I395M Summary

KCNH2 I395M was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I395M is not present in gnomAD. I395M 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.


I395M 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.

I395M 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 0.647 -2.558 0.63 1

I395M 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
380 14.7 L380X
381 14.2
382 13.7 A382T
383 13.2
384 12.6
385 12
386 11.4 P386X
387 10.7
388 10.1
389 9.3
390 8.5
391 7.6 Q391X
392 6.6
393 5.4 P393L
394 3.8 R394C R394H
396 3.8
397 5.4 R397H R397X
398 6.6 W398L W398X
399 7.6
400 8.5 I400N
401 9.3
402 10.1 H402R
403 10.7
404 11.4
405 12
406 12.6
407 13.2
408 13.7
409 14.2 V409L V409M
410 14.7 W410X