A408P Summary

KCNH2 A408P was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A408P is not present in gnomAD. A408P 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.


A408P 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.

A408P 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 0.966 -4.758 0.997 -1

A408P has 37 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
3 9.7
5 13.3
400 11.8 I400N
401 10.4
402 9.3 H402R
403 9.6
404 6.2
405 5.5
406 6.8
407 4.8
409 4 V409L V409M
410 7.3 W410X
411 5.1
412 6.7 W412X
413 9.3 L413P
414 9.8 I414fsX
415 11.2
416 13.3
417 14.3
462 14.6 M462Ins
466 12.7 D466E
469 12.2
470 13.3 N470D
473 12.2 T473P
474 12.7 T474I
534 13.9 R534C
535 13.2 V535M
537 13.9 R537W
538 9.9
539 13.2
540 11.1 D540fsX
541 5.8 R541C R541H
542 9
543 12.9 S543fsX
544 10.3 E544A E544fsX
545 11.2
548 13.8