A253P Summary

KCNH2 A253P was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A253P is not present in gnomAD. A253P 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.

A253P 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.

A253P 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 -0.897 0 1

A253P 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
238 14.7 G238D G238R G238S
239 14.2 S239P S239X
240 13.7 P240L
241 13.2 P241fsX P241L P241S
242 12.6 R242C R242X
243 12 S243R S243X
244 11.4 A244E A244G
245 10.7 P245R
246 10.1
247 9.3 Q247R Q247X
248 8.5
249 7.6
250 6.6
251 5.4 P251A
252 3.8 R252fsX R252Q
254 3.8 H254Q H254X
255 5.4
256 6.6
257 7.6 N257H
258 8.5 P258L
259 9.3 D259N D259X
260 10.1 A260V
261 10.7 S261X
262 11.4 G262fsX G262X
263 12
264 12.6
265 13.2
266 13.7 S266G
267 14.2
268 14.7 A268X