I711M Summary

KCNH2 I711M was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I711M is not present in gnomAD. I711M 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


I711M 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.

I711M 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 0.789 -2.867 0.949 1

I711M has 48 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
665 14.8 R665Q
668 10.6 S668L
669 9.6 G669C G669R G669X
670 13
671 13.2 A671Del A671G
672 8.6 R672C R672H
673 12.4
675 12.2
675 14.6
676 11.7 Q676fsX Q676X
676 11.9 Q676fsX Q676X
677 13.5 M677T
678 10.3
679 6.9 R679Q R679W
680 10
681 12.8 R681W
682 6.5 E682X
683 7.8
684 11.3
685 11.7 R685C R685H R685P
686 7.7
687 10.3
688 14.5
689 14.9
700 14.2
701 12.3
702 14.5
703 13.2
704 9.4 A704T A704V
705 8.2 W705fsX W705X
706 10.1 S706C S706F
707 9
708 4.7
709 5.6
710 3.6
712 4.7 D712N
713 5.4 M713V
714 9.6
715 8.8 A715A A715sp A715T A715V
716 8.7 V716G
717 11.7 L717P
718 13.3
719 12.6
720 14.8
728 14.9
732 14.6
760 13.5
762 13.9