P823R Summary

SCN5A P823R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P823R is not present in gnomAD. P823R has been functionally characterized in 0 papers. Other variants at the same resdue are P823A .P823H .P823L .P823R .P823S .P823T . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P823R 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 0.913

P823R 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
720 14
721 14.5
724 12.7 T724I
781 12.5
815 14.7
816 13.9 F816Y
817 12.5
818 9.9
819 7.4
820 8.5
821 6.5
822 5.5
824 4.4
825 6.2
826 5
827 6.8
828 9.6
829 10.4
830 10.9
831 12.9
832 14.4
944 14
1333 14.4
1335 14.6 M1335R
1336 10.1
1337 13.3
1339 10.5 p.L1339del
1340 11.3 V1340I
1343 12.9
1344 14.6