L813P Summary

SCN5A L813P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L813P is not present in gnomAD. L813P has been functionally characterized in 0 papers. Other variants at the same resdue are L813M .L813P .L813Q .L813R .L813V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L813P 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 0.984

L813P has 56 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
727 11.4
728 14.7 V728I
730 11.5
731 11.7
734 10.9
753 13.9
756 14.8
757 13
760 11.8
764 14.2 M764K
780 12.9
781 11.3
782 14
783 12.2
784 6.9
785 9.2 D785N
786 10.9
787 7.8
788 6
789 10.3 V789I
790 11.1
791 8.1
792 9.6
793 13.6
794 12.7
795 11.9
796 14.9
805 14.6 S805L
806 11.7
807 10.3
808 11.7 R808C
809 7.5
810 5.8
811 8.4 R811H
812 5.2
814 6.1 R814Q
815 6.6
816 5.6 F816Y
817 9.1
818 10.9
819 11.6
820 13.7
821 14.8
825 14.4
829 13.9
1343 13.2
1344 12.6
1346 13.5 L1346P
1347 9.2
1348 12.2
1349 14.3
1350 11.8
1351 10.8
1354 13.5
1452 14.9
1456 14.7