L690H Summary

SCN5A L690H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L690H is not present in gnomAD. L690H has been functionally characterized in 0 papers. Other variants at the same resdue are L690F .L690H .L690I .L690P .L690R .L690V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L690H 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 0.715

L690H has 30 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
675 14.7
676 14.2
677 13.7
678 13.2
679 12.6
680 12 R680C
681 11.4
682 10.7
683 10.1 C683R
684 9.3
685 8.5
686 7.6
687 6.6
688 5.4
689 3.8 R689C R689H
691 3.8 A691S A691T
692 5.4 Q692K
693 6.6 R693C R693H
694 7.6 Y694C
695 8.5
696 9.3
697 10.1
698 10.7
699 11.4
700 12
701 12.6 P701L
702 13.2
703 13.7
704 14.2
705 14.7 S705F