T765N Summary

SCN5A T765N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T765N is not present in gnomAD. T765N has been functionally characterized in 0 papers. Other variants at the same resdue are T765A .T765I .T765N .T765P .T765S .T765S . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T765N 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 0.652

T765N has 35 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 10
711 14
713 12.7
714 12 V714A
719 13.3
720 14.5
723 13.3 I723V
757 12.1
758 9.7
759 10.4 I759V
760 10.3
761 6
762 4.9
763 6.9 E763K
764 5.5 M764K
766 4.4
767 7.1
768 5.4
769 6
770 8.9
771 10.3
772 11.8 D772N
773 10.8
776 9.5
777 12
782 11.6
783 13.9
785 11.1 D785N
786 9.8
787 13.9
788 12.8
789 9.3 V789I
790 11.9
792 13.6
793 12.3