G238S Summary

KCNH2 G238S was found in 1 paper (see below) with a total of 1 carrier: 1 had LQT2. G238S is not present in gnomAD. G238S has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


G238S Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
15840476 2005 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G238S 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
-2 0.555 0.042 0 2

G238S 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
223 14.7
224 14.2
225 13.7
226 13.2
227 12.6
228 12 A228P A228T A228V A228X
229 11.4 E229X
230 10.7 E230D
231 10.1
232 9.3 R232C R232P
233 8.5 A233S
234 7.6 L234Del
235 6.6
236 5.4 G236V
237 3.8
239 3.8 S239P S239X
240 5.4 P240L
241 6.6 P241fsX P241L P241S
242 7.6 R242C R242X
243 8.5 S243R S243X
244 9.3 A244E A244G
245 10.1 P245R
246 10.7
247 11.4 Q247R Q247X
248 12
249 12.6
250 13.2
251 13.7 P251A
252 14.2 R252fsX R252Q
253 14.7