A1649V Summary
SCN5A A1649V was found in 2 papers (see below) with a total of 1 carrier: 1 had BrS1, 0 had LQT3, and 0 had other disease. A1649V is not present in gnomAD. A1649V has been functionally characterized in 0 papers. Other variants at the same resdue are A1649D .A1649G .A1649P .A1649S .A1649T .A1649V .
This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A1649V Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
17081365 | 2006 | 0 | 1 | 0 | 0 | |
20877689 | 2010 | 0 | 1 | 0 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A1649V 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 |
-3.73 |
probablydamaging |
1 |
0.1869 |
-1.66 |
-2 |
0.966 |
A1649V has 60 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 |
252 |
14.5 |
|
253 |
12.9 |
|
256 |
12.7 |
|
399 |
14.2 |
|
400 |
14.4 |
G400E G400R G400R |
403 |
9.9 |
|
404 |
12.5 |
|
405 |
14.9 |
|
406 |
12.1 |
N406K N406K N406S |
407 |
9.4 |
|
408 |
13.9 |
|
409 |
14 |
L409V |
410 |
10.7 |
|
411 |
12.6 |
V411M |
414 |
13.1 |
|
1477 |
13.2 |
|
1496 |
14.3 |
|
1500 |
14.1 |
|
1634 |
12.4 |
|
1637 |
13.1 |
|
1640 |
14.5 |
|
1641 |
12.8 |
|
1642 |
10.8 |
|
1643 |
10.1 |
|
1644 |
9.8 |
R1644C R1644H |
1645 |
6.9 |
T1645M |
1646 |
5.7 |
|
1647 |
6.3 |
|
1648 |
4.2 |
|
1650 |
4 |
|
1651 |
5.9 |
|
1652 |
4.2 |
|
1653 |
6 |
|
1654 |
8.5 |
|
1655 |
10.9 |
|
1656 |
11.4 |
|
1657 |
10.8 |
|
1658 |
13.4 |
|
1767 |
12.8 |
Y1767C |
1768 |
13.6 |
I1768V |
1769 |
12.3 |
|
1770 |
9.9 |
|
1771 |
7.7 |
|
1772 |
10.1 |
|
1773 |
10.3 |
|
1774 |
5.6 |
|
1775 |
6.4 |
|
1776 |
9 |
|
1777 |
8.3 |
V1777M |
1778 |
6.7 |
|
1779 |
9.3 |
T1779M |
1780 |
12.6 |
|
1781 |
10.5 |
E1781G |
1782 |
11.9 |
|
1786 |
15 |
L1786Q |
1787 |
11 |
S1787N |
1788 |
10.1 |
|
1789 |
11.8 |
|
1790 |
14.4 |
D1790G D1790N |
1792 |
14.2 |
D1792N |