C276W Summary

KCNH2 C276W was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C276W is not present in gnomAD. C276W 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.


C276W 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.

C276W 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 0.558 -1.305 0.991 -2

C276W 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
261 14.7 S261X
262 14.2 G262fsX G262X
263 13.7
264 13.2
265 12.6
266 12 S266G
267 11.4
268 10.7 A268X
269 10.1
270 9.3
271 8.5 R271L
272 7.6
273 6.6 R273Q R273X
274 5.4 E274X
275 3.8 S275R
277 3.8
278 5.4
279 6.6
280 7.6
281 8.5 R281fsX R281X
282 9.3 A282X
283 10.1
284 10.7 S284X
285 11.4 A285fsX A285V
286 12 D286X
287 12.6 D287fsX
288 13.2
289 13.7 E289K
290 14.2
291 14.7