G262A Summary

KCNH2 G262A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G262A is not present in gnomAD. G262A 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.


G262A 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.

G262A 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 0.543 -0.576 0.025 0

G262A 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
247 14.7 Q247R Q247X
248 14.2
249 13.7
250 13.2
251 12.6 P251A
252 12 R252fsX R252Q
253 11.4
254 10.7 H254Q H254X
255 10.1
256 9.3
257 8.5 N257H
258 7.6 P258L
259 6.6 D259N D259X
260 5.4 A260V
261 3.8 S261X
263 3.8
264 5.4
265 6.6
266 7.6 S266G
267 8.5
268 9.3 A268X
269 10.1
270 10.7
271 11.4 R271L
272 12
273 12.6 R273Q R273X
274 13.2 E274X
275 13.7 S275R
276 14.2 C276X
277 14.7