A268G Summary

KCNH2 A268G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A268G is not present in gnomAD. A268G 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.


A268G 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.

A268G 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 0.472 -0.853 0.023 -2

A268G 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
253 14.7
254 14.2 H254Q H254X
255 13.7
256 13.2
257 12.6 N257H
258 12 P258L
259 11.4 D259N D259X
260 10.7 A260V
261 10.1 S261X
262 9.3 G262fsX G262X
263 8.5
264 7.6
265 6.6
266 5.4 S266G
267 3.8
269 3.8
270 5.4
271 6.6 R271L
272 7.6
273 8.5 R273Q R273X
274 9.3 E274X
275 10.1 S275R
276 10.7 C276X
277 11.4
278 12
279 12.6
280 13.2
281 13.7 R281fsX R281X
282 14.2 A282X
283 14.7