K817M Summary

SCN5A K817M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K817M is not present in gnomAD. K817M has been functionally characterized in 0 papers. Other variants at the same resdue are K817E .K817M .K817N .K817N .K817Q .K817R .K817T . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

K817M 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 0.95

K817M has 60 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
714 14.5 V714A
719 12.4
720 9
721 12.1
722 11.9
723 7.7 I723V
724 7.6 T724I
725 12
726 10.4
727 6.6
728 10.5 V728I
729 13.3
730 11
731 11.2
734 13.7
756 13
757 13.5
758 14.8
759 12.9 I759V
760 9.1
761 13.7
762 14.4
763 11.8 E763K
764 10.4 M764K
767 12.2
776 13.4
779 12.8 Q779K
780 10.5
781 6.5
782 9.7
783 11.7
784 6.6
785 6.3 D785N
786 11.2
787 11.3
788 8.4
789 11.6 V789I
790 14.7
791 14.2
792 13.7
810 14.5
811 13.8 R811H
812 11.5
813 9.1
814 7.8 R814Q
815 7.2
816 7.5 F816Y
818 5.3
819 6.5
820 5.8
821 6.9
822 10.4
823 12.5
824 14.1
825 10.8
826 10.8
829 12.5
1343 12.9
1344 14.4
1347 13.4