E1781A Summary

SCN5A E1781A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1781A is not present in gnomAD. E1781A has been functionally characterized in 0 papers. Other variants at the same resdue are E1781A .E1781D .E1781D .E1781G .E1781K .E1781Q .E1781V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1781A Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.898

E1781A has 60 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber Distance(Å) Variants
414 13.2
1474 14.7
1477 13.6
1478 14.5
1481 14.1
1482 14.6
1488 13.5
1489 10.2 E1489D E1489D
1490 10.9
1491 12.4
1492 8.8
1493 5.6 K1493R p.K1493del
1494 11.2
1495 11.3
1496 6.9
1497 8.3
1498 12.4 M1498R M1498T
1499 12.4
1500 8.6
1501 13.1 L1501V
1503 14.7
1504 15
1641 13
1642 13.4
1644 13.9 R1644C R1644H
1645 9.7 T1645M
1646 12.7
1647 14.7
1648 9.9
1649 10.5
1650 14.5
1651 14.5
1652 10.5
1653 14.6
1772 14.8
1773 12.3
1774 10.2
1775 10.4
1776 8.5
1777 5.5 V1777M
1778 4.6
1779 6.6 T1779M
1780 6
1782 5.5
1783 6.9
1784 8.3 E1784K
1785 5.2
1786 7 L1786Q
1787 6.2 S1787N
1788 9
1789 11.2
1790 10.1 D1790G D1790N
1791 10.4
1792 13.7 D1792N
1824 13.2
1825 14.6 L1825P
1858 12.7
1861 12.8
1862 12
1865 13.4