I414T Summary

KCNH2 I414T was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I414T is not present in gnomAD. I414T 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.


I414T 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.

I414T 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 0.944 -4.742 0.998 -1

I414T has 58 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
404 14.6
405 14.5
406 11.7
407 9.1
408 9.8
409 9.1 V409L V409M
410 5.5 W410X
411 5.3
412 7.8 W412X
413 4.7 L413P
415 5.2
416 6.8
417 5.2
418 6.2
419 9.3
420 11.3 Y420C
421 10.4 T421fsX T421M
422 12.7 A422T
423 14.8
455 14.9
456 14.5 D456Y
458 12.8
459 9.6
460 12.5 D460fsX
461 12.3
462 7.7 M462Ins
463 7.3 F463L
464 12.3 I464X
465 10.4
466 7.5 D466E
467 11.9
468 14 L468F L468R L468X
469 11.1
470 11.5 N470D
473 14.4 T473P
497 14.8 W497L W497X
501 11.7 D501H D501N D501Y
504 12.8 A504V
505 14 A505V
528 13.8 R528P R528W R528X
529 14.1
530 13.5
531 9.2 R531Del R531Q R531W
532 10
533 11.1
534 7 R534C
535 8.2 V535M
536 11.8 A536X
537 10.9 R537W
538 8.3
539 12.7
540 13.9 D540fsX
541 10.8 R541C R541H
542 9
548 15
551 14.1 F551L
552 13.2 L552S
555 14.5