E171G Summary
SCN5A E171G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E171G is not present in gnomAD. E171G has been functionally characterized in 0 papers. Other variants at the same resdue are E171A .E171D .E171D .E171G .E171K .E171Q .E171V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E171G 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 |
0.978 |
E171G has 60 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 |
| 123 |
14.4 |
A123V |
| 124 |
11.1 |
|
| 125 |
12.5 |
V125L V125L |
| 127 |
10.4 |
|
| 128 |
8.1 |
|
| 129 |
12.2 |
|
| 130 |
13.3 |
|
| 131 |
13.7 |
|
| 132 |
13 |
|
| 133 |
7.3 |
|
| 134 |
8.9 |
|
| 135 |
13 |
|
| 136 |
10.2 |
L136P |
| 137 |
6.4 |
I137V |
| 138 |
10.4 |
|
| 139 |
12.6 |
|
| 140 |
9.9 |
|
| 141 |
10.7 |
I141N I141V |
| 142 |
14.8 |
|
| 143 |
15 |
|
| 144 |
14.2 |
|
| 163 |
12.7 |
|
| 164 |
11.4 |
|
| 165 |
9.8 |
|
| 166 |
8.9 |
A166T |
| 167 |
6.8 |
|
| 168 |
5.8 |
|
| 169 |
6.5 |
|
| 170 |
5.8 |
|
| 172 |
4.6 |
|
| 173 |
7.5 |
|
| 174 |
6.1 |
|
| 175 |
5.3 |
|
| 176 |
9.4 |
|
| 177 |
10.9 |
|
| 178 |
11.1 |
|
| 179 |
12.5 |
R179Q |
| 180 |
13.8 |
|
| 185 |
14.3 |
A185T A185V |
| 188 |
11.1 |
|
| 189 |
14.5 |
|
| 191 |
14.7 |
|
| 193 |
14.4 |
|
| 194 |
10.3 |
|
| 195 |
14.4 |
|
| 196 |
12.3 |
|
| 197 |
7.4 |
|
| 198 |
8.1 |
|
| 199 |
12.4 |
|
| 200 |
11.6 |
|
| 201 |
8.6 |
|
| 202 |
12.5 |
|
| 204 |
13.2 |
|
| 205 |
13.6 |
|
| 222 |
15 |
R222Q |
| 225 |
9.2 |
R225Q R225W |
| 226 |
14.4 |
A226V |
| 228 |
10.9 |
|
| 229 |
14.9 |
|
| 231 |
14.8 |
|