E1489A Summary

SCN5A E1489A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1489A is not present in gnomAD. E1489A has been functionally characterized in 0 papers. Other variants at the same resdue are E1489A .E1489D .E1489D .E1489G .E1489K .E1489Q .E1489V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

E1489A 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 0.884

E1489A 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
414 14.7
417 12.6
421 12.6
943 14.2
1471 13.8
1474 9.7
1475 12
1477 12
1478 8.7
1479 14.9
1481 12.2
1482 10.5
1483 10.2
1484 10.1
1485 11.4
1486 8.8
1487 6.1 M1487L M1487L
1488 4.5
1490 5.8
1491 8.2
1492 6.3
1493 6.4 K1493R p.K1493del
1494 12
1495 11.4
1496 10.4
1497 13.6
1773 11.6
1774 13.7
1775 14.6
1776 10
1777 9.1 V1777M
1778 12.1
1779 11.8 T1779M
1780 7.8
1781 10.2 E1781G
1782 13.3
1783 11.4
1784 10.9 E1784K
1785 11.8
1868 14.2