I662N Summary

KCNH2 I662N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I662N is not present in gnomAD. I662N 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.


I662N 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.

I662N 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 0.959 -6.782 1 -4

I662N has 52 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
539 14.8
543 10.8 S543fsX
544 13.6 E544A E544fsX
545 12.5
546 6.6
547 8 A547T
548 9.5
549 6.9 V549M
550 6.8
551 12.4 F551L
552 11.5 L552S
553 8.9 L553V
554 11.5
555 14.6
556 14.7
649 14.6
650 11.6 L650X
651 14.8 M651K
653 11.7
653 14
654 12.2
654 10.5
655 14.8
655 10.5
656 10.5 F656L
657 8.2 G657S G657V
657 12.8 G657S G657V
658 6.5
658 12.8
659 5.2
660 14.3 S660L
660 6.3 S660L
661 4 A661V
663 14.7
663 4.9
664 6.9 Q664X
664 12 Q664X
665 4.7 R665Q
666 6.3
667 9 Y667X
668 10 S668L
669 13.2 G669C G669R G669X
670 13.1
670 13.6
671 13.2 A671Del A671G
671 10.9 A671Del A671G
672 14.8 R672C R672H
673 14.6
674 10.2 H674fsX H674Y
675 11
677 14.8 M677T
678 11.6