E1208Q Summary
SCN5A E1208Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1208Q is not present in gnomAD. E1208Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1208A .E1208D .E1208D .E1208G .E1208K .E1208Q .E1208V .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
E1208Q 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 |
0.887 |
E1208Q has 32 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 |
7.6 |
|
1207 |
4.1 |
|
1209 |
5.1 |
|
1210 |
8.5 |
F1210S |
1211 |
6.4 |
|
1212 |
7.3 |
p.I1212del |
1213 |
11.5 |
|
1214 |
11.1 |
|
1215 |
11.6 |
I1215V |
1216 |
13.4 |
|
1249 |
13.9 |
|
1250 |
14.3 |
|
1252 |
13.6 |
|
1253 |
10.3 |
|
1254 |
13.9 |
|
1256 |
11.7 |
|
1257 |
9.9 |
|
1260 |
12.6 |
|
1261 |
12 |
|
1266 |
14.4 |
|
1271 |
14 |
|
1272 |
13.2 |
|
1275 |
13.3 |
D1275N |
1309 |
11.9 |
R1309H |
1310 |
13.5 |
|
1312 |
10.5 |
|
1313 |
10 |
|
1314 |
14.3 |
|
1315 |
13.2 |
|
1316 |
7.9 |
R1316Q |
1317 |
14 |
F1317C |
1321 |
14.7 |
|