A1656V Summary
SCN5A A1656V was found in 2 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 3 had other disease. A1656V is not present in gnomAD. A1656V has been functionally characterized in 0 papers. Other variants at the same resdue are A1656D .A1656G .A1656P .A1656S .A1656T .A1656V .
This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A1656V Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
29907895 | 2018 | 0 | 0 | 0 | 1 | SIDS |
29907895 | 2018 | 0 | 0 | 0 | 2 | SIDS |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A1656V 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 |
Damaging |
0.022 |
-3.67 |
probablydamaging |
1 |
0.1038 |
-3.66 |
-2 |
0.941 |
A1656V has 55 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 |
398 |
11.2 |
|
399 |
12.7 |
|
402 |
12.6 |
F402L F402L F402L |
403 |
10.7 |
|
406 |
13.8 |
N406K N406K N406S |
1314 |
12 |
|
1315 |
13.1 |
|
1317 |
9.8 |
F1317C |
1318 |
9.5 |
|
1319 |
6.3 |
G1319V |
1320 |
7.8 |
M1320I M1320I M1320I |
1321 |
11.8 |
|
1322 |
8.1 |
|
1323 |
7.6 |
|
1324 |
11.7 |
|
1325 |
13.2 |
N1325S |
1326 |
12.3 |
|
1327 |
13.7 |
|
1469 |
14.2 |
|
1470 |
14.5 |
|
1473 |
10.2 |
F1473C |
1474 |
14.8 |
|
1476 |
12.5 |
Q1476R |
1477 |
10.6 |
|
1480 |
12.4 |
|
1648 |
13.6 |
|
1649 |
11.4 |
|
1650 |
10.7 |
|
1651 |
11.4 |
|
1652 |
9.2 |
|
1653 |
5.5 |
|
1654 |
6.5 |
|
1655 |
3.9 |
|
1657 |
4 |
|
1658 |
5.8 |
|
1659 |
4.7 |
|
1660 |
6.3 |
I1660V |
1661 |
8.6 |
G1661R G1661R |
1662 |
9.4 |
|
1663 |
10.7 |
|
1664 |
12 |
|
1763 |
11.8 |
V1763M |
1764 |
12.9 |
|
1765 |
14 |
|
1766 |
9.8 |
M1766T M1766V |
1767 |
7.8 |
Y1767C |
1768 |
11.8 |
I1768V |
1769 |
10.1 |
|
1770 |
6.1 |
|
1771 |
9.4 |
|
1772 |
12.8 |
|
1773 |
11.8 |
|
1774 |
9.4 |
|
1775 |
14.9 |
|
1777 |
14.7 |
V1777M |