A1656D Summary

SCN5A A1656D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1656D is not present in gnomAD. A1656D has been functionally characterized in 0 papers. Other variants at the same resdue are A1656D .A1656G .A1656P .A1656S .A1656T .A1656V . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1656D 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 0.968

A1656D has 55 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
398 11.2
399 12.7
402 12.6 F402L F402L F402L
403 10.7
406 13.8 N406K N406K N406S
1314 12
1315 13.1
1317 9.8 F1317C
1318 9.5
1319 6.3 G1319V
1320 7.8 M1320I M1320I M1320I
1321 11.8
1322 8.1
1323 7.6
1324 11.7
1325 13.2 N1325S
1326 12.3
1327 13.7
1469 14.2
1470 14.5
1473 10.2 F1473C
1474 14.8
1476 12.5 Q1476R
1477 10.6
1480 12.4
1648 13.6
1649 11.4
1650 10.7
1651 11.4
1652 9.2
1653 5.5
1654 6.5
1655 3.9
1657 4
1658 5.8
1659 4.7
1660 6.3 I1660V
1661 8.6 G1661R G1661R
1662 9.4
1663 10.7
1664 12
1763 11.8 V1763M
1764 12.9
1765 14
1766 9.8 M1766T M1766V
1767 7.8 Y1767C
1768 11.8 I1768V
1769 10.1
1770 6.1
1771 9.4
1772 12.8
1773 11.8
1774 9.4
1775 14.9
1777 14.7 V1777M