N782S Summary

SCN5A N782S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N782S is not present in gnomAD. N782S has been functionally characterized in 0 papers. Other variants at the same resdue are N782D .N782H .N782I .N782K .N782K .N782S .N782T .N782Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

N782S 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 0.919

N782S has 47 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 14.7
711 14.5
714 11.2 V714A
715 14.6
719 13.8
720 11.6
723 12.7 I723V
760 12.7
761 13.2
762 13.4
763 11.5 E763K
764 7.4 M764K
765 11.6
766 13.3
767 7.4
768 8.4
769 12.7
770 11.5
771 8.7
772 11.5 D772N
773 9.8
774 13 Y774C
775 11.2
776 4.2
777 6.2
778 8.3
779 5.3 Q779K
780 5.3
781 6.5
783 5.2
784 7.4
785 5.6 D785N
786 7.2
787 9.6
788 10.5
789 11.1 V789I
790 12.7
791 15
813 14
814 14.2 R814Q
816 14.4 F816Y
817 9.7
818 14.8
819 13.5
820 9.7
821 14.2
826 14.9