I461N Summary

KCNH2 I461N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I461N is not present in gnomAD. I461N 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.


I461N 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.

I461N 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 0.95 -6.302 0.997 -4

I461N has 36 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
410 12.1 W410X
413 12.7 L413P
414 12.3 I414fsX
416 14.9
417 10.6
418 13.9
420 12.9 Y420C
421 13.4 T421fsX T421M
453 12.6
454 11
455 10.4
456 9.5 D456Y
457 6.5 L457P
458 5.5
459 6.1
460 5.2 D460fsX
462 5 M462Ins
463 7.3 F463L
464 5.3 I464X
465 6.5
466 9.9 D466E
467 10.6
468 10.8 L468F L468R L468X
469 12.4
470 14.7 N470D
501 14.1 D501H D501N D501Y
502 13.9 M502I
503 14.9
504 11.4 A504V
505 9.3 A505V
506 12.2 I506V
507 10.3 P507L P507S
508 14.7
528 12 R528P R528W R528X
531 11.3 R531Del R531Q R531W
534 14 R534C