H402L Summary

KCNH2 H402L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H402L is not present in gnomAD. H402L 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.


H402L 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.

H402L 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 -10.436 0.996 -3

H402L has 50 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 7.4
4 9.1
5 7.3
6 8.7 G6R
7 12.9
8 12.5
399 11.7
400 8.5 I400N
401 5.4
403 4.8
404 6.7
405 9.9
406 11
407 7.4
408 9.3
409 13 V409L V409M
410 13 W410X
411 10.8
412 14.7 W412X
466 14.1 D466E
469 11.8
470 10.9 N470D
471 14.1 F471X
472 13.3 R472C R472X
473 7.4 T473P
474 4.9 T474I
475 8.1 Y475C Y475Del
476 7.2 V476I
477 11.8
478 13.8 A478D
480 12.4 E480V
481 10.2
482 8.7 V482A
483 9.3 V483I
484 10.5
485 13.8 H485X
489 11.9 I489F I489I
492 13.3 H492Y
493 14.2 Y493C Y493F Y493H Y493Ins
537 12.7 R537W
538 10.9
539 14.8
540 11.5 D540fsX
541 8.7 R541C R541H
542 13.7
544 13.5 E544A E544fsX
695 13.2
698 13.4 E698K E698X
699 13.7 E699D
702 13.6