A1924G Summary

SCN5A A1924G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1924G is not present in gnomAD. A1924G has been functionally characterized in 0 papers. Other variants at the same resdue are A1924D .A1924G .A1924P .A1924S .A1924T .A1924V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1924G 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 0.769

A1924G 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
1909 14.7
1910 14.2
1911 13.7
1912 13.2
1913 12.6 R1913C R1913H R1913S
1914 12 R1914G
1915 11.4 H1915Y
1916 10.7
1917 10.1
1918 9.3
1919 8.5 R1919C R1919H
1920 7.6
1921 6.6
1922 5.4 K1922N K1922N
1923 3.8
1925 3.8
1926 5.4
1927 6.6
1928 7.6
1929 8.5 R1929C R1929H
1930 9.3
1931 10.1
1932 10.7 A1932V
1933 11.4 G1933A G1933D
1934 12
1935 12.6 G1935S
1936 13.2
1937 13.7
1938 14.2 E1938K
1939 14.7