A819V Summary
SCN5A A819V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A819V is not present in gnomAD. A819V has been functionally characterized in 0 papers. Other variants at the same resdue are A819D .A819G .A819P .A819S .A819T .A819V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A819V 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 |
0.891 |
A819V has 46 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 |
720 |
12.6 |
|
721 |
14.6 |
|
723 |
12.9 |
I723V |
724 |
10.5 |
T724I |
727 |
10.7 |
|
728 |
12.6 |
V728I |
731 |
13.2 |
|
779 |
14.3 |
Q779K |
780 |
11.9 |
|
781 |
7.5 |
|
782 |
13.5 |
|
783 |
14.7 |
|
784 |
9.9 |
|
785 |
11.7 |
D785N |
788 |
13.6 |
|
812 |
13.1 |
|
813 |
11.6 |
|
814 |
12.6 |
R814Q |
815 |
8.2 |
|
816 |
6.7 |
F816Y |
817 |
6.5 |
|
818 |
4.9 |
|
820 |
5.4 |
|
821 |
5.3 |
|
822 |
6.4 |
|
823 |
7.4 |
|
824 |
8 |
|
825 |
4.4 |
|
826 |
5.3 |
|
827 |
9.4 |
|
828 |
8.7 |
|
829 |
7.1 |
|
830 |
11.1 |
|
831 |
13 |
|
832 |
11.8 |
|
833 |
13.4 |
G833R G833R |
1336 |
13.7 |
|
1337 |
14.5 |
|
1339 |
10.9 |
p.L1339del |
1340 |
10.2 |
V1340I |
1341 |
13.9 |
|
1342 |
13.8 |
|
1343 |
9.4 |
|
1344 |
10.4 |
|
1346 |
13.8 |
L1346P |
1347 |
12.2 |
|