C726G Summary
SCN5A C726G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C726G is not present in gnomAD. C726G has been functionally characterized in 0 papers. Other variants at the same resdue are C726F .C726G .C726R .C726S .C726S .C726W .C726Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C726G 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 |
0.905 |
C726G has 46 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 |
| 718 |
13.4 |
|
| 719 |
10.3 |
|
| 720 |
10.1 |
|
| 721 |
9 |
|
| 722 |
5.9 |
|
| 723 |
5.4 |
I723V |
| 724 |
6.2 |
T724I |
| 725 |
5.2 |
|
| 727 |
4.9 |
|
| 728 |
6.4 |
V728I |
| 729 |
5.4 |
|
| 730 |
6.9 |
|
| 731 |
9.4 |
|
| 732 |
10.2 |
|
| 733 |
9.6 |
F733L F733L F733L |
| 734 |
12.1 |
|
| 735 |
14.6 |
A735E A735T A735V |
| 748 |
14.7 |
|
| 749 |
14.2 |
|
| 751 |
13.4 |
V751I |
| 752 |
9.9 |
G752R G752R |
| 753 |
11.1 |
|
| 754 |
13.2 |
|
| 755 |
9.4 |
|
| 756 |
5.5 |
|
| 757 |
10.3 |
|
| 758 |
10.4 |
|
| 759 |
7 |
I759V |
| 760 |
7.2 |
|
| 761 |
12.4 |
|
| 762 |
11.9 |
|
| 763 |
10 |
E763K |
| 764 |
12.8 |
M764K |
| 767 |
14.7 |
|
| 785 |
13.2 |
D785N |
| 788 |
13.3 |
|
| 789 |
14.1 |
V789I |
| 792 |
14.7 |
|
| 811 |
13.9 |
R811H |
| 814 |
9.7 |
R814Q |
| 815 |
12.1 |
|
| 817 |
10.4 |
|
| 818 |
10.8 |
|
| 820 |
14.3 |
|
| 821 |
12.3 |
|
| 822 |
14.7 |
|