I469L Summary

KCNH2 I469L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I469L is not present in gnomAD. I469L 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.


I469L 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.

I469L 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 0.765 -1.853 0.476 1

I469L has 51 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 11.2 W398L W398X
399 10.7
400 7.6 I400N
401 10.8
402 11.8 H402R
403 14.7
404 11.9
405 13.7
406 9
407 7.6
408 12.2
409 13 V409L V409M
410 7.9 W410X
411 10.6
413 12.8 L413P
414 11.1 I414fsX
417 14.6
459 14.9
461 12.4
462 9.9 M462Ins
463 10.6 F463L
464 9.6 I464X
465 6
466 5.1 D466E
467 6.5
468 5 L468F L468R L468X
470 4.6 N470D
471 7 F471X
472 7.3 R472C R472X
473 5.9 T473P
474 9.9 T474I
475 13.1 Y475C Y475Del
483 15 V483I
484 14
485 14.4 H485X
486 12.6
489 11.2 I489F I489I
490 12.8 A490P A490T
492 14.5 H492Y
493 10.1 Y493C Y493F Y493H Y493Ins
494 14.6 F494Del
498 12.4
501 12 D501H D501N D501Y
502 14.1 M502I
504 14.9 A504V
505 13.8 A505V
531 14.9 R531Del R531Q R531W
534 11.2 R534C
537 13 R537W
538 12.4
541 14.5 R541C R541H