E1490Q Summary

SCN5A E1490Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1490Q is not present in gnomAD. E1490Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1490A .E1490D .E1490D .E1490G .E1490K .E1490Q .E1490V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

E1490Q 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 0.855

E1490Q has 40 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
421 13.4
1478 13.8
1482 14
1483 12.6
1484 13.8
1485 12.8
1486 8.9
1487 9.7 M1487L M1487L
1488 4.6
1489 5.8 E1489D E1489D
1491 6
1492 8.2
1493 5.5 K1493R p.K1493del
1494 9.1
1495 11.8
1496 11.2
1497 12.4
1498 13.9 M1498R M1498T
1776 13.9
1777 12.5 V1777M
1778 14.1
1779 13.6 T1779M
1780 9.3
1781 10.9 E1781G
1782 12.9
1783 9.9
1784 7.1 E1784K
1785 9.7
1786 13.9 L1786Q
1861 14.7
1862 11.1
1863 14
1865 11.8
1866 11.8
1867 13.6
1868 8.4
1869 10.9
1870 14.7 A1870T
1872 13.6
1874 12.7