A360E Summary

KCNH2 A360E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A360E is not present in gnomAD. A360E 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.


A360E 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.

A360E 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 0.767 -3.4 0.609 -1

A360E 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
345 14.7 G345S
346 14.2 D346E D346N D346Y
347 13.7 P347S
348 13.2
349 12.6
350 12
351 11.4 S351L
352 10.7
353 10.1 T353S
354 9.3
355 8.5 D355G
356 7.6 R356C R356H
357 6.6 E357D
358 5.4
359 3.8 I359V
361 3.8
362 5.4
363 6.6 I363X
364 7.6 K364X
365 8.5 E365G
366 9.3 R366Q R366X
367 10.1 T367S
368 10.7 H368Y
369 11.4 N369K
370 12
371 12.6
372 13.2
373 13.7
374 14.2
375 14.7