A762T Summary

SCN5A A762T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A762T is not present in gnomAD. A762T has been functionally characterized in 0 papers. Other variants at the same resdue are A762E .A762G .A762P .A762S .A762T .A762V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A762T 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 0.798

A762T has 41 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 10.7
713 11.9
714 12.1 V714A
719 10.9
720 12.7
722 12
723 10.2 I723V
724 14.9 T724I
726 11.9
727 14
752 14.8 G752R G752R
753 14.8
754 13.2
755 10.8
756 11
757 8.9
758 5.8
759 5.7 I759V
760 7.1
761 4.1
763 4.1 E763K
764 6.1 M764K
765 4.9
766 5.2
767 8.3
768 9.6
769 10
770 11.8
771 13.3
776 12.7
782 13.4
785 11.3 D785N
786 11.6
787 15
788 12.3
789 9.3 V789I
790 13.1
792 12.5
793 11.9
814 13.5 R814Q
817 14.4