K820Q Summary

SCN5A K820Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K820Q is not present in gnomAD. K820Q has been functionally characterized in 0 papers. Other variants at the same resdue are K820E .K820I .K820N .K820N .K820Q .K820R .K820T . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

K820Q 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 0.903

K820Q has 46 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 13.4 V714A
716 14.4
717 13.8 P717L
719 12.7
720 8.5
721 12
722 13.7
723 10.3 I723V
724 9.4 T724I
725 14.1
726 14.3
727 11.1
728 14 V728I
760 14
763 14.4 E763K
764 13.1 M764K
767 12.8
776 13.5
779 10.4 Q779K
780 9.6
781 5.1
782 9.7
783 12.6
784 9.3
785 9.6 D785N
786 14.3
787 14.8
788 13.3
813 13.7
814 13.5 R814Q
815 11.5
816 10.5 F816Y
817 5.8
818 7.5
819 5.4
821 5.1
822 9
823 8.5
824 11.3
825 9.1
826 6.6
827 11.7
828 12.9
829 10.6
830 12.2
1343 14.5