A770T Summary

SCN5A A770T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A770T is not present in gnomAD. A770T has been functionally characterized in 0 papers. Other variants at the same resdue are A770D .A770G .A770P .A770S .A770T .A770V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A770T 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 0.932

A770T has 30 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 5.5
711 5.9
712 9.6
713 9.1
714 7.4 V714A
715 10
716 12.8
719 12.6
720 13.9
761 14.3
762 11.8
763 10.7 E763K
764 10.2 M764K
765 8.9
766 7.3
767 6.3
768 6.4
769 4.5
771 3.8
772 6.6 D772N
773 8.8
774 11.8 Y774C
775 9.5
776 8.4
777 11.9
778 13.3
779 13.7 Q779K
782 11.5
785 14.6 D785N
786 14.6