T761S Summary

SCN5A T761S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T761S is not present in gnomAD. T761S has been functionally characterized in 0 papers. Other variants at the same resdue are T761A .T761I .T761K .T761P .T761R .T761S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T761S 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 0.937

T761S has 47 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 14.3
719 13.9
720 14.6
722 14.1
723 11.5 I723V
726 12.4
727 13.5
730 13.7
752 13.3 G752R G752R
753 12.4
754 11
755 10
756 10.2
757 6.1
758 4.4
759 6.4 I759V
760 5.9
762 4.1
763 6.9 E763K
764 6.2 M764K
765 6
766 8.6
767 10.3
768 10.3
769 12
770 14.3
776 12.9
777 14.9
782 13.2
783 14.6
784 13.7
785 9.9 D785N
786 9.3
787 12.1
788 9.4
789 5.8 V789I
790 9.5
791 11.8
792 8.6
793 7.9
794 12.9
795 13.5
796 11.5
797 14.8 G797V
811 14 R811H
814 11.1 R814Q
817 13.7