G752V Summary

SCN5A G752V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. G752V is not present in gnomAD. G752V has been functionally characterized in 0 papers. Other variants at the same resdue are G752A .G752E .G752R .G752R .G752V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

G752V 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 0.945

G752V has 44 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
723 14.5 I723V
725 14.3
726 9.9
727 11.9
728 12.5 V728I
729 8.9
730 7.3
731 11.2
732 10.9
733 6.1 F733L F733L F733L
734 9.9
735 12.6 A735E A735T A735V
736 12
737 12
741 14.2
743 14.4
744 13.8
745 11.5
746 11.6 E746K
747 8.9
748 6.9
749 6
750 6.2
751 3.9 V751I
753 3.7
754 5.5
755 4.9
756 5
757 7.8
758 9.5
759 9.7 I759V
760 10.6
761 13.3
762 14.8
789 14.8 V789I
792 12.3
793 14.1
795 12.7
796 11.5
799 14.2
800 14.5 R800C R800H R800L
808 12.7 R808C
811 10.3 R811H
814 11.2 R814Q