E675V Summary

SCN5A E675V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E675V is not present in gnomAD. E675V has been functionally characterized in 0 papers. Other variants at the same resdue are E675A .E675D .E675D .E675G .E675K .E675Q .E675V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E675V 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 0.752

E675V 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
660 14.7
661 14.2 R661W
662 13.7 A662S
663 13.2
664 12.6 S664G
665 12 A665S A665T
666 11.4
667 10.7
668 10.1 V668I
669 9.3
670 8.5
671 7.6
672 6.6 A672T
673 5.4
674 3.8
676 3.8
677 5.4
678 6.6
679 7.6
680 8.5 R680C
681 9.3
682 10.1
683 10.7 C683R
684 11.4
685 12
686 12.6
687 13.2
688 13.7
689 14.2 R689C R689H
690 14.7