A1680V Summary

SCN5A A1680V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1680V is not present in gnomAD. A1680V has been functionally characterized in 0 papers. Other variants at the same resdue are A1680D .A1680G .A1680P .A1680S .A1680T .A1680V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1680V 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 0.915

A1680V has 59 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
1223 14.5
1225 11.9 E1225K
1226 8.1
1227 7
1228 11.8 Y1228C Y1228H
1229 12.6
1230 13.9 E1230K
1300 12.5
1301 12.5
1304 14.9 T1304M
1672 11.5 S1672Y
1673 11.9
1674 11.7 F1674V
1675 8
1676 7 M1676I M1676I M1676I
1677 6.7
1678 7.3 N1678S
1679 5.6
1681 4.5 Y1681F
1682 5.2
1683 9.4
1684 12.2
1685 13.7
1687 14.7
1688 11.3
1689 14.6
1690 12 D1690N
1691 14.6
1692 14.1
1693 8.5
1694 6.8
1695 6
1696 9.9
1697 13.5
1698 13.8 A1698T
1699 11.7
1700 11.2
1703 13.2
1716 13.7
1717 15
1719 11.8
1720 10.1
1721 13.7
1722 14.5 N1722D
1731 13.6
1732 11.3
1734 14.1
1738 12.9
1739 10.7 R1739Q R1739W
1740 6.9 G1740R G1740R
1741 7.8 D1741N
1742 9.2
1743 8.7 G1743E G1743R G1743R
1744 9.7 S1744I
1745 13.5
1747 11.7 V1747M
1748 12.9
1751 13
1752 14.9