A1941D Summary
SCN5A A1941D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1941D is not present in gnomAD. A1941D has been functionally characterized in 0 papers. Other variants at the same resdue are A1941D .A1941G .A1941P .A1941S .A1941T .A1941V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1941D 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 |
0.65 |
A1941D 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 |
1926 |
14.7 |
|
1927 |
14.2 |
|
1928 |
13.7 |
|
1929 |
13.2 |
R1929C R1929H |
1930 |
12.6 |
|
1931 |
12 |
|
1932 |
11.4 |
A1932V |
1933 |
10.7 |
G1933A G1933D |
1934 |
10.1 |
|
1935 |
9.3 |
G1935S |
1936 |
8.5 |
|
1937 |
7.6 |
|
1938 |
6.6 |
E1938K |
1939 |
5.4 |
|
1940 |
3.8 |
|
1942 |
3.8 |
|
1943 |
5.4 |
|
1944 |
6.6 |
R1944Q |
1945 |
7.6 |
|
1946 |
8.5 |
|
1947 |
9.3 |
|
1948 |
10.1 |
|
1949 |
10.7 |
A1949T |
1950 |
11.4 |
|
1951 |
12 |
V1951L V1951M |
1952 |
12.6 |
|
1953 |
13.2 |
|
1954 |
13.7 |
E1954K |
1955 |
14.2 |
|
1956 |
14.7 |
|