A1932T Summary

SCN5A A1932T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1932T is not present in gnomAD. A1932T has been functionally characterized in 0 papers. Other variants at the same resdue are A1932E .A1932G .A1932P .A1932S .A1932T .A1932V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1932T 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 0.268

A1932T 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
1917 14.7
1918 14.2
1919 13.7 R1919C R1919H
1920 13.2
1921 12.6
1922 12 K1922N K1922N
1923 11.4
1924 10.7 A1924T
1925 10.1
1926 9.3
1927 8.5
1928 7.6
1929 6.6 R1929C R1929H
1930 5.4
1931 3.8
1933 3.8 G1933A G1933D
1934 5.4
1935 6.6 G1935S
1936 7.6
1937 8.5
1938 9.3 E1938K
1939 10.1
1940 10.7
1941 11.4
1942 12
1943 12.6
1944 13.2 R1944Q
1945 13.7
1946 14.2
1947 14.7