P773A Summary

SCN5A P773A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P773A is not present in gnomAD. P773A has been functionally characterized in 0 papers. Other variants at the same resdue are P773A .P773H .P773L .P773R .P773S .P773T . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P773A 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 0.887

P773A has 26 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 14.1
711 13.6
714 14.3 V714A
764 11.5 M764K
765 10.8
766 12.9
767 10.4
768 5.7
769 8.2
770 8.8
771 7.2
772 3.9 D772N
774 4.4 Y774C
775 6.4
776 5.8
777 5.4
778 8.7
779 11.2 Q779K
780 13.1
782 9.8
783 10.7
785 13.6 D785N
786 11.2
787 14.7
789 15 V789I
790 15