D259G Summary

KCNH2 D259G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D259G is not present in gnomAD. D259G 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.


D259G 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.

D259G 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 0.553 -1.785 0.023 -2

D259G 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
244 14.7 A244E A244G
245 14.2 P245R
246 13.7
247 13.2 Q247R Q247X
248 12.6
249 12
250 11.4
251 10.7 P251A
252 10.1 R252fsX R252Q
253 9.3
254 8.5 H254Q H254X
255 7.6
256 6.6
257 5.4 N257H
258 3.8 P258L
260 3.8 A260V
261 5.4 S261X
262 6.6 G262fsX G262X
263 7.6
264 8.5
265 9.3
266 10.1 S266G
267 10.7
268 11.4 A268X
269 12
270 12.6
271 13.2 R271L
272 13.7
273 14.2 R273Q R273X
274 14.7 E274X