In Silico Data
SCN5A Variant A410S Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.92 | 7 | 42 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 13 | 1 | 1 | - | - |
A410S has 84 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
403 | 12 | |
414 | 6 | M414V, |
939 | 11 | L939F, |
1643 | 13 | I1643L, |
404 | 10 | L404V, L404Q, |
937 | 14 | |
1778 | 11 | |
1773 | 9 | |
1765 | 14 | |
249 | 10 | K249X, |
247 | 12 | V247L, |
1653 | 13 | |
254 | 13 | |
1771 | 8 | I1771T, |
401 | 14 | S401P, |
1652 | 14 | M1652T, M1652R, |
1777 | 11 | V1777L, V1777M, |
418 | 12 | E418K, |
250 | 9 | |
409 | 4 | L409V, L409P, |
928 | 11 | L928P, |
1650 | 11 | L1650F, |
417 | 11 | |
934 | 14 | |
933 | 11 | |
1471 | 15 | |
246 | 9 | |
935 | 10 | L935P, |
1779 | 9 | T1779M, |
412 | 6 | V412D, |
924 | 14 | V924I, |
1470 | 11 | |
927 | 14 | N927K, N927S, |
1466 | 12 | c.4396_4397insG, |
245 | 13 | Q245K, |
1776 | 8 | |
1767 | 13 | Y1767C, |
1648 | 15 | |
1769 | 10 | |
402 | 14 | F402L, |
415 | 8 | A415T, |
1649 | 11 | A1649V, |
1768 | 9 | I1768V, |
940 | 14 | S940N, |
1774 | 10 | c.5321_5324dupACTT, N1774D, |
1473 | 15 | F1473S, F1473C, |
256 | 14 | |
405 | 9 | |
1657 | 15 | |
248 | 15 | |
1474 | 14 | |
938 | 14 | |
419 | 15 | Q419X, |
930 | 14 | c.2788-6C>T, c.2787+17_2787+18insACACACACACACACACACACACA, |
1772 | 5 | L1772V, |
1645 | 13 | T1645M, |
251 | 13 | |
410 | 0 | A410V, |
1780 | 12 | E1780G, |
242 | 13 | A242D, |
1770 | 11 | I1770V, |
929 | 11 | |
416 | 11 | Y416C, |
413 | 5 | A413E, A413T, |
408 | 6 | |
253 | 10 | |
407 | 5 | |
936 | 10 | |
1467 | 13 | |
1775 | 5 | F1775V, p.F1775LfsX15, |
1642 | 13 | G1642E, |
1469 | 15 | I1469V, |
406 | 7 | N406S, N406K, |
252 | 13 | |
411 | 4 | V411M, |
243 | 14 | |
932 | 9 | |
1647 | 13 | |
257 | 14 | |
400 | 14 | G400A, G400R, G400E, |
931 | 14 | |
1646 | 9 | |
1782 | 14 | |
1463 | 15 | N1463Y, |