F494Del Summary

KCNH2 F494Del was found in 1 paper (see below) with a total of 1 carrier: 1 had LQT2. F494Del is not present in gnomAD. F494Del 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.

F494Del Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
26496715 2015 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

F494Del 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

F494Del has 28 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
466 14.6 D466E
467 10.9
468 13 L468F L468R L468X
469 14.6
470 11 N470D
471 8.4 F471X
472 13.9 R472C R472X
473 13.7 T473P
475 12.7 Y475C Y475Del
486 11.9
487 10.8 G487R G487S
488 13.3 R488C R488H
489 9.1 I489F I489I
490 5.2 A490P A490T
491 5.9 V491I
492 7.8 H492Y
493 5.5 Y493C Y493F Y493H Y493Ins
495 6.6 K495X
496 7.3
497 10.9 W497L W497X
498 5.9
499 8.6
500 11.9 I500Del
501 11.2 D501H D501N D501Y
502 10.7 M502I
503 14
505 14.9 A505V
537 14.3 R537W