I330L Summary

KCNH2 I330L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I330L is not present in gnomAD. I330L 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.


I330L 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.

I330L 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 0.612 -1.157 0.041 2

I330L 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
315 14.7
316 14.2
317 13.7 N317S
318 13.2
319 12.6 T319T
320 12 S320L S320W S320X
321 11.4 D321Y
322 10.7
323 10.1 D323E D323N
324 9.3 L324L
325 8.5 V325M
326 7.6 R326C R326fsX R326H
327 6.6 Y327H
328 5.4 R328C R328fsX R328H
329 3.8
331 3.8 S331N S331T
332 5.4
333 6.6
334 7.6 P334L
335 8.5 Q335X
336 9.3
337 10.1 T337S T337X
338 10.7
339 11.4
340 12 F340L
341 12.6
342 13.2 D342A D342V D342X
343 13.7 L343fsX
344 14.2
345 14.7 G345S