F784S Summary

SCN5A F784S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F784S is not present in gnomAD. F784S has been functionally characterized in 0 papers. Other variants at the same resdue are F784C .F784I .F784L .F784L .F784L .F784S .F784V .F784Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

F784S 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 0.964

F784S 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
720 13.9
723 13 I723V
724 14.1 T724I
727 12.2
730 14.8
757 14.5
760 11.3
761 13.7
763 14.1 E763K
764 10.2 M764K
767 12.9
768 13.9
776 10.9
777 11.1
778 14.1
779 10.3 Q779K
780 6.4
781 5.4
782 7.4
783 6.2
785 4.3 D785N
786 7
787 5.6
788 5.9
789 9.3 V789I
790 10.5
791 10.4
792 12
793 14.8
794 15
809 14.1
810 11.4
811 13.9 R811H
812 11.7
813 6.9
814 9.2 R814Q
815 10
816 7.7 F816Y
817 6.6
818 10.8
819 9.9
820 9.3
821 12.6
825 13.7
826 13.1
829 12.3
1347 14.5