A504T Summary

KCNH2 A504T was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A504T is not present in gnomAD. A504T 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.


A504T 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.

A504T 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 0.952 -3.74 0.992 0

A504T has 50 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
414 12.8 I414fsX
417 12.1
418 11.2
420 13.5 Y420C
421 10.1 T421fsX T421M
422 13.1 A422T
425 11.9
456 12.3 D456Y
457 13 L457P
458 14.2
459 10.3
460 8.1 D460fsX
461 11.4
462 11.8 M462Ins
463 6.6 F463L
464 8.5 I464X
465 12
466 10.3 D466E
467 9.3
468 13.5 L468F L468R L468X
469 14.9
470 13.4 N470D
493 13.3 Y493C Y493F Y493H Y493Ins
496 14.1
497 12.8 W497L W497X
498 9.7
499 9.9
500 7.6 I500Del
501 6 D501H D501N D501Y
502 5.2 M502I
503 4.1
505 3.8 A505V
506 5.6 I506V
507 8.1 P507L P507S
508 10.5
522 14.8 G522E
523 14.7
524 11
525 10.5 K525N
526 10
527 5.9
528 6.5 R528P R528W R528X
529 9
530 6.2
531 4.9 R531Del R531Q R531W
532 10.9
533 10.1
534 8.7 R534C
535 14 V535M
537 13.5 R537W