E1685G Summary

SCN5A E1685G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1685G is not present in gnomAD. E1685G has been functionally characterized in 0 papers. Other variants at the same resdue are E1685A .E1685D .E1685D .E1685G .E1685K .E1685Q .E1685V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1685G 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 0.782

E1685G has 43 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
375 14.7
379 14
1378 13.7 V1378M
1398 14.5 V1398M
1399 10.1
1400 14.4
1679 13.1
1680 13.7 A1680T
1681 13.9 Y1681F
1682 8.8
1683 6.6
1684 5.9
1686 4.2
1687 6.6
1688 6.1
1689 9.5
1690 10.7 D1690N
1691 13.9
1692 12.4
1693 11.9
1694 12.7
1695 14.2
1703 13.9
1712 12.9 G1712S
1714 10.9
1715 8
1716 9.2
1717 10.3
1718 6.7
1719 4.5
1720 8.7
1721 10.1
1722 11.7 N1722D
1723 12.9 T1723N
1725 14.8 P1725L
1739 14.3 R1739Q R1739W
1740 14.3 G1740R G1740R
1741 11 D1741N
1742 12.6
1743 11 G1743E G1743R G1743R
1744 12.2 S1744I
1745 14.2
1748 14.4