D1940A Summary

SCN5A D1940A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1940A is not present in gnomAD. D1940A has been functionally characterized in 0 papers. Other variants at the same resdue are D1940A .D1940E .D1940E .D1940G .D1940H .D1940N .D1940V .D1940Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1940A 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 0.475

D1940A 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
1925 14.7
1926 14.2
1927 13.7
1928 13.2
1929 12.6 R1929C R1929H
1930 12
1931 11.4
1932 10.7 A1932V
1933 10.1 G1933A G1933D
1934 9.3
1935 8.5 G1935S
1936 7.6
1937 6.6
1938 5.4 E1938K
1939 3.8
1941 3.8
1942 5.4
1943 6.6
1944 7.6 R1944Q
1945 8.5
1946 9.3
1947 10.1
1948 10.7
1949 11.4 A1949T
1950 12
1951 12.6 V1951L V1951M
1952 13.2
1953 13.7
1954 14.2 E1954K
1955 14.7