I759S Summary

SCN5A I759S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I759S is not present in gnomAD. I759S has been functionally characterized in 0 papers. Other variants at the same resdue are I759F .I759L .I759M .I759N .I759S .I759T .I759V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

I759S 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 0.969

I759S has 46 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
713 14.1
714 14.7 V714A
719 10.9
720 12.1
721 13.4
722 9.1
723 7.9 I723V
724 11.7 T724I
725 11.5
726 7
727 10.1
728 13.1 V728I
729 11.3
730 10.3
731 14.4
733 13.1 F733L F733L F733L
750 14.5
751 12.1 V751I
752 9.7 G752R G752R
753 10.4
754 9.8
755 6.1
756 5.5
757 6.2
758 4
760 4.6
761 6.4
762 5.7
763 6.2 E763K
764 9.2 M764K
765 10.4
766 10.4
767 11.9
768 14.6
785 12.1 D785N
786 13.9
788 12
789 10.4 V789I
790 14.7
792 11.6
793 12.4
796 13.9
811 14.1 R811H
814 10.7 R814Q
817 12.9