E438V Summary

KCNH2 E438V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E438V is not present in gnomAD. E438V 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.


E438V 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.

E438V 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 0.535 -4.926 0.23 -2

E438V 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
423 14.7
424 14.2
425 13.7
426 13.2 P426H
427 12.6 Y427C Y427H Y427S
428 12 S428fsX S428L S428X
429 11.4 A429P A429V
430 10.7
431 10.1 F431L
432 9.3
433 8.5
434 7.6
435 6.6 E435G E435X
436 5.4 T436M
437 3.8
439 3.8
440 5.4 P440L
441 6.6 P441L P441R
442 7.6
443 8.5 T443fsX T443N
444 9.3 E444D E444K
445 10.1
446 10.7
447 11.4 Y447X
448 12 A448S A448T
449 12.6
450 13.2
451 13.7 P451L
452 14.2
453 14.7