E274A Summary

KCNH2 E274A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E274A is not present in gnomAD. E274A 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.


E274A 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.

E274A 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 0.724 -1.989 0.093 -2

E274A 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
259 14.7 D259N D259X
260 14.2 A260V
261 13.7 S261X
262 13.2 G262fsX G262X
263 12.6
264 12
265 11.4
266 10.7 S266G
267 10.1
268 9.3 A268X
269 8.5
270 7.6
271 6.6 R271L
272 5.4
273 3.8 R273Q R273X
275 3.8 S275R
276 5.4 C276X
277 6.6
278 7.6
279 8.5
280 9.3
281 10.1 R281fsX R281X
282 10.7 A282X
283 11.4
284 12 S284X
285 12.6 A285fsX A285V
286 13.2 D286X
287 13.7 D287fsX
288 14.2
289 14.7 E289K