D720G Summary

SCN5A D720G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D720G is not present in gnomAD. D720G has been functionally characterized in 0 papers. Other variants at the same resdue are D720A .D720E .D720E .D720G .D720H .D720N .D720V .D720Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D720G 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 0.946

D720G has 49 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 12.5
711 13.5
712 12.9
713 9.1
714 7.5 V714A
715 10.5
716 7
717 7.2 P717L
718 7.9
719 4.3
721 5.7
722 6.5
723 5 I723V
724 6.6 T724I
725 9.4
726 10.1
727 10.2
728 12.9 V728I
729 14.7
756 14.6
759 12.1 I759V
760 11.2
761 14.6
762 12.7
763 8.6 E763K
764 10.5 M764K
765 14.5
766 13
767 8.9
768 14.7
770 13.9
771 13.2
776 13.5
779 14.2 Q779K
780 14.9
781 11.6
782 11.6
784 13.9
785 11.2 D785N
788 15
814 14.5 R814Q
817 9
818 11.2
819 12.6
820 8.5
821 8.8
822 13.1
823 14
826 14.5