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 |
|