A1357G Summary
SCN5A A1357G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1357G is not present in gnomAD. A1357G has been functionally characterized in 0 papers. Other variants at the same resdue are A1357E .A1357G .A1357P .A1357S .A1357T .A1357V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1357G 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 |
0.802 |
A1357G 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 |
| 734 |
13.5 |
|
| 735 |
12.4 |
A735E A735T A735V |
| 736 |
11.3 |
|
| 737 |
8.2 |
|
| 738 |
8 |
|
| 739 |
6.3 |
|
| 740 |
9.8 |
|
| 741 |
9.8 |
|
| 742 |
14.4 |
|
| 746 |
14.2 |
E746K |
| 749 |
14.8 |
|
| 805 |
13.5 |
S805L |
| 808 |
11.9 |
R808C |
| 809 |
14 |
|
| 1348 |
14.1 |
|
| 1349 |
10.2 |
|
| 1350 |
10.1 |
|
| 1351 |
10.8 |
|
| 1352 |
6.2 |
|
| 1353 |
4.9 |
V1353M |
| 1354 |
6.9 |
|
| 1355 |
6.3 |
|
| 1356 |
5.6 |
|
| 1358 |
3.9 |
|
| 1359 |
5.4 |
|
| 1360 |
7.9 |
|
| 1361 |
10.6 |
|
| 1362 |
14.2 |
|
| 1395 |
14.1 |
|
| 1397 |
10.9 |
|
| 1398 |
11.8 |
V1398M |
| 1400 |
12.2 |
|
| 1401 |
8.2 |
|
| 1402 |
6.3 |
|
| 1403 |
5 |
|
| 1404 |
8.4 |
|
| 1405 |
10.4 |
V1405L V1405L V1405M |
| 1406 |
12 |
G1406E G1406R G1406R |
| 1407 |
10.3 |
|
| 1408 |
9.8 |
G1408R G1408R |
| 1409 |
15 |
|
| 1410 |
14.7 |
|
| 1411 |
12.5 |
|
| 1412 |
13.2 |
|
| 1424 |
13.2 |
|
| 1427 |
12 |
|
| 1428 |
10.5 |
A1428S A1428V |
| 1429 |
13.7 |
|
| 1430 |
13.4 |
D1430N |
| 1431 |
9.7 |
|
| 1432 |
13.3 |
R1432S R1432S |
| 1433 |
8.7 |
G1433W |
| 1434 |
6.1 |
|
| 1435 |
11.5 |
|
| 1436 |
13.3 |
|
| 1438 |
13.4 |
|
| 1443 |
14.4 |
N1443S |
| 1446 |
13.3 |
|
| 1449 |
12.3 |
Y1449C |
| 1450 |
14.1 |
|