H703L Summary

KCNH2 H703L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H703L is not present in gnomAD. H703L 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.


H703L 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.

H703L 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 0.87 -10.543 0.997 -3

H703L has 57 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
3 14.5
4 9.1
5 12.7
6 10.4 G6R
7 11.5
8 14.4
476 12.5 V476I
477 12.6
478 9.5 A478D
479 10.7
480 12 E480V
481 10.6
482 14.2 V482A
673 12.4
676 14.5 Q676fsX Q676X
677 13.8 M677T
686 12.3
695 13.4
696 12.1 R696C R696H
697 11.4 L697X
698 11.2 E698K E698X
699 7.2 E699D
700 5.9
701 8.2
702 6.7
704 4.4 A704T A704V
705 8.6 W705fsX W705X
706 5.6 S706C S706F
707 6.6
708 8.7
709 10.7
710 12
711 13.2 I711V
713 14.2 M713V
719 12.5
720 11.9
721 12.3 P721L
723 14.8 C723G C723R
724 13.1 C723X L724X
760 13.1
761 11.4
762 7.5
763 8.3
764 6.6
765 9
766 11.6
767 10.2 D767X
768 14.6
769 14.6
784 14.6 R784G R784Q R784W
824 12.9
825 14.5
826 11.8 T826A T826I
827 7.3
828 11.1
829 11.6 D829A D829E
830 13.3