L818Q Summary

SCN5A L818Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L818Q is not present in gnomAD. L818Q has been functionally characterized in 0 papers. Other variants at the same resdue are L818M .L818P .L818Q .L818R .L818V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L818Q 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 0.993

L818Q has 53 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
719 14.8
720 11.2
721 12
722 12.9
723 9.9 I723V
724 6.9 T724I
725 10.9
726 10.8
727 6.2
728 7.7 V728I
729 11.7
730 10.5
731 8.7
732 12.1
733 14.6 F733L F733L F733L
734 12.4
735 14.4 A735E A735T A735V
756 14.2
760 12.4
780 14.6
781 10.1
782 14.8
784 10.8
785 11.5 D785N
788 12.4
811 14.8 R811H
812 11.1
813 10.9
814 9.6 R814Q
815 5.5
816 7.2 F816Y
817 5.3
819 4.9
820 7.5
821 4.9
822 6
823 9.9
824 10.5
825 7.7
826 9.8
827 13.7
828 12.6
829 11.6
1336 15
1339 10.7 p.L1339del
1340 11.3 V1340I
1341 14.4
1342 12.4
1343 8.4
1344 11
1346 11.4 L1346P
1347 10.9
1350 14.2