I489M Summary

KCNH2 I489M was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I489M is not present in gnomAD. I489M 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.


I489M 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.

I489M 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 0.735 -2.78 1 1

I489M has 38 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
398 12.7 W398L W398X
399 11.6
400 11.1 I400N
401 12.4
402 11.9 H402R
407 14.5
466 13.9 D466E
467 12.3
468 12.1 L468F L468R L468X
469 11.2
470 8.6 N470D
471 6.5 F471X
472 8.2 R472C R472X
473 7.1 T473P
474 7.4 T474I
475 6 Y475C Y475Del
476 10.9 V476I
477 10.7
478 14.4 A478D
480 12.1 E480V
481 13.3
482 11.1 V482A
483 6.9 V483I
484 7
485 7.9 H485X
486 5.7
487 5.8 G487R G487S
488 6.5 R488C R488H
490 4.5 A490P A490T
491 6.5 V491I
492 6.4 H492Y
493 7.4 Y493C Y493F Y493H Y493Ins
494 9.1 F494Del
495 13 K495X
496 12.2
497 13.7 W497L W497X
498 11.9
537 14.4 R537W