E161D Summary
SCN5A E161D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E161D is not present in gnomAD. E161D has been functionally characterized in 0 papers. Other variants at the same resdue are E161A .E161D .E161D .E161G .E161K .E161Q .E161V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E161D 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 |
0.775 |
E161D has 49 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 |
140 |
11.6 |
|
141 |
12.8 |
I141N I141V |
143 |
11.3 |
|
144 |
8.3 |
|
145 |
12.4 |
|
146 |
12.5 |
V146A V146M |
147 |
7 |
|
148 |
9.5 |
|
149 |
12.7 |
|
150 |
12.1 |
|
151 |
9 |
|
152 |
14.6 |
D152N |
153 |
14.6 |
|
154 |
13 |
|
155 |
11.4 |
|
156 |
8.9 |
|
157 |
6.6 |
|
158 |
5.6 |
|
159 |
7.4 |
Y159C |
160 |
4.9 |
|
162 |
5.2 |
|
163 |
7.2 |
|
164 |
6.1 |
|
165 |
7.1 |
|
166 |
10.1 |
A166T |
167 |
11.2 |
|
168 |
10.4 |
|
169 |
13.1 |
|
200 |
13.2 |
|
201 |
12.2 |
|
202 |
14.8 |
|
203 |
13.3 |
|
204 |
8.8 |
|
205 |
12.3 |
|
206 |
12.8 |
|
207 |
9.2 |
|
208 |
8.1 |
|
209 |
13.6 |
|
210 |
12.7 |
|
212 |
13.7 |
|
216 |
14.9 |
S216L |
218 |
12.4 |
|
219 |
9.1 |
R219C |
220 |
14.1 |
T220I |
222 |
7.8 |
R222Q |
223 |
12.9 |
V223L |
225 |
13.2 |
R225Q R225W |
855 |
14.6 |
|
859 |
13.5 |
|