E500K Summary

SCN5A E500K was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E500K is present in 1 out of 248810 alleles in gnomAD (minor allele frequency of 0.000402%). E500K has been functionally characterized in 0 papers. Other variants at the same resdue are E500A .E500D .E500D .E500G .E500K .E500Q .E500V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E500K 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
Tolerated 0.078 -2.55 possiblydamaging 0.643 2.582 -0.13 -4 0.506

E500K 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
485 14.7
486 14.2
487 13.7
488 13.2
489 12.6
490 12
491 11.4
492 10.7
493 10.1 R493K
494 9.3
495 8.5
496 7.6
497 6.6
498 5.4
499 3.8
501 3.8
502 5.4
503 6.6
504 7.6 R504T
505 8.5
506 9.3 M506K
507 10.1
508 10.7
509 11.4
510 12
511 12.6
512 13.2 T512I
513 13.7 R513C
514 14.2 G514C
515 14.7