E488D Summary

SCN5A E488D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E488D is not present in gnomAD. E488D has been functionally characterized in 0 papers. Other variants at the same resdue are E488A .E488D .E488D .E488G .E488K .E488Q .E488V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E488D 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 0.283

E488D 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
473 14.7
474 14.2 R474K
475 13.7 R475K R475S R475S
476 13.2
477 12.6
478 12
479 11.4
480 10.7 K480N K480N
481 10.1 R481Q R481W
482 9.3
483 8.5
484 7.6
485 6.6
486 5.4
487 3.8
489 3.8
490 5.4
491 6.6
492 7.6
493 8.5 R493K
494 9.3
495 10.1
496 10.7
497 11.4
498 12
499 12.6
500 13.2
501 13.7
502 14.2
503 14.7