A166P Summary
SCN5A A166P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A166P is not present in gnomAD. A166P has been functionally characterized in 0 papers. Other variants at the same resdue are A166D .A166G .A166P .A166S .A166T .A166V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A166P 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 |
0.947 |
A166P has 40 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 |
133 |
13.1 |
|
136 |
13 |
L136P |
137 |
11.1 |
I137V |
139 |
14.7 |
|
140 |
10.4 |
|
141 |
13.1 |
I141N I141V |
143 |
13.9 |
|
144 |
12.9 |
|
147 |
14.6 |
|
157 |
14.7 |
|
158 |
13.6 |
|
159 |
12.1 |
Y159C |
160 |
10.1 |
|
161 |
10.1 |
E161K |
162 |
8.1 |
|
163 |
5.4 |
|
164 |
7.2 |
|
165 |
4.1 |
|
167 |
4.1 |
|
168 |
6.3 |
|
169 |
4.9 |
|
170 |
7.1 |
|
171 |
8.9 |
|
172 |
9.7 |
|
173 |
10.7 |
|
174 |
12.2 |
|
175 |
13.6 |
|
197 |
13.8 |
|
198 |
13.5 |
|
200 |
13.5 |
|
201 |
9.7 |
|
202 |
13 |
|
204 |
10.5 |
|
205 |
10 |
|
206 |
14.1 |
|
207 |
13.5 |
|
208 |
10 |
|
209 |
14.5 |
|
222 |
13.3 |
R222Q |
225 |
12.8 |
R225Q R225W |