I790L Summary

SCN5A I790L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I790L is not present in gnomAD. I790L has been functionally characterized in 0 papers. Other variants at the same resdue are I790F .I790L .I790M .I790N .I790S .I790T .I790V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

I790L 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 0.545

I790L has 39 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
757 10.9
758 12.5
759 14.7 I759V
760 11.5
761 9.5
762 13.1
763 14.6 E763K
764 10.5 M764K
765 11.9
767 15
768 12.6
773 15
776 13.1
777 12.2
780 14.3
782 12.7
783 10.4
784 10.5
785 9.5 D785N
786 5.6
787 5.5
788 6.7
789 4.6 V789I
791 4.6
792 6.3
793 6
794 6
795 10.3
796 10.8
797 11.8 G797V
798 12.6
806 14.3
807 10.4
809 13.8
810 10.1
811 12.6 R811H
813 11.1
814 11.4 R814Q
817 14.7