A1711G Summary
SCN5A A1711G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1711G is not present in gnomAD. A1711G has been functionally characterized in 0 papers. Other variants at the same resdue are A1711D .A1711G .A1711P .A1711S .A1711T .A1711V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1711G 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 |
0.847 |
A1711G has 72 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 |
| 367 |
12.1 |
R367C R367H |
| 368 |
11.9 |
|
| 370 |
12.3 |
T370M |
| 371 |
8.4 |
Q371E |
| 372 |
9.6 |
|
| 373 |
7.7 |
|
| 374 |
6.3 |
|
| 375 |
5.5 |
|
| 376 |
10.6 |
R376H |
| 377 |
11.5 |
|
| 378 |
9.7 |
|
| 379 |
10.2 |
|
| 380 |
14.1 |
|
| 382 |
14.6 |
|
| 393 |
12.5 |
|
| 394 |
14.5 |
|
| 397 |
11.6 |
I397V |
| 401 |
13.9 |
|
| 402 |
13.5 |
F402L F402L F402L |
| 893 |
14.6 |
R893C R893H |
| 896 |
14.4 |
|
| 897 |
12 |
|
| 898 |
11.2 |
|
| 899 |
14.7 |
|
| 900 |
14.3 |
|
| 901 |
14.9 |
E901K |
| 1413 |
13.5 |
|
| 1414 |
10.6 |
|
| 1415 |
13.7 |
|
| 1416 |
12.9 |
|
| 1417 |
9.2 |
|
| 1418 |
10.7 |
|
| 1419 |
6.1 |
|
| 1420 |
10.6 |
G1420R G1420V |
| 1421 |
12.5 |
|
| 1422 |
14.3 |
|
| 1423 |
15 |
|
| 1664 |
14.6 |
|
| 1668 |
13.4 |
|
| 1686 |
13.1 |
|
| 1687 |
11.1 |
|
| 1688 |
13.7 |
|
| 1692 |
12.1 |
|
| 1694 |
14.8 |
|
| 1700 |
14 |
|
| 1701 |
14.1 |
M1701I M1701I M1701I |
| 1702 |
11.9 |
|
| 1703 |
9.4 |
|
| 1704 |
9.8 |
|
| 1705 |
9.7 |
|
| 1706 |
4.8 |
|
| 1707 |
5.9 |
|
| 1708 |
7.7 |
|
| 1709 |
5.3 |
T1709M |
| 1710 |
4.1 |
S1710L |
| 1712 |
3.8 |
G1712S |
| 1713 |
5.4 |
|
| 1714 |
9.4 |
|
| 1715 |
9 |
|
| 1716 |
8.4 |
|
| 1717 |
11.1 |
|
| 1718 |
13.8 |
|
| 1719 |
14.4 |
|
| 1751 |
14.3 |
|
| 1752 |
10.6 |
|
| 1753 |
14.2 |
|
| 1755 |
10.9 |
|
| 1756 |
10.5 |
|
| 1759 |
11.4 |
|
| 1760 |
9.7 |
|
| 1761 |
13.7 |
L1761H |
| 1764 |
12.9 |
|