C145G Summary
SCN5A C145G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C145G is not present in gnomAD. C145G has been functionally characterized in 0 papers. Other variants at the same resdue are C145F .C145G .C145R .C145S .C145S .C145W .C145Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C145G 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 |
0.958 |
C145G has 59 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 |
| 136 |
14.9 |
L136P |
| 137 |
12.7 |
I137V |
| 138 |
10.4 |
|
| 139 |
10.1 |
|
| 140 |
9 |
|
| 141 |
6.5 |
I141N I141V |
| 142 |
5.4 |
|
| 143 |
6.1 |
|
| 144 |
4.4 |
|
| 146 |
4.8 |
V146A V146M |
| 147 |
7.4 |
|
| 148 |
5.1 |
|
| 149 |
7.3 |
|
| 150 |
9.6 |
|
| 151 |
10.1 |
|
| 152 |
13 |
D152N |
| 153 |
14.9 |
|
| 157 |
14.5 |
|
| 160 |
12.6 |
|
| 161 |
12.4 |
E161K |
| 163 |
14.7 |
|
| 164 |
10.3 |
|
| 165 |
14.6 |
|
| 167 |
14.7 |
|
| 168 |
12.5 |
|
| 200 |
13.9 |
|
| 219 |
13.7 |
R219C |
| 220 |
14.3 |
T220I |
| 221 |
14.8 |
|
| 222 |
10.2 |
R222Q |
| 223 |
8.1 |
V223L |
| 224 |
11.2 |
|
| 225 |
9.6 |
R225Q R225W |
| 226 |
6.9 |
A226V |
| 227 |
11 |
L227P |
| 228 |
11.8 |
|
| 229 |
8.9 |
|
| 230 |
12.8 |
I230T I230V |
| 231 |
14.5 |
|
| 232 |
13.7 |
V232I |
| 844 |
13.4 |
|
| 845 |
14.3 |
|
| 847 |
11.5 |
|
| 848 |
9.6 |
I848F |
| 849 |
13.1 |
|
| 850 |
12.4 |
V850M |
| 851 |
6.6 |
F851L F851L F851L |
| 852 |
9.3 |
|
| 853 |
13.8 |
|
| 854 |
11.3 |
|
| 855 |
8.9 |
|
| 856 |
12.7 |
|
| 857 |
14.6 |
G857D |
| 858 |
12.5 |
M858L M858L |
| 859 |
14.2 |
|
| 884 |
10.2 |
|
| 885 |
13.8 |
|
| 887 |
14.3 |
|
| 888 |
13.6 |
|