E682V Summary

KCNH2 E682V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E682V is not present in gnomAD. E682V has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


E682V Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

E682V 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.

PAM Score REVEL Score PROVEAN Score Polyphen2 Score BLAST-PSSM
NA 0.938 -6.806 0.999 -3

E682V has 46 neighbors (found in individuals) within 15 ångströms

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. NOTE: some residues appear multiple times at different distances. This results from the fact that the functional Kv11.1 channel is a homotetramer and occasionally the same residue from multiple subunits is present within the 15A window. All variants shown in the rightmost column have been observed in at least one individual in the literature or gnomAD.

ResidueNumber Distance(Å) Variants
544 13.5 E544A E544fsX
545 13.3
546 13
665 11.4 R665Q
666 11.5
667 13.6 Y667X
668 10 S668L
669 10.1 G669C G669R G669X
670 13.3
671 14.4 A671Del A671G
672 11.1 R672C R672H
673 14
674 12.5 H674fsX H674Y
675 10
676 10.4 Q676fsX Q676X
677 9.1 M677T
678 5.5
679 6.9 R679Q R679W
680 6.6
681 6.8 R681W
683 6.9
684 7.4
685 6.2 R685C R685H R685P
686 7.7
687 10.1
688 11.9
689 12
694 12.6 R694C R694H
697 13.2 L697X
698 13.3 E698K E698X
701 13.6
704 14 A704T A704V
705 11.3 W705fsX W705X
706 12.3 S706C S706F
707 11.8
708 8.8
709 6.6
710 8.2
711 6.5 I711V
712 10.3 D712N
713 9.8 M713V
714 14.4
715 12.6 A715A A715sp A715T A715V
716 10.4 V716G
717 13.9 L717P
720 14.9