I467F Summary

KCNH2 I467F was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I467F is not present in gnomAD. I467F 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.


I467F 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.

I467F 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 0.956 -3.707 0.999 0

I467F has 48 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
400 13.7 I400N
407 12.7
410 11.6 W410X
411 13.5
414 11.9 I414fsX
417 14
418 14.8
459 13.1
460 11.9 D460fsX
461 10.6
462 9.9 M462Ins
463 7.7 F463L
464 5.8 I464X
465 6.2
466 4.7 D466E
468 4.7 L468F L468R L468X
469 6.5
470 5.6 N470D
471 6.4 F471X
472 10.8 R472C R472X
473 10.4 T473P
474 14.1 T474I
486 14.3
489 12.3 I489F I489I
490 11.6 A490P A490T
491 14.8 V491I
492 13.7 H492Y
493 7.5 Y493C Y493F Y493H Y493Ins
494 10.9 F494Del
496 12.6
497 12.2 W497L W497X
498 7
499 11.6
500 11.3 I500Del
501 7 D501H D501N D501Y
502 7.7 M502I
503 11
504 9.3 A504V
505 7.9 A505V
506 11.4 I506V
507 13.3 P507L P507S
528 14.8 R528P R528W R528X
530 13.5
531 11.1 R531Del R531Q R531W
533 13.4
534 9 R534C
537 12.1 R537W
538 13.3