I464V Summary

KCNH2 I464V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I464V is not present in gnomAD. I464V 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 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


I464V 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.

I464V 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 0.582 -0.523 0.338 3

I464V has 41 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 12.2 W410X
413 14.3 L413P
414 12.3 I414fsX
417 12.3
418 14.2
421 14.4 T421fsX T421M
455 15
456 12.8 D456Y
457 10.6 L457P
458 10.6
459 9.1
460 7 D460fsX
461 5.3
462 7 M462Ins
463 6.1 F463L
465 4.7
466 7 D466E
467 5.8
468 6.9 L468F L468R L468X
469 9.6
470 10.8 N470D
471 11.5 F471X
472 14.5 R472C R472X
473 15 T473P
493 13.1 Y493C Y493F Y493H Y493Ins
498 11.4
499 14.9
500 14 I500Del
501 10.1 D501H D501N D501Y
502 9.3 M502I
503 11.3
504 8.5 A504V
505 5.9 A505V
506 9.4 I506V
507 9.3 P507L P507S
508 13.7
527 14.1
528 12.1 R528P R528W R528X
530 14.2
531 10.1 R531Del R531Q R531W
534 11.4 R534C