Q708K Summary

SCN5A Q708K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q708K is not present in gnomAD. Q708K has been functionally characterized in 0 papers. Other variants at the same resdue are Q708E .Q708H .Q708H .Q708K .Q708L .Q708P .Q708R . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

Q708K 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 0.57

Q708K 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
693 14.7 R693C R693H
694 14.2 Y694C
695 13.7
696 13.2
697 12.6
698 12
699 11.4
700 10.7
701 10.1 P701L
702 9.3
703 8.5
704 7.6
705 6.6 S705F
706 5.4
707 3.8
709 3.8
710 5.4
711 6.6
712 7.6
713 8.5
714 9.3 V714A
715 10.1
716 10.7
717 11.4 P717L
718 12
719 12.6
720 13.2
721 13.7
722 14.2
723 14.7 I723V