L807Q Summary

SCN5A L807Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L807Q is not present in gnomAD. L807Q has been functionally characterized in 0 papers. Other variants at the same resdue are L807M .L807P .L807Q .L807R .L807V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L807Q 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

L807Q has 36 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
734 13.9
750 14.9
753 13.3
757 13.4
786 14.6
787 11.7
788 11.1
789 12.1 V789I
790 10.4
791 6.2
792 8
793 10.2
794 6.4
795 5.2
796 9.2
797 9.1 G797V
798 6.7
799 9.4
800 12.7 R800C R800H R800L
801 13.1 p.801_803delMSN/insS
802 11.5
803 9.5
804 7.1
805 6.2 S805L
806 4.3
808 7.2 R808C
809 6.1
810 4.6
811 8 R811H
812 10.8
813 10.3
814 11.9 R814Q
1350 14.7
1351 12.4
1354 11.4
1355 13.7