E1253Q Summary
SCN5A E1253Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1253Q is not present in gnomAD. E1253Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1253A .E1253D .E1253D .E1253G .E1253K .E1253Q .E1253V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1253Q 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 |
0.955 |
E1253Q has 54 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 |
| 1206 |
13.4 |
|
| 1207 |
9 |
|
| 1208 |
10.3 |
E1208K |
| 1209 |
12.4 |
|
| 1210 |
10.2 |
F1210S |
| 1211 |
6.6 |
|
| 1212 |
11 |
p.I1212del |
| 1213 |
13.3 |
|
| 1214 |
9.1 |
|
| 1215 |
10.1 |
I1215V |
| 1216 |
14.4 |
|
| 1217 |
14.7 |
|
| 1218 |
13.6 |
S1218I |
| 1242 |
14.6 |
|
| 1243 |
14.7 |
D1243N |
| 1245 |
12.2 |
M1245I M1245I M1245I |
| 1246 |
9.8 |
|
| 1247 |
9.9 |
T1247I |
| 1248 |
11.1 |
|
| 1249 |
5.7 |
|
| 1250 |
5.4 |
|
| 1251 |
6.6 |
V1251M |
| 1252 |
5.1 |
|
| 1254 |
4.9 |
|
| 1255 |
7.7 |
|
| 1256 |
6.3 |
|
| 1257 |
5.7 |
|
| 1258 |
9 |
|
| 1259 |
11.6 |
|
| 1260 |
11.4 |
|
| 1261 |
11.9 |
|
| 1262 |
13.4 |
G1262S |
| 1266 |
10.2 |
|
| 1267 |
13.6 |
|
| 1269 |
14.4 |
N1269S |
| 1271 |
14 |
|
| 1272 |
10.3 |
|
| 1273 |
14.2 |
|
| 1274 |
12.1 |
|
| 1275 |
7.7 |
D1275N |
| 1276 |
11.2 |
|
| 1277 |
13.3 |
|
| 1278 |
10.3 |
I1278N |
| 1279 |
8.9 |
V1279I |
| 1280 |
12.7 |
|
| 1281 |
14.1 |
V1281F |
| 1282 |
11.9 |
|
| 1283 |
13 |
|
| 1306 |
11.5 |
R1306H |
| 1308 |
15 |
L1308F |
| 1309 |
8.7 |
R1309H |
| 1310 |
13.9 |
|
| 1312 |
13.7 |
|
| 1313 |
14.3 |
|