R811P Summary

SCN5A R811P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R811P is not present in gnomAD. R811P has been functionally characterized in 0 papers. Other variants at the same resdue are R811C .R811G .R811H .R811L .R811P .R811S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R811P 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 0.979

R811P has 69 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
726 13.9
727 11.9
728 14 V728I
729 13.5
730 8
731 9.9
732 12.9
733 10.3 F733L F733L F733L
734 6.3
735 11.5 A735E A735T A735V
736 12.9
737 9.7
741 14.9
746 14.7 E746K
748 14.3
749 10.3
750 10.2
751 12.8 V751I
752 10.3 G752R G752R
753 6.8
754 10.7
755 12.8
756 10.7
757 9.1
758 13
759 14.1 I759V
760 11.1
761 14
784 13.9
785 14 D785N
786 14.9
787 13
788 9.3
789 11.2 V789I
790 12.6
791 9
792 7.1
793 11.1
794 11.3
795 6.4
796 9.1
797 12.3 G797V
798 11.8
799 10.9
800 13.8 R800C R800H R800L
804 13.4
805 10.5 S805L
806 10
807 8
808 4.8 R808C
809 6.2
810 7.1
812 6.5
813 8.4
814 6.2 R814Q
815 10.1
816 12.5 F816Y
817 13.8
818 14.8
1346 14.1 L1346P
1347 11.8
1348 14.4
1349 13.4
1350 9.5
1351 10.6
1352 12.6
1353 11.6 V1353M
1354 8.5
1355 13.5