C1703G Summary
SCN5A C1703G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1703G is not present in gnomAD. C1703G has been functionally characterized in 0 papers. Other variants at the same resdue are C1703F .C1703G .C1703R .C1703S .C1703S .C1703W .C1703Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C1703G 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 |
0.96 |
C1703G has 80 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 |
| 331 |
13.6 |
|
| 332 |
14.5 |
A332T |
| 333 |
14.3 |
|
| 374 |
11.1 |
|
| 375 |
9.7 |
|
| 376 |
14 |
R376H |
| 377 |
14.3 |
|
| 378 |
8.4 |
|
| 379 |
8.8 |
|
| 380 |
14.3 |
|
| 381 |
13.9 |
|
| 382 |
10.8 |
|
| 383 |
13.2 |
|
| 386 |
13.5 |
G386E G386R G386R |
| 387 |
11.6 |
|
| 388 |
14.9 |
|
| 390 |
10.9 |
|
| 393 |
12.9 |
|
| 394 |
13.6 |
|
| 1226 |
14.9 |
|
| 1419 |
14.6 |
|
| 1664 |
14 |
|
| 1665 |
13.8 |
|
| 1667 |
13.3 |
V1667I |
| 1668 |
9.2 |
|
| 1669 |
13.6 |
|
| 1670 |
14.2 |
|
| 1671 |
11.9 |
|
| 1672 |
9.3 |
S1672Y |
| 1673 |
13.3 |
|
| 1674 |
14.2 |
F1674V |
| 1675 |
10.9 |
|
| 1676 |
10.7 |
M1676I M1676I M1676I |
| 1677 |
14.7 |
|
| 1678 |
14.5 |
N1678S |
| 1679 |
10.5 |
|
| 1680 |
13.2 |
A1680T |
| 1682 |
13 |
|
| 1684 |
13.7 |
|
| 1685 |
13.9 |
|
| 1686 |
12.4 |
|
| 1687 |
8.8 |
|
| 1688 |
8.6 |
|
| 1689 |
10.3 |
|
| 1690 |
12.3 |
D1690N |
| 1691 |
9.1 |
|
| 1692 |
5.7 |
|
| 1693 |
7.3 |
|
| 1694 |
6.5 |
|
| 1695 |
11.2 |
|
| 1696 |
10.1 |
|
| 1697 |
11.1 |
|
| 1698 |
8.4 |
A1698T |
| 1699 |
6.5 |
|
| 1700 |
5.2 |
|
| 1701 |
7.1 |
M1701I M1701I M1701I |
| 1702 |
4.8 |
|
| 1704 |
4.8 |
|
| 1705 |
7.1 |
|
| 1706 |
5.4 |
|
| 1707 |
6.3 |
|
| 1708 |
9.5 |
|
| 1709 |
11.1 |
T1709M |
| 1710 |
12.1 |
S1710L |
| 1711 |
9.4 |
|
| 1712 |
9.1 |
G1712S |
| 1713 |
10.4 |
|
| 1714 |
13.2 |
|
| 1715 |
10.3 |
|
| 1716 |
7 |
|
| 1717 |
11.6 |
|
| 1718 |
13.8 |
|
| 1719 |
11.9 |
|
| 1720 |
11.9 |
|
| 1748 |
13.7 |
|
| 1751 |
11.3 |
|
| 1752 |
10.3 |
|
| 1755 |
10.8 |
|
| 1756 |
14 |
|
| 1759 |
13.8 |
|