F471Y Summary

KCNH2 F471Y was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F471Y is not present in gnomAD. F471Y 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 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


F471Y 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.

F471Y 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 0.926 -2.763 0.975 3

F471Y has 42 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 11.9 W398L W398X
399 12.1
400 10.8 I400N
401 13.8
402 14.1 H402R
407 13.2
410 14.5 W410X
463 13.9 F463L
464 11.5 I464X
465 10.4
466 9.2 D466E
467 6.4
468 5.9 L468F L468R L468X
469 7
470 5.3 N470D
472 6.1 R472C R472X
473 7.1 T473P
474 10.3 T474I
475 11 Y475C Y475Del
483 12.8 V483I
484 11.9
485 11.6 H485X
486 7.9
487 9.9 G487R G487S
488 12.6 R488C R488H
489 6.5 I489F I489I
490 6.3 A490P A490T
491 10 V491I
492 10.2 H492Y
493 5.8 Y493C Y493F Y493H Y493Ins
494 8.4 F494Del
495 14.2 K495X
496 12.4
497 13.3 W497L W497X
498 8.5
499 13.6
500 14.7 I500Del
501 11.4 D501H D501N D501Y
502 12.1 M502I
505 13.8 A505V
534 13.3 R534C
537 13.7 R537W