L812P Summary

SCN5A L812P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L812P is not present in gnomAD. L812P has been functionally characterized in 0 papers. Other variants at the same resdue are L812M .L812P .L812Q .L812R .L812V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L812P 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 0.982

L812P has 58 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 11.2
728 13 V728I
729 14.5
730 9.6
731 8.6
732 12.7
733 12.7 F733L F733L F733L
734 6.8
735 10.8 A735E A735T A735V
736 14
737 11.5
749 14.6
753 12.3
756 14.3
757 13.9
760 13.6
784 11.7
785 13.5 D785N
787 12.8
788 10
789 13.8 V789I
791 11.2
792 11.5
795 12
805 13 S805L
806 11.1
807 10.8
808 9 R808C
809 5.6
810 7.1
811 6.5 R811H
813 5.2
814 6.9 R814Q
815 5.6
816 7.1 F816Y
817 11.5
818 11.1
819 13.1
1342 13.9
1343 10.9
1344 10.8
1345 13.8 W1345C W1345C
1346 9.3 L1346P
1347 5.6
1348 8.7
1349 9.4
1350 6.6
1351 6.6
1352 10.4
1353 10.8 V1353M
1354 9.1
1355 12.6
1356 14.9
1405 13.2 V1405L V1405L V1405M
1449 12.4 Y1449C
1452 13.5
1453 13.9
1456 13.9