A1932V Summary
SCN5A A1932V was found in 1 paper (see below) with a total of 11 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1932V is present in 10 out of 249044 alleles in gnomAD (minor allele frequency of 0.004015%). A1932V has been functionally characterized in 0 papers. Other variants at the same resdue are A1932E .A1932G .A1932P .A1932S .A1932T .A1932V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1932V Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
15996170 | 2005 | 1 | 0 | 0 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A1932V 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 |
Tolerated |
0.151 |
-1.19 |
benign |
0.001 |
2.843 |
-1.18 |
-2 |
0.249 |
A1932V 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 |
1917 |
14.7 |
|
1918 |
14.2 |
|
1919 |
13.7 |
R1919C R1919H |
1920 |
13.2 |
|
1921 |
12.6 |
|
1922 |
12 |
K1922N K1922N |
1923 |
11.4 |
|
1924 |
10.7 |
A1924T |
1925 |
10.1 |
|
1926 |
9.3 |
|
1927 |
8.5 |
|
1928 |
7.6 |
|
1929 |
6.6 |
R1929C R1929H |
1930 |
5.4 |
|
1931 |
3.8 |
|
1933 |
3.8 |
G1933A G1933D |
1934 |
5.4 |
|
1935 |
6.6 |
G1935S |
1936 |
7.6 |
|
1937 |
8.5 |
|
1938 |
9.3 |
E1938K |
1939 |
10.1 |
|
1940 |
10.7 |
|
1941 |
11.4 |
|
1942 |
12 |
|
1943 |
12.6 |
|
1944 |
13.2 |
R1944Q |
1945 |
13.7 |
|
1946 |
14.2 |
|
1947 |
14.7 |
|