E763V Summary

SCN5A E763V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E763V is not present in gnomAD. E763V has been functionally characterized in 0 papers. Other variants at the same resdue are E763A .E763D .E763D .E763G .E763K .E763Q .E763V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E763V 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 0.98

E763V has 50 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
710 9.2
711 13.4
712 13.8
713 9
714 8.8 V714A
715 13.7
716 11.4
717 13.8 P717L
718 12.8
719 7.1
720 8.6
721 12
722 8.8
723 6.9 I723V
724 11.6 T724I
725 12.8
726 10
727 11.8
730 14.5
755 12.2
756 11.1
757 10.6
758 8.3
759 6.2 I759V
760 6.7
761 6.9
762 4.1
764 5.2 M764K
765 6.9
766 5.8
767 5.9
768 9.7
769 10.6
770 10.7
771 11.6
776 11.4
777 15
781 14.7
782 11.5
784 14.1
785 9.8 D785N
786 11.8
788 12.2
789 10.5 V789I
790 14.6
792 14.1
793 14.5
814 12.9 R814Q
817 11.8
820 14.4