K373Q Summary

KCNH2 K373Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. K373Q is not present in gnomAD. K373Q has been functionally characterized in 0 papers. This residue is located in a Non_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


K373Q 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.

K373Q 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 0.883 -3.18 0.999 1

K373Q has 30 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
358 14.7
359 14.2 I359V
360 13.7
361 13.2
362 12.6
363 12 I363X
364 11.4 K364X
365 10.7 E365G
366 10.1 R366Q R366X
367 9.3 T367S
368 8.5 H368Y
369 7.6 N369K
370 6.6
371 5.4
372 3.8
374 3.8
375 5.4
376 6.6 Q376R Q376sp
377 7.6
378 8.5
379 9.3 S379Y
380 10.1 L380X
381 10.7
382 11.4 A382T
383 12
384 12.6
385 13.2
386 13.7 P386X
387 14.2
388 14.7