L798M Summary

SCN5A L798M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L798M is not present in gnomAD. L798M has been functionally characterized in 0 papers. Other variants at the same resdue are L798M .L798P .L798Q .L798R .L798V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L798M 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 0.783

L798M has 26 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
753 14.3
754 14
757 14.3
789 14.4 V789I
790 12.6
791 10.2
792 10.1
793 9.7
794 6.7
795 5.7
796 7
797 3.9 G797V
799 5
800 7.5 R800C R800H R800L
801 6.4 p.801_803delMSN/insS
802 6.4
803 5.4
804 6.8
805 8.2 S805L
806 9.3
807 6.7
808 10 R808C
809 12.2
810 11.2
811 11.8 R811H