E677K Summary

SCN5A E677K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E677K is not present in gnomAD. E677K has been functionally characterized in 0 papers. Other variants at the same resdue are E677A .E677D .E677D .E677G .E677K .E677Q .E677V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E677K 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 0.779

E677K 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
662 14.7 A662S
663 14.2
664 13.7 S664G
665 13.2 A665S A665T
666 12.6
667 12
668 11.4 V668I
669 10.7
670 10.1
671 9.3
672 8.5 A672T
673 7.6
674 6.6
675 5.4
676 3.8
678 3.8
679 5.4
680 6.6 R680C
681 7.6
682 8.5
683 9.3 C683R
684 10.1
685 10.7
686 11.4
687 12
688 12.6
689 13.2 R689C R689H
690 13.7
691 14.2 A691S A691T
692 14.7 Q692K