C265S Summary

KCNH2 C265S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C265S is not present in gnomAD. C265S 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.


C265S 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.

C265S 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 0.613 -1.658 0.011 1

C265S 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
250 14.7
251 14.2 P251A
252 13.7 R252fsX R252Q
253 13.2
254 12.6 H254Q H254X
255 12
256 11.4
257 10.7 N257H
258 10.1 P258L
259 9.3 D259N D259X
260 8.5 A260V
261 7.6 S261X
262 6.6 G262fsX G262X
263 5.4
264 3.8
266 3.8 S266G
267 5.4
268 6.6 A268X
269 7.6
270 8.5
271 9.3 R271L
272 10.1
273 10.7 R273Q R273X
274 11.4 E274X
275 12 S275R
276 12.6 C276X
277 13.2
278 13.7
279 14.2
280 14.7