Q779R Summary

SCN5A Q779R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q779R is not present in gnomAD. Q779R has been functionally characterized in 0 papers. Other variants at the same resdue are Q779E .Q779H .Q779H .Q779K .Q779L .Q779P .Q779R . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

Q779R 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 0.742

Q779R has 29 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 13.2 V714A
715 15
720 14.2
764 12.5 M764K
767 11.2
768 12.1
770 13.7
771 10
772 12.2 D772N
773 11.2
774 12.8 Y774C
775 9.8
776 7.1
777 7.6
778 5
780 4.7
781 7.2
782 5.3
783 7.2
784 10.3
785 10.3 D785N
786 11.7
787 13.2
788 14.9
817 12.8
819 14.3
820 10.4
826 13.8
830 14.6