In Silico Data
SCN5A Variant A735E Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.62 | 0.004 | -2.37 | 0.947 | 72 | 10 |
Reported Carrier Data
Functional Data
A735E has 57 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
726 | 15 | |
727 | 13 | |
728 | 10 | V728I, |
729 | 10 | p.L729del, |
730 | 9 | N730K, |
731 | 6 | T731I, |
732 | 5 | |
733 | 7 | F733L, |
734 | 5 | M734V, c.2201dupT, |
735 | 0 | A735T, A735E, A735V, |
736 | 4 | L736P, |
737 | 6 | |
738 | 10 | |
739 | 14 | |
740 | 14 | p.N740del, |
741 | 12 | p.M741_T742delinsI , |
742 | 14 | T742A, |
745 | 11 | |
746 | 14 | E746K, |
748 | 12 | M748I, |
749 | 9 | |
750 | 14 | Q750R, |
752 | 13 | G752R, |
753 | 12 | |
756 | 14 | |
808 | 13 | R808C, R808P, R808H, |
809 | 14 | |
811 | 12 | R811H, R811G, c.2435_2436+3delTGGTAinsCGCCT, |
812 | 11 | L812Q, |
814 | 13 | R814Q, |
815 | 11 | |
818 | 14 | |
1342 | 12 | |
1343 | 12 | |
1345 | 14 | W1345C, |
1346 | 8 | L1346I, L1346P, |
1347 | 11 | |
1348 | 13 | F1348L, |
1349 | 8 | |
1350 | 6 | I1350T, I1350L, |
1351 | 12 | M1351R, M1351V, |
1352 | 11 | |
1353 | 8 | V1353M, |
1354 | 10 | |
1355 | 15 | |
1357 | 12 | A1357V, |
1401 | 15 | |
1402 | 13 | |
1403 | 12 | |
1404 | 9 | |
1405 | 6 | V1405M, V1405L, |
1406 | 10 | G1406E, G1406R, |
1407 | 12 | |
1408 | 11 | G1408R, |
1409 | 12 | Y1409X, Y1409C, |
1410 | 15 | |
1412 | 15 | L1412F, |