K496E Summary

SCN5A K496E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K496E is not present in gnomAD. K496E has been functionally characterized in 0 papers. Other variants at the same resdue are K496E .K496M .K496N .K496N .K496Q .K496R .K496T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

K496E 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 0.607

K496E 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
481 14.7 R481Q R481W
482 14.2
483 13.7
484 13.2
485 12.6
486 12
487 11.4
488 10.7
489 10.1
490 9.3
491 8.5
492 7.6
493 6.6 R493K
494 5.4
495 3.8
497 3.8
498 5.4
499 6.6
500 7.6
501 8.5
502 9.3
503 10.1
504 10.7 R504T
505 11.4
506 12 M506K
507 12.6
508 13.2
509 13.7
510 14.2
511 14.7