A1640D Summary

SCN5A A1640D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1640D is not present in gnomAD. A1640D has been functionally characterized in 0 papers. Other variants at the same resdue are A1640D .A1640G .A1640P .A1640S .A1640T .A1640V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1640D 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 0.962

A1640D has 35 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
249 13.1
250 13.7
251 10.8
252 7.1
253 11.2
254 13.7
255 10
256 11
257 14.8
259 14.1
1633 11.9
1634 11.4
1635 13.8
1636 10.2
1637 6
1638 8.5 R1638Q
1639 3.4 G1639A
1641 5
1642 5.2
1643 5.7
1644 7.2 R1644C R1644H
1645 8.4 T1645M
1646 10
1647 10.2
1648 13.4
1649 14.5
1778 14.8
1779 14.5 T1779M
1782 13.4
1787 13.6 S1787N
1789 11.1
1790 13.6 D1790G D1790N
1793 14.1 M1793K
1822 14.4
1823 14.4 E1823K