A1326S Summary
SCN5A A1326S was found in 1 paper (see below) with a total of 1 carrier: 0 had BrS1, 1 had LQT3, and 0 had other disease. A1326S is not present in gnomAD. A1326S has been functionally characterized in 0 papers. Other variants at the same resdue are A1326D .A1326G .A1326P .A1326S .A1326T .A1326V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
A1326S Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
19716085 | 2009 | 0 | 0 | 1 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A1326S 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 |
-2.92 |
probablydamaging |
0.994 |
0.1704 |
0.53 |
0 |
0.94 |
A1326S has 61 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 |
1271 |
14.3 |
|
1311 |
14.2 |
|
1312 |
14.5 |
|
1314 |
13.5 |
|
1315 |
11.4 |
|
1317 |
14.7 |
F1317C |
1318 |
14.6 |
|
1319 |
10.9 |
G1319V |
1320 |
9.6 |
M1320I M1320I M1320I |
1321 |
11.3 |
|
1322 |
6.5 |
|
1323 |
5.6 |
|
1324 |
5.6 |
|
1325 |
4.8 |
N1325S |
1327 |
4.5 |
|
1328 |
5.6 |
|
1329 |
5.2 |
G1329S |
1330 |
5.8 |
A1330T |
1331 |
8.6 |
|
1332 |
10.1 |
P1332L |
1333 |
10.4 |
|
1334 |
10.7 |
I1334V |
1335 |
13.9 |
M1335R |
1465 |
13.3 |
|
1466 |
12.6 |
|
1467 |
12.6 |
|
1468 |
10.2 |
|
1469 |
7.6 |
|
1470 |
10.5 |
|
1471 |
10.7 |
|
1472 |
6.1 |
p.N1472del |
1473 |
5.7 |
F1473C |
1474 |
10.7 |
|
1475 |
9.6 |
|
1476 |
6.1 |
Q1476R |
1477 |
10 |
|
1478 |
12.8 |
|
1479 |
9.7 |
|
1480 |
11.5 |
|
1656 |
12.3 |
|
1657 |
13.9 |
|
1659 |
12.6 |
|
1660 |
10.9 |
I1660V |
1661 |
14.9 |
G1661R G1661R |
1663 |
11.6 |
|
1664 |
14.8 |
|
1757 |
14.4 |
|
1758 |
12.7 |
p.I1758del |
1759 |
14.4 |
|
1761 |
14.2 |
L1761H |
1762 |
9.6 |
I1762M |
1763 |
10.1 |
V1763M |
1764 |
13.4 |
|
1765 |
11.8 |
|
1766 |
7.1 |
M1766T M1766V |
1767 |
13.4 |
Y1767C |
1768 |
13.2 |
I1768V |
1769 |
10.3 |
|
1770 |
10.8 |
|
1772 |
14.9 |
|
1773 |
12.6 |
|