E491D Summary

SCN5A E491D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E491D is not present in gnomAD. E491D has been functionally characterized in 0 papers. Other variants at the same resdue are E491A .E491D .E491D .E491G .E491K .E491Q .E491V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E491D 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 0.29

E491D 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
476 14.7
477 14.2
478 13.7
479 13.2
480 12.6 K480N K480N
481 12 R481Q R481W
482 11.4
483 10.7
484 10.1
485 9.3
486 8.5
487 7.6
488 6.6
489 5.4
490 3.8
492 3.8
493 5.4 R493K
494 6.6
495 7.6
496 8.5
497 9.3
498 10.1
499 10.7
500 11.4
501 12
502 12.6
503 13.2
504 13.7 R504T
505 14.2
506 14.7 M506K