L702Q Summary

SCN5A L702Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L702Q is not present in gnomAD. L702Q has been functionally characterized in 0 papers. Other variants at the same resdue are L702M .L702P .L702Q .L702R .L702V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L702Q 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 0.563

L702Q 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
687 14.7
688 14.2
689 13.7 R689C R689H
690 13.2
691 12.6 A691S A691T
692 12 Q692K
693 11.4 R693C R693H
694 10.7 Y694C
695 10.1
696 9.3
697 8.5
698 7.6
699 6.6
700 5.4
701 3.8 P701L
703 3.8
704 5.4
705 6.6 S705F
706 7.6
707 8.5
708 9.3
709 10.1
710 10.7
711 11.4
712 12
713 12.6
714 13.2 V714A
715 13.7
716 14.2
717 14.7 P717L