T757A Summary

SCN5A T757A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T757A is not present in gnomAD. T757A has been functionally characterized in 0 papers. Other variants at the same resdue are D757Y .T757A .T757I .T757K .T757P .T757R .T757S . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T757A 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 0.962

T757A has 56 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
722 14.4
723 12 I723V
724 14.9 T724I
726 10.3
727 11.2
728 14.5 V728I
729 12.7
730 9.1
731 13.4
733 11.9 F733L F733L F733L
734 12.3
748 14.7
749 12.5
750 10.3
751 10 V751I
752 7.8 G752R G752R
753 6.4
754 6
755 6.1
756 6
758 4
759 6.2 I759V
760 5.3
761 6.1
762 8.9
763 10.6 E763K
764 10.7 M764K
765 12.1
766 14.1
784 14.5
785 11.8 D785N
786 12.2
787 13.1
788 9.1
789 7.3 V789I
790 10.9
791 10.7
792 6.1
793 7.3
794 11.8
795 9.5
796 7.8
797 12.2 G797V
798 14.3
799 12.9
800 12.4 R800C R800H R800L
807 13.4
808 12.7 R808C
809 14.6
810 13.2
811 9.1 R811H
812 13.9
813 13
814 8 R814Q
815 14.3
817 13.5