S792T Summary

SCN5A S792T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S792T is not present in gnomAD. S792T has been functionally characterized in 0 papers. Other variants at the same resdue are S792C .S792G .S792I .S792N .S792R .S792R .S792R .S792T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S792T 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 0.94

S792T has 53 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
726 14.7
727 13.6
730 11.6
731 14.9
733 15 F733L F733L F733L
734 12.7
750 12.5
751 14.3 V751I
752 12.3 G752R G752R
753 9.2
754 9.9
755 12
756 11.2
757 6.1
758 9.3
759 11.6 I759V
760 8.7
761 8.6
762 12.5
763 14.1 E763K
764 11.7 M764K
765 13.6
783 14.6
784 12
785 10.8 D785N
786 9.6
787 8.9
788 6.2
789 5.1 V789I
790 6.3
791 4.8
793 4.3
794 6.3
795 5.5
796 6.1
797 9.1 G797V
798 10.1
799 10.7
800 11.4 R800C R800H R800L
804 14.3
805 13.3 S805L
806 12.1
807 8
808 10.2 R808C
809 10.5
810 8.1
811 7.1 R811H
812 11.5
813 9.6
814 7.5 R814Q
815 13.6
816 14.7 F816Y
817 13.7