E1368V Summary

SCN5A E1368V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1368V is not present in gnomAD. E1368V has been functionally characterized in 0 papers. Other variants at the same resdue are E1368A .E1368D .E1368D .E1368G .E1368K .E1368Q .E1368V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1368V 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 0.693

E1368V 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
1353 14.7 V1353M
1354 14.2
1355 13.7
1356 13.2
1357 12.6 A1357V
1358 12
1359 11.4
1360 10.7
1361 10.1
1362 9.3
1363 8.5
1364 7.6
1365 6.6
1366 5.4
1367 3.8
1369 3.8
1370 5.4 D1370G
1371 6.6
1372 7.6
1373 8.5
1374 9.3
1375 10.1
1376 10.7
1377 11.4
1378 12 V1378M
1379 12.6
1380 13.2 N1380K N1380K p.N1380del
1381 13.7
1382 14.2 S1382I
1383 14.7