G758V Summary

SCN5A G758V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. G758V is not present in gnomAD. G758V has been functionally characterized in 0 papers. Other variants at the same resdue are G758A .G758E .G758R .G758R .G758V .G758W . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

G758V 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 0.835

G758V has 42 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
719 14.3
722 13.1
723 11.3 I723V
726 10.4
727 12.6
729 13.8
730 11.6
733 14.1 F733L F733L F733L
750 12.7
751 11.1 V751I
752 9.5 G752R G752R
753 9.4
754 7.4
755 5.7
756 6.9
757 4
759 4 I759V
760 5.7
761 4.4
762 5.8
763 8.3 E763K
764 9.6 M764K
765 9.7
766 10.9
767 13.3
768 14.4
785 12.7 D785N
786 13
788 11.4
789 8.7 V789I
790 12.5
791 13.6
792 9.3
793 9.1
794 14.4
795 13
796 10.6
797 14.6 G797V
800 14.2 R800C R800H R800L
811 13 R811H
814 11 R814Q
817 14.8