F406V Summary

KCNH2 F406V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F406V is not present in gnomAD. F406V 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.

F406V 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.

F406V 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 0.943 -6.655 0.63 -1

F406V has 27 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
398 13.2 W398L W398X
399 11.5
400 7.8 I400N
401 8.7
402 11 H402R
403 10.9
404 6
405 5.8
407 5.4
408 6.8
409 6.6 V409L V409M
410 6.4 W410X
411 9.1
412 12.1 W412X
413 10.4 L413P
414 11.7 I414fsX
462 12.4 M462Ins
465 11.8
466 11.4 D466E
468 13.4 L468F L468R L468X
469 9
470 12.1 N470D
472 13.1 R472C R472X
473 10.4 T473P
474 12.2 T474I
538 14.1
541 12 R541C R541H