A1497T Summary

SCN5A A1497T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1497T is not present in gnomAD. A1497T has been functionally characterized in 0 papers. Other variants at the same resdue are A1497D .A1497G .A1497P .A1497S .A1497T .A1497V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

A1497T 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 0.898

A1497T has 58 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
1481 13.2
1482 13.9
1483 14.5
1488 14.9
1489 13.6 E1489D E1489D
1490 12.4
1491 10.1
1492 8.8
1493 8.1 K1493R p.K1493del
1494 5.9
1495 6.8
1496 4.7
1498 4.3 M1498R M1498T
1499 6.4
1500 4.4
1501 5.6 L1501V
1502 8.6 G1502A G1502S
1503 9.3
1504 10.5
1648 14.5
1652 14.8
1777 12.3 V1777M
1778 12.5
1779 14.9 T1779M
1780 13.3
1781 8.3 E1781G
1782 12.3
1783 12.8
1784 10.5 E1784K
1785 7.6
1786 6.9 L1786Q
1787 9.2 S1787N
1788 9.9
1789 13.5
1790 10.8 D1790G D1790N
1791 7.7
1792 13.1 D1792N
1794 13.1
1795 13.9 p.Y1795_E1796insD Y1795C Y1795H
1824 13.3
1825 12.5 L1825P
1850 14.7
1851 12.2
1852 14.8
1853 14.3
1854 9.7
1855 9.6
1856 12.1
1857 13.1
1858 7.5
1859 10.7
1860 14.9
1861 10.7
1862 9.3
1863 14
1865 13.8
1874 14.3
1876 11.9