H771N Summary

KCNH2 H771N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H771N is not present in gnomAD. H771N has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


H771N 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.

H771N 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 0.732 -6.809 0.999 0

H771N has 59 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
696 12.8 R696C R696H
721 12.5 P721L
722 10.5
723 7.4 C723G C723R
724 11.1 C723X L724X
725 13 Q725fsX Q725R
726 9.9
727 10.7
728 14.6
729 14.4
730 12.3
746 13.6 A746S A746X
747 10.3
748 7.3
749 7.2
750 10.7 C750X
751 10.9 L751V
752 6.6 R752P R752Q R752W
753 11.2 A753S
754 14.2
755 13.8
756 13.3 M756V
763 14.4
766 12
767 10.7 D767X
768 5.9
769 7.4
770 4.2
772 4.9
773 7.3
774 5.6 D774X D774Y
775 10.3
776 10.4 L776I L776P
777 12.7
778 12.8 A778T
780 12.7
787 13.8
788 13.7 E788D E788K
789 11
790 9.9
791 11.9 R791Q R791W
792 11.8
793 13 D793N
794 14.4 V794D V794I
805 13 F805C F805S
806 13.5 G806R
816 13.3 G816V
817 11.6
818 8.3 S818A S818L S818W
819 10.4 N819K
820 6.8 G820R
821 4.9 D821E
822 7.1 V822L V822M
823 8.5 R823fsX R823Q R823T R823W
824 12.7
845 13
860 14.9
862 11.8 L862P
863 14.9 R863P R863X