I689F Summary

KCNH2 I689F was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I689F is not present in gnomAD. I689F 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.


I689F 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.

I689F 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 0.936 -3.89 0.999 0

I689F has 41 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
5 14.7
677 14 M677T
678 14.9
680 9.8
681 11.2 R681W
682 12 E682X
683 7.6
684 4.8
685 9.2 R685C R685H R685P
686 9.5
687 6.5
688 5.9
690 4
691 7.4
692 8.3
693 5.8 L693X
694 5.5 R694C R694H
695 10.1
696 10.6 R696C R696H
697 8.3 L697X
698 10.1 E698K E698X
699 13.7 E699D
701 14.7
707 14.9
711 14.9 I711V
713 13 M713V
716 13 V716G
717 13 L717P
720 12.9
724 11.8 C723X L724X
725 13.8 Q725fsX Q725R
726 12.9
727 9.6
728 8
729 11.4
730 11.4
731 6.3 H731R
732 9.1
733 12.9
734 10.1 R734C R734H
735 14.8 S735L