E1436Q Summary

SCN5A E1436Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1436Q is not present in gnomAD. E1436Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1436A .E1436D .E1436D .E1436G .E1436K .E1436Q .E1436V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1436Q 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 0.513

E1436Q has 40 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
739 14.4
1355 14.2
1356 14
1357 13.3 A1357V
1358 10.4
1359 9.3
1360 12.7
1361 9.2
1362 11.6
1363 11.2
1364 14.9
1380 13.6 N1380K N1380K p.N1380del
1381 14.2
1382 12.8 S1382I
1383 11.5
1384 11.3
1385 13.3
1386 9.2
1387 6
1388 5.6
1389 9.4
1390 11.5
1391 13.8 G1391R G1391R
1395 9.8
1396 14.3
1397 15
1427 13.8
1428 13.7 A1428S A1428V
1429 13.9
1430 10.9 D1430N
1431 8.9
1432 5.2 R1432S R1432S
1433 5.1 G1433W
1434 7.9
1435 5.3
1437 6.2
1438 7.4
1439 8.9
1442 10.6
1443 11.9 N1443S