S743I Summary

SCN5A S743I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S743I is not present in gnomAD. S743I has been functionally characterized in 0 papers. Other variants at the same resdue are S743C .S743G .S743I .S743N .S743R .S743R .S743R .S743T . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S743I 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 0.342

S743I has 17 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
733 14.9 F733L F733L F733L
736 12.6
737 13
738 11.9
739 13.2
740 10
741 7.2
742 4.3
744 4.4
745 6.4
746 4.5 E746K
747 7
748 8.9
749 10
750 11.2
751 12.2 V751I
752 14.4 G752R G752R