A1949G Summary

SCN5A A1949G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1949G is not present in gnomAD. A1949G has been functionally characterized in 0 papers. Other variants at the same resdue are A1949D .A1949G .A1949P .A1949S .A1949T .A1949V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1949G 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 0.799

A1949G 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
1934 14.7
1935 14.2 G1935S
1936 13.7
1937 13.2
1938 12.6 E1938K
1939 12
1940 11.4
1941 10.7
1942 10.1
1943 9.3
1944 8.5 R1944Q
1945 7.6
1946 6.6
1947 5.4
1948 3.8
1950 3.8
1951 5.4 V1951L V1951M
1952 6.6
1953 7.6
1954 8.5 E1954K
1955 9.3
1956 10.1
1957 10.7
1958 11.4 R1958Q
1959 12
1960 12.6
1961 13.2
1962 13.7 P1962L
1963 14.2 P1963L
1964 14.7 S1964F