A1949D Summary
SCN5A A1949D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1949D is not present in gnomAD. A1949D 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.
A1949D 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 |
0.778 |
A1949D 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 |