A1649T Summary

SCN5A A1649T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1649T is not present in gnomAD. A1649T has been functionally characterized in 0 papers. Other variants at the same resdue are A1649D .A1649G .A1649P .A1649S .A1649T .A1649V . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1649T 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 0.956

A1649T has 60 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
252 14.5
253 12.9
256 12.7
399 14.2
400 14.4 G400E G400R G400R
403 9.9
404 12.5
405 14.9
406 12.1 N406K N406K N406S
407 9.4
408 13.9
409 14 L409V
410 10.7
411 12.6 V411M
414 13.1
1477 13.2
1496 14.3
1500 14.1
1634 12.4
1637 13.1
1640 14.5
1641 12.8
1642 10.8
1643 10.1
1644 9.8 R1644C R1644H
1645 6.9 T1645M
1646 5.7
1647 6.3
1648 4.2
1650 4
1651 5.9
1652 4.2
1653 6
1654 8.5
1655 10.9
1656 11.4
1657 10.8
1658 13.4
1767 12.8 Y1767C
1768 13.6 I1768V
1769 12.3
1770 9.9
1771 7.7
1772 10.1
1773 10.3
1774 5.6
1775 6.4
1776 9
1777 8.3 V1777M
1778 6.7
1779 9.3 T1779M
1780 12.6
1781 10.5 E1781G
1782 11.9
1786 15 L1786Q
1787 11 S1787N
1788 10.1
1789 11.8
1790 14.4 D1790G D1790N
1792 14.2 D1792N