In Silico Data
SCN5A Variant M1422R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.42 | 1 | -4.01 | 0.971 | 33 | 2 |
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 | 13 | 0 | 2 | - | - |
M1422R has 70 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
372 | 13 | |
373 | 12 | |
375 | 14 | |
376 | 15 | R376H, R376C, |
877 | 12 | |
878 | 7 | R878L, R878C, R878H, |
879 | 6 | W879R, |
880 | 13 | |
885 | 15 | |
886 | 12 | H886Q, H886P, |
887 | 14 | |
888 | 13 | |
889 | 9 | |
890 | 10 | I890T, |
891 | 13 | I891T, I891N, |
892 | 10 | F892I, |
893 | 6 | R893C, R893H, |
894 | 12 | I894M, |
895 | 13 | L895F, |
896 | 10 | C896S, |
897 | 11 | G897R, G897E, |
898 | 8 | |
899 | 14 | |
900 | 13 | |
901 | 9 | E901K, S901L, |
902 | 11 | |
905 | 14 | |
1356 | 15 | c.4066_4068delTT, |
1360 | 14 | F1360C, |
1398 | 14 | V1398M, |
1400 | 12 | V1400I, |
1402 | 15 | |
1411 | 12 | |
1412 | 13 | L1412F, |
1413 | 14 | |
1414 | 10 | Q1414H, |
1415 | 9 | |
1416 | 12 | c.4245+1G>C, A1416G, c.4245+2T>A, c.4245+1G>A, A1416E, |
1417 | 12 | |
1418 | 9 | |
1419 | 9 | K1419E, |
1420 | 6 | G1420R, G1420V, G1420P, G1420D, |
1421 | 4 | |
1422 | 0 | M1422R, |
1423 | 5 | D1423H, |
1424 | 7 | I1424V, |
1425 | 5 | |
1426 | 8 | |
1427 | 10 | A1427E, A1427S, |
1428 | 10 | A1428V, A1428S, |
1429 | 11 | |
1430 | 13 | D1430N, |
1431 | 15 | S1431C, |
1440 | 13 | W1440X, |
1444 | 13 | L1444I, |
1446 | 15 | |
1447 | 12 | |
1448 | 15 | I1448L, I1448T, |
1449 | 14 | Y1449C, Y1449S, |
1450 | 10 | |
1451 | 13 | V1451L, V1451D, |
1453 | 14 | |
1454 | 12 | |
1458 | 14 | S1458Y, |
1710 | 15 | S1710L, |
1711 | 14 | c.5131delG, |
1712 | 13 | G1712C, G1712S, |
1713 | 15 | |
1714 | 11 | D1714G, |
1715 | 14 |