In Silico Data
SCN5A Variant Y1445H Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.72 | 0.961 | -0.4 | 0.94 | 14 | 1 |
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: | - | 9 | 9 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 0 | 1 | - | - |
Y1445H has 38 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
152 | 15 | D152N, |
804 | 14 | |
805 | 13 | S805L, |
806 | 13 | V806M, |
883 | 13 | |
884 | 13 | |
885 | 9 | |
886 | 12 | H886Q, H886P, |
888 | 13 | |
889 | 13 | |
1351 | 14 | M1351R, M1351V, |
1352 | 14 | |
1355 | 11 | |
1356 | 12 | c.4066_4068delTT, |
1359 | 14 | K1359M, K1359N, |
1425 | 12 | |
1426 | 14 | |
1427 | 14 | A1427E, A1427S, |
1428 | 11 | A1428S, A1428V, |
1429 | 8 | |
1430 | 12 | D1430N, |
1431 | 11 | S1431C, |
1432 | 11 | R1432S, R1432G, |
1433 | 13 | G1433W, G1433V, G1433R, |
1439 | 14 | Q1439R, Q1439H, |
1440 | 14 | W1440X, |
1441 | 12 | E1441Q, |
1442 | 10 | Y1442C, Y1442N, |
1443 | 5 | N1443S, |
1444 | 6 | L1444I, |
1445 | 0 | Y1445H, |
1446 | 4 | |
1447 | 7 | |
1448 | 8 | I1448T, I1448L, |
1449 | 11 | Y1449S, Y1449C, |
1450 | 12 | |
1451 | 12 | V1451D, V1451L, |
1452 | 13 |