K767M Summary

SCN5A K767M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K767M is not present in gnomAD. K767M has been functionally characterized in 0 papers. Other variants at the same resdue are K767E .K767M .K767N .K767N .K767Q .K767R .K767T . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

K767M 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 0.954

K767M has 50 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
710 7.6
711 9.4
712 11.6
713 8.5
714 5.8 V714A
715 10.4
716 10.8
717 13.7 P717L
718 14.1
719 8.7
720 8.9
721 14.1
722 12.6
723 10 I723V
724 14 T724I
726 14.7
758 13.3
759 11.9 I759V
760 10.9
761 10.3
762 8.3
763 5.9 E763K
764 4.9 M764K
765 7.1
766 6.6
768 6
769 7.7
770 6.3
771 5.9
772 10.3 D772N
773 10.4
774 14.4 Y774C
775 12.1
776 6.4
777 10.5
778 13
779 11.2 Q779K
780 12.6
781 12.2
782 7.4
783 11.9
784 12.9
785 9 D785N
786 10.4
787 14.2
788 13.1
789 11.9 V789I
790 15
817 12.2
820 12.8