In Silico Data
SCN5A Variant F892I Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.74 | 0.906 | -3.65 | 0.982 | 59 | 1 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
Functional Data
F892I has 74 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
372 | 15 | |
842 | 15 | |
843 | 12 | T843A, |
844 | 15 | L844RfsX3, |
845 | 14 | c.2533delG, |
846 | 9 | L846R, |
847 | 10 | |
848 | 13 | I848F, |
849 | 12 | |
850 | 8 | V850M, c.2549_2550insTG, |
851 | 12 | c.2552_2553dupGT, c.2550_2551dupGT, p.F851CfsX19, F851L, |
852 | 14 | |
853 | 11 | |
854 | 11 | c.2559delT, |
855 | 14 | |
857 | 14 | G857D, |
878 | 15 | R878L, R878H, R878C, |
879 | 11 | W879R, |
880 | 14 | |
881 | 14 | |
883 | 14 | |
884 | 12 | |
885 | 11 | |
886 | 11 | H886Q, H886P, |
887 | 9 | |
888 | 6 | |
889 | 6 | |
890 | 8 | I890T, |
891 | 6 | I891N, I891T, |
892 | 0 | F892I, |
893 | 7 | R893C, R893H, |
894 | 7 | I894M, |
895 | 5 | L895F, |
896 | 6 | C896S, |
897 | 9 | G897R, G897E, |
898 | 9 | |
899 | 13 | |
901 | 14 | S901L, E901K, |
902 | 12 | |
919 | 13 | |
922 | 10 | V922I, |
923 | 11 | |
925 | 14 | I925F, |
926 | 10 | |
927 | 11 | N927K, N927S, |
930 | 13 | c.2787+17_2787+18insACACACACACACACACACACACA, c.2788-6C>T, |
931 | 11 | |
934 | 14 | |
1415 | 11 | |
1416 | 12 | c.4245+2T>A, c.4245+1G>A, A1416E, c.4245+1G>C, A1416G, |
1417 | 14 | |
1418 | 9 | |
1419 | 14 | K1419E, |
1420 | 14 | G1420V, G1420D, G1420P, G1420R, |
1421 | 9 | |
1422 | 10 | M1422R, |
1424 | 14 | I1424V, |
1425 | 10 | |
1429 | 15 | |
1444 | 13 | L1444I, |
1446 | 15 | |
1447 | 9 | |
1448 | 10 | I1448T, I1448L, |
1449 | 13 | Y1449C, Y1449S, |
1450 | 10 | |
1451 | 7 | V1451D, V1451L, |
1452 | 11 | |
1453 | 12 | |
1454 | 8 | |
1455 | 9 | |
1456 | 13 | |
1457 | 13 | |
1458 | 11 | S1458Y, |
1459 | 9 | c.4376_4379delTCTT, |