G381A Summary

KCNH2 G381A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G381A is not present in gnomAD. G381A 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 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


G381A 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.

G381A 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 0.916 -5.652 0.987 0

G381A 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
366 14.7 R366Q R366X
367 14.2 T367S
368 13.7 H368Y
369 13.2 N369K
370 12.6
371 12
372 11.4
373 10.7
374 10.1
375 9.3
376 8.5 Q376R Q376sp
377 7.6
378 6.6
379 5.4 S379Y
380 3.8 L380X
382 3.8 A382T
383 5.4
384 6.6
385 7.6
386 8.5 P386X
387 9.3
388 10.1
389 10.7
390 11.4
391 12 Q391X
392 12.6
393 13.2 P393L
394 13.7 R394C R394H
395 14.2
396 14.7