D197E Summary
SCN5A D197E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D197E is not present in gnomAD. D197E has been functionally characterized in 0 papers. Other variants at the same resdue are D197A .D197E .D197E .D197G .D197H .D197N .D197V .D197Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D197E 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 |
0.812 |
D197E 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 |
| 128 |
12.3 |
|
| 133 |
12.9 |
|
| 134 |
12 |
|
| 136 |
15 |
L136P |
| 137 |
9.9 |
I137V |
| 138 |
10.8 |
|
| 140 |
12.6 |
|
| 141 |
10.3 |
I141N I141V |
| 142 |
14.7 |
|
| 144 |
13.9 |
|
| 164 |
13.9 |
|
| 165 |
12.4 |
|
| 166 |
13.8 |
A166T |
| 167 |
12.2 |
|
| 168 |
8.4 |
|
| 169 |
10.9 |
|
| 170 |
13 |
|
| 171 |
7.4 |
|
| 172 |
8.1 |
|
| 173 |
12.5 |
|
| 174 |
11.8 |
|
| 175 |
7.7 |
|
| 176 |
11.3 |
|
| 178 |
14.2 |
|
| 179 |
13.7 |
R179Q |
| 180 |
14.8 |
|
| 184 |
14.9 |
|
| 185 |
12.3 |
A185T A185V |
| 186 |
14.9 |
|
| 187 |
12.5 |
T187S T187S |
| 188 |
8.6 |
|
| 189 |
9.6 |
|
| 190 |
14.3 |
R190G R190L R190Q R190W |
| 191 |
9.1 |
|
| 192 |
9 |
|
| 193 |
7.9 |
|
| 194 |
5 |
|
| 195 |
7.6 |
|
| 196 |
5 |
|
| 198 |
4.7 |
|
| 199 |
6.9 |
|
| 200 |
6.8 |
|
| 201 |
6.9 |
|
| 202 |
9.9 |
|
| 203 |
11.3 |
|
| 204 |
11.9 |
|
| 205 |
14.1 |
|
| 221 |
13.4 |
|
| 222 |
12.5 |
R222Q |
| 223 |
12.3 |
V223L |
| 224 |
9.6 |
|
| 225 |
5.8 |
R225Q R225W |
| 226 |
10.3 |
A226V |
| 227 |
9.6 |
L227P |
| 228 |
6.8 |
|
| 229 |
12 |
|
| 230 |
13.1 |
I230T I230V |
| 231 |
12 |
|
| 232 |
14.8 |
V232I |