D1690E Summary

SCN5A D1690E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1690E is not present in gnomAD. D1690E has been functionally characterized in 0 papers. Other variants at the same resdue are D1690A .D1690E .D1690E .D1690G .D1690H .D1690N .D1690V .D1690Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1690E 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 0.886

D1690E has 50 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
324 12.5
325 13.9
326 11.9
327 13.8
329 14.6
330 14
331 10.7
332 10.8 A332T
333 7.9
334 9.2
335 11.8 C335R
336 11.9 P336L
379 11.9
382 13.1
383 9.6
384 14.9
386 14.6 G386E G386R G386R
387 13.8
1227 12.2
1228 13.3 Y1228C Y1228H
1676 14.7 M1676I M1676I M1676I
1679 14.2
1680 12 A1680T
1681 10.3 Y1681F
1682 10.6
1683 10.5
1684 5.4
1685 10.7
1686 11.7
1687 9.5
1688 6.9
1689 4.9
1691 6.1
1692 8
1693 6.4
1694 10.9
1695 8
1696 11.2
1698 12.9 A1698T
1699 9.4
1700 13.1
1702 12.7
1703 12.3
1715 14.6
1716 13.4
1719 12.5
1720 14.8
1739 14.4 R1739Q R1739W
1740 14.8 G1740R G1740R
1741 12.2 D1741N