A1686D Summary

SCN5A A1686D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1686D is not present in gnomAD. A1686D has been functionally characterized in 0 papers. Other variants at the same resdue are A1686D .A1686G .A1686P .A1686S .A1686T .A1686V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1686D 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 0.37

A1686D has 47 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 13.2
375 10.8
376 11.9 R376H
379 10.9
380 14.4
383 13.8
1378 13.7 V1378M
1398 14.1 V1398M
1399 10.4
1400 13.3
1414 14.4
1419 13.6
1420 12.1 G1420R G1420V
1423 12.6
1679 14.6
1682 11.8
1683 10.6
1684 8.1
1685 4.2
1687 4
1688 6
1689 8.6
1690 11.7 D1690N
1691 13
1692 10.8
1693 12.3
1694 13.2
1703 12.4
1706 12.9
1707 14.3
1711 13.1
1712 9.6 G1712S
1713 13.2
1714 8.4
1715 5.1
1716 7.4
1717 9.5
1718 6.7
1719 6
1720 10.2
1721 11.4
1722 14.3 N1722D
1723 14.9 T1723N
1741 14.9 D1741N
1743 14.1 G1743E G1743R G1743R
1744 14.4 S1744I
1752 14.2