E678G Summary

SCN5A E678G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E678G is not present in gnomAD. E678G has been functionally characterized in 0 papers. Other variants at the same resdue are E678A .E678D .E678D .E678G .E678K .E678Q .E678V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E678G 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 0.824

E678G 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
663 14.7
664 14.2 S664G
665 13.7 A665S A665T
666 13.2
667 12.6
668 12 V668I
669 11.4
670 10.7
671 10.1
672 9.3 A672T
673 8.5
674 7.6
675 6.6
676 5.4
677 3.8
679 3.8
680 5.4 R680C
681 6.6
682 7.6
683 8.5 C683R
684 9.3
685 10.1
686 10.7
687 11.4
688 12
689 12.6 R689C R689H
690 13.2
691 13.7 A691S A691T
692 14.2 Q692K
693 14.7 R693C R693H