8 | K1359M, K1359N, |
1360 | 8 | F1360C, |
1361 | 9 | |
1362 | 7 | R1362S, c.4083delG, |
1363 | 12 | C1363Y, |
1364 | 13 | I1364V, |
1379 | 15 | |
1380 | 10 | p.N1380del, N1380K, |
1381 | 14 | |
1382 | 11 | S1382I, |
1383 | 12 | Q1383X, |
1386 | 12 | |
1387 | 12 | L1387F, |
1388 | 14 | |
1395 | 13 | |
1396 | 13 | |
1397 | 13 | c.4190delA, c.4189delT, |
1398 | 11 | V1398M, |
1400 | 14 | V1400I, |
1401 | 14 | |
1402 | 13 | |
1420 | 15 | G1420V, G1420D, G1420P, G1420R, |
1421 | 15 | |
1422 | 13 | M1422R, |
1423 | 11 | D1423H, |
1424 | 10 | I1424V, |
1425 | 9 | |
1426 | 5 | |
1427 | 5 | A1427S, A1427E, |
1428 | 5 | A1428S, A1428V, |
1429 | 5 | |
1430 | 0 | D1430N, |
1431 | 4 | S1431C, |
1432 | 8 | R1432G, R1432S, |
1433 | 9 | G1433R, G1433V, G1433W, |
1434 | 12 | c.4299+2T>A, c.4299delG, c.4299G>A, c.4299_4300insG, c.4299+1G>T, c.4299+1delG, c.4299+28C>T, Y1434X, c.4300-2A>T, c.4300-1G>A, |
1435 | 14 | |
1436 | 11 | |
1437 | 8 | |
1438 | 5 | P1438L, |
1439 | 6 | Q1439R, Q1439H, |
1440 | 7 | W1440X, |
1441 | 9 | E1441Q, |
1442 | 8 | Y1442N, Y1442C, |
1443 | 8 | N1443S, |
1444 | 9 | L1444I, |
1445 | 12 | Y1445H, |
1446 | 11 | |
1447 | 13 | |
1449 | 14 | Y1449C, Y1449S, |
1450 | 13 |