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 |