A1911T Summary

SCN5A A1911T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1911T is not present in gnomAD. A1911T has been functionally characterized in 0 papers. Other variants at the same resdue are A1911D .A1911G .A1911P .A1911S .A1911T .A1911V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1911T 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 0.834

A1911T has 30 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
1896 14.7 L1896P
1897 14.2 R1897Q R1897W
1898 13.7 R1898C R1898H
1899 13.2
1900 12.6
1901 12 E1901K E1901Q
1902 11.4
1903 10.7
1904 10.1 S1904L
1905 9.3
1906 8.5 M1906T
1907 7.6
1908 6.6
1909 5.4
1910 3.8
1912 3.8
1913 5.4 R1913C R1913H R1913S
1914 6.6 R1914G
1915 7.6 H1915Y
1916 8.5
1917 9.3
1918 10.1
1919 10.7 R1919C R1919H
1920 11.4
1921 12
1922 12.6 K1922N K1922N
1923 13.2
1924 13.7 A1924T
1925 14.2
1926 14.7