I769S Summary

SCN5A I769S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I769S is not present in gnomAD. I769S has been functionally characterized in 0 papers. Other variants at the same resdue are I769F .I769L .I769M .I769N .I769S .I769T .I769V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

I769S 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 0.943

I769S has 27 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 7.5
711 10.1
712 13.2
713 11.8
714 10.9 V714A
715 14.2
719 14.7
761 12
762 10
763 10.6 E763K
764 9.5 M764K
765 6
766 5.8
767 7.7
768 4.8
770 4.5
771 7
772 7.3 D772N
773 8.2
774 11.6 Y774C
775 11.6
776 9.2
777 11.8
782 12.7
785 14.6 D785N
786 13.4
789 14.6 V789I