V710E Summary

SCN5A V710E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V710E is not present in gnomAD. V710E has been functionally characterized in 0 papers. Other variants at the same resdue are V710A .V710E .V710G .V710L .V710L .V710M . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

V710E 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 0.952

V710E has 29 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
711 6
712 6.5
713 4.9
714 6.3 V714A
715 8.9
716 9.7
717 13.5 P717L
718 13.1
719 9.7
720 12.5
722 14.3
723 14.1 I723V
759 14.7 I759V
761 14.3
762 10.7
763 9.2 E763K
764 11.4 M764K
765 10
766 6.1
767 7.6
768 10.3
769 7.5
770 5.5
771 8.5
772 12.1 D772N
773 14.1
775 14.7
776 12.7
782 14.7