I728F Summary

KCNH2 I728F was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I728F is not present in gnomAD. I728F 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 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


I728F 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.

I728F 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 0.976 -3.869 0.999 0

I728F has 61 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
680 11.5
683 8.2
684 10
686 11.9
687 8.2
688 12.1
689 8
690 9.8
691 13.5
692 11.3
693 6.9 L693X
694 11.5 R694C R694H
695 13.4
696 9.6 R696C R696H
697 8.3 L697X
698 13.2 E698K E698X
699 14.3 E699D
700 12.5
701 14.4
711 14.9 I711V
713 10.6 M713V
714 11.2
715 12.4 A715A A715sp A715T A715V
716 9.6 V716G
717 7 L717P
718 12.2
719 11.4
720 8.2
721 9.7 P721L
722 11.1
723 9.6 C723G C723R
724 6.4 C723X L724X
725 6.2 Q725fsX Q725R
726 5.5
727 4.7
729 4.4
730 6.8
731 6.2 H731R
732 6.1
733 9
734 10.7 R734C R734H
735 13.8 S735L
736 14.4
737 13.2 L737P
738 14.8 Q738X
748 14.7
749 14.6
751 12.7 L751V
752 9.5 R752P R752Q R752W
753 12.6 A753S
754 13.3
755 8.9
756 8.8 M756V
757 13.6
758 12.2
759 13.1 K759N
760 12.1
767 14.8 D767X
768 13.5
771 14.6 H771fsX H771R
831 14.3