I336V Summary

KCNH2 I336V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I336V is not present in gnomAD. I336V has been functionally characterized in 0 papers. This residue is located in a Mild_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.


I336V 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.

I336V 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 0.309 -0.712 0.041 2

I336V 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
321 14.7 D321Y
322 14.2
323 13.7 D323E D323N
324 13.2 L324L
325 12.6 V325M
326 12 R326C R326fsX R326H
327 11.4 Y327H
328 10.7 R328C R328fsX R328H
329 10.1
330 9.3 I330V
331 8.5 S331N S331T
332 7.6
333 6.6
334 5.4 P334L
335 3.8 Q335X
337 3.8 T337S T337X
338 5.4
339 6.6
340 7.6 F340L
341 8.5
342 9.3 D342A D342V D342X
343 10.1 L343fsX
344 10.7
345 11.4 G345S
346 12 D346E D346N D346Y
347 12.6 P347S
348 13.2
349 13.7
350 14.2
351 14.7 S351L