A1805T Summary

SCN5A A1805T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1805T is not present in gnomAD. A1805T has been functionally characterized in 0 papers. Other variants at the same resdue are A1805D .A1805G .A1805P .A1805S .A1805T .A1805V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1805T 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 0.934

A1805T has 32 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
1504 13.5
1505 9.7 K1505N K1505N p.K1505_Q1507del
1506 5.8 P1506S
1507 7.7 p.Q1507_P1509del
1508 7
1509 6.9
1510 11.5
1511 10.9
1585 14
1794 13.5
1795 10.3 p.Y1795_E1796insD Y1795C Y1795H
1796 13.3
1797 13.4
1798 8.3
1799 8.3
1800 12.3
1801 11.6
1802 5
1803 6.6
1804 5.1
1806 4.1
1807 6.1
1808 8.6
1809 11
1810 14.1
1817 14.5
1847 12.4 R1847C R1847H
1848 13.6
1849 10.9 H1849R
1850 10.2
1851 13.4
1853 14.9