H485L Summary

KCNH2 H485L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H485L is not present in gnomAD. H485L 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.


H485L 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.

H485L 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 0.913 -8.614 0.941 -3

H485L has 29 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
8 14.2
9 13.9 A9T A9V
398 8.6 W398L W398X
399 7.7
400 10.3 I400N
401 11.5
402 13.8 H402R
469 14.4
470 14.1 N470D
471 11.6 F471X
472 8.1 R472C R472X
473 10.1 T473P
474 9.3 T474I
475 10.8 Y475C Y475Del
476 14.4 V476I
477 14.5
480 13.6 E480V
481 14.1
482 10.7 V482A
483 7.7 V483I
484 4.1
486 5
487 6.9 G487R G487S
488 6.6 R488C R488H
489 7.9 I489F I489I
490 10.9 A490P A490T
491 12.7 V491I
492 13.8 H492Y
493 14.9 Y493C Y493F Y493H Y493Ins