E1435V Summary

SCN5A E1435V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1435V is not present in gnomAD. E1435V has been functionally characterized in 0 papers. Other variants at the same resdue are E1435A .E1435D .E1435D .E1435G .E1435K .E1435Q .E1435V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1435V 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 0.921

E1435V 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
738 14.8
739 10.6
740 12.1
741 13.2
1355 14.2
1356 14.2
1357 11.5 A1357V
1358 8.3
1359 9.4
1360 13
1361 9.4
1362 13.4
1363 12.6
1386 12.3
1387 10.1
1388 6.3
1389 8.5
1390 12.3
1391 13.7 G1391R G1391R
1395 9
1396 13.8
1397 13.5
1403 13.7
1430 14.2 D1430N
1431 11.4
1432 9.7 R1432S R1432S
1433 6.5 G1433W
1434 6.4
1436 5.3
1437 9.7
1438 10.8
1439 13.7