In Silico Data
SCN5A Variant I1768T Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.986 | 7 | 64 |
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 | 12 | 2 | 1 | - | - |
I1768T has 86 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
403 | 9 | |
414 | 15 | M414V, |
939 | 12 | L939F, |
1659 | 14 | |
404 | 11 | L404Q, L404V, |
1773 | 9 | |
1765 | 5 | |
1653 | 11 | |
1472 | 12 | N1472S, p.N1472del, |
1771 | 6 | I1771T, |
401 | 10 | S401P, |
1652 | 15 | M1652R, M1652T, |
1764 | 7 | c.5290delG, V1764F, |
371 | 13 | Q371E, |
409 | 8 | L409P, L409V, |
928 | 13 | L928P, |
1650 | 12 | L1650F, |
1656 | 12 | |
934 | 15 | |
1477 | 14 | K1477N, |
933 | 15 | |
1471 | 12 | |
935 | 10 | L935P, |
412 | 13 | V412D, |
1762 | 10 | I1762M, p.I1762del, |
1470 | 7 | |
1464 | 13 | L1464P, c.4389_4396delCCTCTTTA, |
927 | 14 | N927K, N927S, |
1466 | 6 | c.4396_4397insG, |
1776 | 13 | |
369 | 14 | M369K, |
1767 | 6 | Y1767C, |
1660 | 10 | I1660V, I1660S, |
1654 | 14 | |
1769 | 4 | |
402 | 8 | F402L, |
1766 | 7 | M1766T, M1766V, M1766L, |
1649 | 14 | A1649V, |
1768 | 0 | I1768V, |
1774 | 11 | N1774D, c.5321_5324dupACTT, |
1473 | 9 | F1473C, F1473S, |
1468 | 11 | V1468A, V1468F, |
1663 | 14 | |
399 | 14 | |
397 | 14 | I397F, I397T, I397V, |
405 | 8 | |
1657 | 10 | |
1462 | 13 | |
1474 | 13 | |
1759 | 12 | S1759C, |
938 | 14 | |
1327 | 14 | |
1709 | 13 | T1709M, T1709R, p.T1709del, |
1758 | 15 | p.I1758del, I1758V, |
1330 | 15 | A1330T, A1330P, A1330D, |
1772 | 6 | L1772V, |
1323 | 13 | V1323G, |
410 | 9 | A410V, |
1770 | 7 | I1770V, |
1658 | 14 | |
1708 | 14 | T1708I, |
413 | 12 | A413T, A413E, |
408 | 11 | |
1322 | 15 | c.3963+4A>G, c.3963+2T>C, |
407 | 10 | |
1326 | 13 | A1326S, |
936 | 12 | |
1763 | 9 | V1763L, V1763M, |
1465 | 12 | p.F1465_L1480dup, |
1760 | 11 | |
1467 | 10 | |
1775 | 12 | F1775V, p.F1775LfsX15, |
370 | 15 | T370M, |
1661 | 13 | G1661E, G1661R, |
1761 | 11 | c.5280delG, L1761F, L1761H, |
1655 | 15 | |
1469 | 8 | I1469V, |
406 | 5 | N406K, N406S, |
1710 | 15 | S1710L, |
411 | 13 | V411M, |
932 | 10 | |
398 | 12 | |
400 | 12 | G400E, G400R, G400A, |
931 | 14 | |
1664 | 13 | |
1463 | 11 | N1463Y, |