A704D Summary

KCNH2 A704D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A704D is not present in gnomAD. A704D has been functionally characterized in 0 papers. This residue is located in a Non_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


A704D 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.

A704D 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 0.877 -5.355 0.427 -2

A704D has 55 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
4 11.2
6 13.9 G6R
478 13 A478D
479 14.6
481 14.7
669 12.6 G669C G669R G669X
670 14.3
672 12.2 R672C R672H
673 10.3
674 14.7 H674fsX H674Y
676 11 Q676fsX Q676X
677 11.9 M677T
680 13.2
682 14 E682X
683 14.9
686 10.6
687 13.9
696 13.6 R696C R696H
697 11.2 L697X
698 11.7 E698K E698X
699 9.6 E699D
700 5.6
701 6
702 7.1
703 4.4
705 6 W705fsX W705X
706 5.2 S706C S706F
707 5.8
708 5.4
709 8.2
710 8.1
711 9.4 I711V
712 11.3 D712N
713 10.8 M713V
714 14.1
716 13.8 V716G
717 14.9 L717P
718 14.7
719 9.3
720 9.9
721 11.1 P721L
723 14.9 C723G C723R
724 12.9 C723X L724X
760 12.1
761 11.3
762 8.4
763 10.7
764 9.8
765 12.9
766 14.7
767 12.6 D767X
827 11.3
828 13.9
829 13.4 D829A D829E
830 14.4