L796R Summary

SCN5A L796R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L796R is not present in gnomAD. L796R has been functionally characterized in 0 papers. Other variants at the same resdue are L796M .L796P .L796Q .L796R .L796V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L796R 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 0.993

L796R 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
730 14.1
734 14.6
747 14.5
749 13.5
750 9
751 11.8 V751I
752 11.5 G752R G752R
753 8.7
754 7.3
755 11.6
756 12.7
757 7.8
758 10.6
759 13.9 I759V
760 12.7
761 11.5
787 14.7
788 12.3
789 10.4 V789I
790 10.8
791 9.5
792 6.1
793 5.5
794 7.5
795 4.3
797 4.6 G797V
798 7
799 5.6
800 5.4 R800C R800H R800L
801 10.1 p.801_803delMSN/insS
802 11.2
803 11.9
804 12.8
805 12.3 S805L
806 13
807 9.2
808 9.8 R808C
809 12.9
810 11.8
811 9.1 R811H
813 14.9
814 12.3 R814Q