M794I Summary

SCN5A M794I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M794I is not present in gnomAD. M794I has been functionally characterized in 0 papers. Other variants at the same resdue are M794I .M794I .M794I .M794K .M794L .M794L .M794R .M794T .M794V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

M794I 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 0.562

M794I has 35 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
753 14.4
754 14.2
757 11.8
758 14.4
760 14.6
761 12.9
784 15
785 14.6 D785N
786 11.5
787 10
788 10.3
789 8.9 V789I
790 6
791 4.8
792 6.3
793 5.6
795 6.4
796 7.5
797 6.7 G797V
798 6.7
799 10.1
800 10.8 R800C R800H R800L
801 11.9 p.801_803delMSN/insS
802 13.1
803 11.5
804 11.1
805 11.8 S805L
806 10.4
807 6.4
808 12.1 R808C
809 11.8
810 8.8
811 11.3 R811H
813 12.7
814 13.1 R814Q