E357Q Summary

KCNH2 E357Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E357Q is not present in gnomAD. E357Q 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.


E357Q 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.

E357Q 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 0.603 -1.712 0.23 3

E357Q 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
342 14.7 D342A D342V D342X
343 14.2 L343fsX
344 13.7
345 13.2 G345S
346 12.6 D346E D346N D346Y
347 12 P347S
348 11.4
349 10.7
350 10.1
351 9.3 S351L
352 8.5
353 7.6 T353S
354 6.6
355 5.4 D355G
356 3.8 R356C R356H
358 3.8
359 5.4 I359V
360 6.6
361 7.6
362 8.5
363 9.3 I363X
364 10.1 K364X
365 10.7 E365G
366 11.4 R366Q R366X
367 12 T367S
368 12.6 H368Y
369 13.2 N369K
370 13.7
371 14.2
372 14.7