E1773D Summary

SCN5A E1773D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1773D is not present in gnomAD. E1773D has been functionally characterized in 0 papers. Other variants at the same resdue are E1773A .E1773D .E1773D .E1773G .E1773K .E1773Q .E1773V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

E1773D 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 0.845

E1773D has 70 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
403 14
406 11.4 N406K N406K N406S
407 12.5
408 14.9
409 11.2 L409V
410 9.4
411 12.9 V411M
412 13.8
413 10.7 A413T
414 11.6
415 14.9
417 13
935 13.7
936 13.2
939 10.8
940 14.3
943 13.6
1319 14.9 G1319V
1322 11.9
1323 13.1
1326 12.6
1466 11.3
1467 11.2
1468 12.5
1469 10.3
1470 6.5
1471 8.7
1472 10.3 p.N1472del
1473 6.9 F1473C
1474 5.8
1475 10.6
1476 10.6 Q1476R
1477 6.7
1478 10
1479 13.5
1480 12.5
1481 13
1482 13.5
1487 14.3 M1487L M1487L
1489 11.6 E1489D E1489D
1492 12.8
1493 13.9 K1493R p.K1493del
1496 14.2
1646 13.6
1648 13.7
1649 10.3
1650 12.1
1652 10.3
1653 9.8
1654 14.3
1655 14.2
1656 11.8
1657 12.1
1660 14.3 I1660V
1765 12.8
1766 11.5 M1766T M1766V
1767 11.9 Y1767C
1768 9.4 I1768V
1769 5.7
1770 6.5
1771 7.4
1772 5.1
1774 5.2
1775 8
1776 5.5
1777 6.8 V1777M
1778 9.8
1779 10.5 T1779M
1780 10.8
1781 12.3 E1781G