G246T Summary

KCNH2 G246T was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G246T is not present in gnomAD. G246T 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.

G246T 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.

G246T 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

G246T 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
231 14.7
232 14.2 R232C R232P
233 13.7 A233S
234 13.2 L234Del
235 12.6
236 12 G236V
237 11.4
238 10.7 G238D G238R G238S
239 10.1 S239P S239X
240 9.3 P240L
241 8.5 P241fsX P241L P241S
242 7.6 R242C R242X
243 6.6 S243R S243X
244 5.4 A244E A244G
245 3.8 P245R
247 3.8 Q247R Q247X
248 5.4
249 6.6
250 7.6
251 8.5 P251A
252 9.3 R252fsX R252Q
253 10.1
254 10.7 H254Q H254X
255 11.4
256 12
257 12.6 N257H
258 13.2 P258L
259 13.7 D259N D259X
260 14.2 A260V
261 14.7 S261X