L695Q Summary

SCN5A L695Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L695Q is not present in gnomAD. L695Q has been functionally characterized in 0 papers. Other variants at the same resdue are L695M .L695P .L695Q .L695R .L695V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L695Q 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 0.96

L695Q 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
680 14.7 R680C
681 14.2
682 13.7
683 13.2 C683R
684 12.6
685 12
686 11.4
687 10.7
688 10.1
689 9.3 R689C R689H
690 8.5
691 7.6 A691S A691T
692 6.6 Q692K
693 5.4 R693C R693H
694 3.8 Y694C
696 3.8
697 5.4
698 6.6
699 7.6
700 8.5
701 9.3 P701L
702 10.1
703 10.7
704 11.4
705 12 S705F
706 12.6
707 13.2
708 13.7
709 14.2
710 14.7