D785G Summary

SCN5A D785G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D785G is not present in gnomAD. D785G has been functionally characterized in 0 papers. Other variants at the same resdue are D785A .D785E .D785E .D785G .D785H .D785N .D785V .D785Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D785G 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 0.973

D785G has 56 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
719 13.4
720 11.2
722 14.4
723 10 I723V
724 12.4 T724I
726 13.2
727 10.9
730 13.7
756 14
757 11.8
758 12.7
759 12.1 I759V
760 8.1
761 9.9
762 11.3
763 9.8 E763K
764 5.9 M764K
765 11.1
766 13.4
767 9
768 10.5
769 14.6
770 14.6
771 12.8
773 13.6
776 8.5
777 9.9
778 13.7
779 10.3 Q779K
780 8
781 6.9
782 5.6
783 6.8
784 4.3
786 5.1
787 6.5
788 5.2
789 6.9 V789I
790 9.5
791 10.6
792 10.8
793 12.9
794 14.6
810 13.1
811 14 R811H
812 13.5
813 9.2
814 8.6 R814Q
815 11.5
816 10.8 F816Y
817 6.3
818 11.5
819 11.7
820 9.6
821 12.7