L793H Summary

SCN5A L793H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L793H is not present in gnomAD. L793H has been functionally characterized in 0 papers. Other variants at the same resdue are L793F .L793H .L793I .L793P .L793R .L793V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L793H 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 0.974

L793H has 40 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 13.7
752 14.1 G752R G752R
753 11.6
754 10.2
755 12.7
756 13.3
757 7.3
758 9.1
759 12.4 I759V
760 10.6
761 7.9
762 11.9
763 14.5 E763K
764 12.2 M764K
765 12.3
784 14.8
785 12.9 D785N
786 10.3
787 10.8
788 9.3
789 6.1 V789I
790 6
791 7
792 4.3
794 5.6
795 7.2
796 5.5
797 7.3 G797V
798 9.7
799 10.6
800 9.5 R800C R800H R800L
801 13.4 p.801_803delMSN/insS
806 14.5
807 10.2
808 13.2 R808C
809 14.2
810 11.6
811 11.1 R811H
813 13.6
814 11.6 R814Q