V713A Summary

SCN5A V713A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V713A is not present in gnomAD. V713A has been functionally characterized in 0 papers. Other variants at the same resdue are V713A .V713E .V713G .V713L .V713L .V713M . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

V713A 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 0.638

V713A has 26 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 4.9
711 7.2
712 5.1
714 4.4 V714A
715 6.6
716 5
717 8.8 P717L
718 8.2
719 5.9
720 9.1
721 11.7
722 10.8
723 11.5 I723V
724 14.8 T724I
759 14.1 I759V
762 11.9
763 9 E763K
764 12.3 M764K
765 12.7
766 9
767 8.5
768 13.2
769 11.8
770 9.1
771 10.7
776 14.3