A413V Summary
SCN5A A413V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A413V is not present in gnomAD. A413V has been functionally characterized in 0 papers. Other variants at the same resdue are A413E .A413G .A413P .A413S .A413T .A413V .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
A413V 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 |
0.932 |
A413V has 72 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 |
238 |
12.7 |
|
239 |
12.1 |
I239V I239V |
240 |
14.7 |
V240M |
241 |
12.4 |
|
242 |
9.3 |
|
243 |
11.5 |
|
244 |
13.7 |
|
245 |
11.1 |
Q245K |
246 |
8.5 |
|
247 |
12.6 |
V247L V247L |
248 |
14.6 |
|
249 |
10.2 |
|
250 |
11.6 |
|
253 |
14 |
|
404 |
14.8 |
|
405 |
12.7 |
|
406 |
10.9 |
N406K N406K N406S |
407 |
10.5 |
|
408 |
9.4 |
|
409 |
6.1 |
L409V |
410 |
5.2 |
|
411 |
5.9 |
V411M |
412 |
4.1 |
|
414 |
4.9 |
|
415 |
5.3 |
|
416 |
6.1 |
Y416C |
417 |
6.5 |
|
418 |
8.7 |
|
419 |
10.6 |
|
420 |
10.1 |
|
421 |
11.7 |
|
422 |
13.9 |
|
838 |
15 |
|
842 |
13.6 |
|
926 |
15 |
|
927 |
14.3 |
N927S |
928 |
12.3 |
|
929 |
10.3 |
|
930 |
11.7 |
|
931 |
12.4 |
|
932 |
8.2 |
|
933 |
7.5 |
|
934 |
11.3 |
|
935 |
8.3 |
|
936 |
5.4 |
|
937 |
9.7 |
|
938 |
10.9 |
|
939 |
7.8 |
|
940 |
9.4 |
|
941 |
12.6 |
S941N |
942 |
14.2 |
|
943 |
13.6 |
|
1463 |
13.7 |
|
1466 |
12.1 |
|
1467 |
11.9 |
|
1470 |
10.7 |
|
1471 |
13 |
|
1474 |
14 |
|
1646 |
13.8 |
|
1768 |
11.9 |
I1768V |
1769 |
12 |
|
1770 |
14.6 |
|
1771 |
11.8 |
|
1772 |
7.8 |
|
1773 |
10.7 |
|
1774 |
13.3 |
|
1775 |
8.8 |
|
1776 |
8.9 |
|
1777 |
12.9 |
V1777M |
1778 |
13.3 |
|
1779 |
10.6 |
T1779M |
1780 |
11.9 |
|