C906G Summary
SCN5A C906G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C906G is not present in gnomAD. C906G has been functionally characterized in 0 papers. Other variants at the same resdue are C906F .C906G .C906R .C906S .C906S .C906W .C906Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C906G 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 |
0.943 |
C906G has 65 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 |
| 349 |
14.1 |
D349N |
| 350 |
10.2 |
|
| 351 |
13.6 |
G351S G351V |
| 352 |
11 |
|
| 360 |
13.9 |
|
| 363 |
13.5 |
|
| 853 |
14.1 |
|
| 854 |
13.4 |
|
| 856 |
12.8 |
|
| 857 |
9.7 |
G857D |
| 858 |
12.9 |
M858L M858L |
| 859 |
13.6 |
|
| 860 |
9.7 |
|
| 861 |
6.2 |
|
| 862 |
9.3 |
|
| 863 |
12.1 |
|
| 864 |
8.4 |
|
| 865 |
7.1 |
|
| 866 |
13 |
S866L |
| 867 |
13 |
|
| 868 |
11.2 |
|
| 869 |
14.5 |
|
| 870 |
13.7 |
|
| 871 |
11.7 |
|
| 872 |
15 |
D872N |
| 875 |
14.6 |
|
| 876 |
12.6 |
|
| 877 |
10.5 |
|
| 878 |
14.5 |
R878C R878H |
| 879 |
12.4 |
W879R W879R |
| 880 |
10.7 |
|
| 881 |
8 |
|
| 882 |
12.9 |
|
| 886 |
13.8 |
H886P H886Q H886Q |
| 887 |
12 |
|
| 889 |
14.9 |
|
| 890 |
9.9 |
I890T |
| 891 |
12.2 |
|
| 893 |
12.8 |
R893C R893H |
| 894 |
12.1 |
|
| 898 |
14.4 |
|
| 899 |
11.4 |
|
| 900 |
10.1 |
|
| 901 |
9.9 |
E901K |
| 902 |
6.3 |
|
| 903 |
6.1 |
|
| 904 |
8 |
|
| 905 |
5.4 |
|
| 907 |
4.8 |
|
| 908 |
6.6 |
|
| 909 |
5.6 |
|
| 910 |
5.4 |
S910L |
| 911 |
7.4 |
|
| 912 |
8.3 |
Q912R |
| 913 |
8.5 |
|
| 914 |
8.3 |
|
| 915 |
4.4 |
|
| 916 |
8.8 |
|
| 917 |
11.2 |
|
| 918 |
9.3 |
|
| 919 |
7.6 |
|
| 920 |
12.3 |
|
| 921 |
14.1 |
|
| 922 |
13.4 |
|
| 923 |
14.9 |
|