I400M Summary

KCNH2 I400M was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I400M is not present in gnomAD. I400M 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 3 individuals unaffected with LQT2 and 7 individuals affected with LQT2.


I400M 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.

I400M 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 0.771 -2.498 0.94 1

I400M has 37 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 14.4
398 7 W398L W398X
399 4.4
401 4.4
402 8.5 H402R
403 9.5
404 7.7
405 10.4
406 7.8
407 8
408 11.8
409 13.6 V409L V409M
410 11.6 W410X
411 13.2
465 13
466 12.3 D466E
467 13.7
468 11.3 L468F L468R L468X
469 7.6
470 9.7 N470D
471 10.8 F471X
472 6.8 R472C R472X
473 5.2 T473P
474 6.6 T474I
475 11.8 Y475C Y475Del
476 14 V476I
482 12.9 V482A
483 11.4 V483I
484 9.6
485 10.3 H485X
486 11.4
487 14.7 G487R G487S
488 14.8 R488C R488H
489 11.1 I489F I489I
490 14.7 A490P A490T
493 14.3 Y493C Y493F Y493H Y493Ins
541 14.7 R541C R541H