I787S Summary

SCN5A I787S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I787S is not present in gnomAD. I787S has been functionally characterized in 0 papers. Other variants at the same resdue are I787F .I787L .I787M .I787N .I787S .I787T .I787V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

I787S 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 0.936

I787S has 40 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
757 13.1
760 11.9
761 12.1
762 15
764 10.4 M764K
765 13.9
767 14.2
768 13
773 14.7
776 11.5
777 10.3
779 13.2 Q779K
780 9.6
781 10.7
782 9.6
783 6.4
784 5.6
785 6.5 D785N
786 4.3
788 4.9
789 6.6 V789I
790 5.5
791 6
792 8.9
793 10.8
794 10
795 13
796 14.7
806 14.6
807 11.7
809 12.8
810 9.1
811 13 R811H
812 12.8
813 7.8
814 10.2 R814Q
815 13.3
816 11.6 F816Y
817 11.3
820 14.8