Q778K Summary

SCN5A Q778K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q778K is not present in gnomAD. Q778K has been functionally characterized in 0 papers. Other variants at the same resdue are Q778E .Q778H .Q778H .Q778K .Q778L .Q778P .Q778R . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Q778K 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 0.802

Q778K has 19 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
764 14.7 M764K
767 13
768 11.9
770 13.3
771 9.6
772 9.5 D772N
773 8.7
774 8.7 Y774C
775 6.2
776 7.5
777 6.6
779 5 Q779K
780 8.4
781 12
782 8.3
783 9.1
784 14.1
785 13.7 D785N
786 13.4