K495Q Summary

KCNH2 K495Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. K495Q is not present in gnomAD. K495Q 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.

K495Q 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.

K495Q 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 0.865 -3.565 0.989 1

K495Q has 17 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
471 14.2 F471X
475 14.2 Y475C Y475Del
477 15
489 13 I489F I489I
490 10.2 A490P A490T
491 8.3 V491I
492 8.1 H492Y
493 9.3 Y493C Y493F Y493H Y493Ins
494 6.6 F494Del
496 5
497 9.5 W497L W497X
498 9.2
499 8.3
500 11.4 I500Del
501 13 D501H D501N D501Y
502 13.3 M502I
537 14.2 R537W