A382S Summary

KCNH2 A382S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A382S is not present in gnomAD. A382S 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 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


A382S 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.

A382S 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 0.776 -2.638 0.631 1

A382S 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
367 14.7 T367S
368 14.2 H368Y
369 13.7 N369K
370 13.2
371 12.6
372 12
373 11.4
374 10.7
375 10.1
376 9.3 Q376R Q376sp
377 8.5
378 7.6
379 6.6 S379Y
380 5.4 L380X
381 3.8
383 3.8
384 5.4
385 6.6
386 7.6 P386X
387 8.5
388 9.3
389 10.1
390 10.7
391 11.4 Q391X
392 12
393 12.6 P393L
394 13.2 R394C R394H
395 13.7
396 14.2
397 14.7 R397H R397X