G797V Summary

SCN5A G797V was found in 1 paper (see below) with a total of 3 carriers: 0 had BrS1, 2 had LQT3, and 0 had other disease. G797V is not present in gnomAD. G797V has been functionally characterized in 0 papers. Other variants at the same resdue are G797A .G797C .G797D .G797R .G797S .G797V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

G797V Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2666966120161020
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G797V 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
Damaging 0.007 -6.54 probablydamaging 0.97 3.374 2.41 -5 0.916

G797V has 28 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
750 12.4
753 13.1
754 11.5
757 12.2
758 14.6
761 14.8
789 13 V789I
790 11.8
791 10.6
792 9.1
793 7.3
794 6.7
795 6.1
796 4.6
798 3.9
799 4.9
800 4.4 R800C R800H R800L
801 6.2 p.801_803delMSN/insS
802 8.4
803 8.7
804 10.6
805 11.6 S805L
806 12.5
807 9.1
808 11.7 R808C
809 14.4
810 13
811 12.3 R811H