A1186V Summary
SCN5A A1186V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1186V is not present in gnomAD. A1186V has been functionally characterized in 0 papers. Other variants at the same resdue are A1186D .A1186G .A1186P .A1186S .A1186T .A1186V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1186V 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 |
0.355 |
A1186V has 30 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 |
1171 |
14.7 |
|
1172 |
14.2 |
|
1173 |
13.7 |
|
1174 |
13.2 |
R1174W |
1175 |
12.6 |
R1175H |
1176 |
12 |
|
1177 |
11.4 |
P1177L |
1178 |
10.7 |
|
1179 |
10.1 |
|
1180 |
9.3 |
A1180V |
1181 |
8.5 |
V1181A V1181L V1181L |
1182 |
7.6 |
|
1183 |
6.6 |
|
1184 |
5.4 |
|
1185 |
3.8 |
|
1187 |
3.8 |
P1187Q |
1188 |
5.4 |
|
1189 |
6.6 |
|
1190 |
7.6 |
V1190F |
1191 |
8.5 |
|
1192 |
9.3 |
|
1193 |
10.1 |
R1193Q R1193W |
1194 |
10.7 |
|
1195 |
11.4 |
R1195H |
1196 |
12 |
|
1197 |
12.6 |
|
1198 |
13.2 |
|
1199 |
13.7 |
|
1200 |
14.2 |
|
1201 |
14.7 |
|