D772A Summary

SCN5A D772A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D772A is not present in gnomAD. D772A has been functionally characterized in 0 papers. Other variants at the same resdue are D772A .D772E .D772E .D772G .D772H .D772N .D772V .D772Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D772A 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 0.934

D772A has 22 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 12.1
711 10.6
714 12.7 V714A
715 14.5
764 12.9 M764K
765 11.8
766 12.5
767 10.3
768 6.9
769 7.3
770 6.6
771 5.4
773 3.9
774 5.3 Y774C
775 4.8
776 7.4
777 8.6
778 9.5
779 12.2 Q779K
782 11.5
783 13.6
786 14.2