E1780D Summary

SCN5A E1780D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1780D is not present in gnomAD. E1780D has been functionally characterized in 0 papers. Other variants at the same resdue are E1780A .E1780D .E1780D .E1780G .E1780K .E1780Q .E1780V . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1780D 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 0.768

E1780D has 52 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
249 13.9
410 12.2
411 12.8 V411M
412 14.9
413 11.9 A413T
414 8.7
415 12
417 10.5
418 10.1
420 14.8
421 11.5
422 14.5
1474 12.9
1477 14.3
1478 14.2
1487 13.7 M1487L M1487L
1488 11.3
1489 7.8 E1489D E1489D
1490 9.3
1491 13.2
1492 10.4
1493 6.6 K1493R p.K1493del
1494 14.1
1495 14.7
1496 11.3
1497 13.3
1500 14.5
1642 13.8
1645 11.8 T1645M
1646 13.3
1648 13.6
1649 12.6
1652 13.7
1772 12.6
1773 10.8
1774 11.1
1775 9
1776 5.9
1777 6 V1777M
1778 6.2
1779 4.4 T1779M
1781 6 E1781G
1782 6.3
1783 5.3
1784 8.3 E1784K
1785 8.1
1786 11.8 L1786Q
1787 11.3 S1787N
1788 14.6
1790 14.9 D1790G D1790N
1862 14.3
1865 13.8