A1778G Summary

SCN5A A1778G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1778G is not present in gnomAD. A1778G has been functionally characterized in 0 papers. Other variants at the same resdue are A1778D .A1778G .A1778P .A1778S .A1778T .A1778V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

A1778G 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 0.945

A1778G has 57 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 14
407 12.5
410 11
411 12.1 V411M
413 13.3 A413T
414 10.1
415 14.3
417 14.8
418 14.2
1474 13.8
1477 12.9
1489 12.1 E1489D E1489D
1490 14.1
1492 11.8
1493 9.5 K1493R p.K1493del
1495 14.8
1496 10.4
1497 12.5
1500 11.6
1640 14.8
1641 11.7
1642 10.4
1643 12.1
1644 11.7 R1644C R1644H
1645 6.8 T1645M
1646 8.5
1647 11
1648 7.4
1649 6.7
1650 10.4
1651 11.7
1652 8.1
1653 11.4
1654 14.8
1769 14.3
1770 13.2
1771 11.5
1772 11.1
1773 9.8
1774 7.1
1775 5.9
1776 5.6
1777 4.1 V1777M
1779 3.9 T1779M
1780 6.2
1781 4.6 E1781G
1782 6.1
1783 8.6
1784 11.8 E1784K
1785 9.2
1786 10.4 L1786Q
1787 7.7 S1787N
1788 9.7
1789 11.2
1790 11.8 D1790G D1790N
1791 13
1792 14.4 D1792N