I783S Summary

SCN5A I783S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I783S is not present in gnomAD. I783S has been functionally characterized in 0 papers. Other variants at the same resdue are I783F .I783L .I783M .I783N .I783S .I783T .I783V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

I783S 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 0.96

I783S has 33 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
760 14.5
761 14.6
764 10.3 M764K
765 13.9
767 11.9
768 10.8
771 12.7
772 13.6 D772N
773 10.7
774 13.2 Y774C
775 13.3
776 7.1
777 5.4
778 9.1
779 7.2 Q779K
780 4.4
781 7.8
782 5.2
784 6.2
785 6.8 D785N
786 5.8
787 6.4
788 9.5
789 10.7 V789I
790 10.4
791 12.4
792 14.6
813 12.2
814 14.3 R814Q
816 13.6 F816Y
817 11.7
819 14.7
820 12.6