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 |
|