E1225V Summary
SCN5A E1225V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1225V is not present in gnomAD. E1225V has been functionally characterized in 0 papers. Other variants at the same resdue are E1225A .E1225D .E1225D .E1225G .E1225K .E1225Q .E1225V .G1225K .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1225V 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 |
0.99 |
E1225V has 56 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 |
| 1217 |
13.8 |
|
| 1218 |
10.9 |
S1218I |
| 1219 |
10.4 |
|
| 1220 |
9.5 |
|
| 1221 |
7.2 |
A1221V |
| 1222 |
5.7 |
|
| 1223 |
6.7 |
|
| 1224 |
7.2 |
|
| 1226 |
4.2 |
|
| 1227 |
8 |
|
| 1228 |
8.9 |
Y1228C Y1228H |
| 1229 |
5.5 |
|
| 1230 |
9.9 |
E1230K |
| 1231 |
11.5 |
E1231K |
| 1232 |
14.5 |
R1232Q R1232W |
| 1233 |
12.1 |
|
| 1234 |
11.5 |
|
| 1235 |
7.1 |
|
| 1236 |
8.4 |
K1236R |
| 1237 |
11.2 |
|
| 1238 |
10.5 |
|
| 1239 |
6.1 |
L1239P |
| 1240 |
9.2 |
E1240Q |
| 1241 |
14 |
|
| 1242 |
11 |
|
| 1243 |
11.1 |
D1243N |
| 1246 |
14.3 |
|
| 1285 |
14.7 |
|
| 1299 |
13.1 |
|
| 1300 |
12.6 |
|
| 1301 |
9.2 |
|
| 1302 |
13 |
|
| 1303 |
8.1 |
R1303Q |
| 1304 |
10 |
T1304M |
| 1305 |
14.2 |
|
| 1306 |
12 |
R1306H |
| 1307 |
12.7 |
|
| 1669 |
12.5 |
|
| 1670 |
14.3 |
|
| 1672 |
11.3 |
S1672Y |
| 1673 |
8.4 |
|
| 1674 |
12.8 |
F1674V |
| 1675 |
11.8 |
|
| 1676 |
8.4 |
M1676I M1676I M1676I |
| 1677 |
9.1 |
|
| 1678 |
12.9 |
N1678S |
| 1679 |
14.1 |
|
| 1680 |
11.9 |
A1680T |
| 1681 |
13.4 |
Y1681F |
| 1694 |
13.7 |
|
| 1695 |
11.8 |
|
| 1696 |
10.1 |
|
| 1697 |
10.3 |
|
| 1698 |
13.5 |
A1698T |
| 1699 |
14.7 |
|
| 1700 |
13.5 |
|