E1240K Summary

SCN5A E1240K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1240K is not present in gnomAD. E1240K has been functionally characterized in 0 papers. Other variants at the same resdue are E1240A .E1240D .E1240D .E1240G .E1240K .E1240Q .E1240V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1240K 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 0.916

E1240K has 49 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 14.8
1218 12 S1218I
1219 14.3
1220 14.2
1221 11.1 A1221V
1222 10.6
1223 14.3
1224 14.2
1225 9.2 E1225K
1226 13
1229 9.7
1230 12.2 E1230K
1233 11.1
1234 10.9
1235 8.7
1236 6.6 K1236R
1237 6.1
1238 7.3
1239 5.1 L1239P
1241 7.3
1242 6.2
1243 5.2 D1243N
1244 7.6
1245 10 M1245I M1245I M1245I
1246 10.8
1247 10.8 T1247I
1248 12.3
1249 14.9
1250 14.6
1281 13.9 V1281F
1282 11.6
1283 14.4
1284 13.5
1285 9.1
1286 11.1
1287 13.9
1288 11.6
1289 9.5
1290 14.5
1291 14.9
1292 14.3
1298 13.4 P1298L
1299 10.6
1300 13.9
1301 11.8
1302 12.8
1303 7.8 R1303Q
1304 13.5 T1304M
1306 11.6 R1306H