D411N Summary

KCNH2 D411N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D411N is not present in gnomAD. D411N 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.


D411N 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.

D411N 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 0.932 -4.751 1 1

D411N has 51 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 11
400 13.2 I400N
401 12.9
402 10.8 H402R
403 13
404 10.1
405 10.3
406 9.1
407 5.2
408 5.1
409 6.3 V409L V409M
410 5.4 W410X
412 5.7 W412X
413 7 L413P
414 5.3 I414fsX
415 7.3
416 10.2
417 10.3
418 10.6
419 13.1
459 14.6
462 11.5 M462Ins
463 11.6 F463L
465 12.6
466 9.1 D466E
467 13.5
468 14.9 L468F L468R L468X
469 10.6
470 10.7 N470D
473 11.8 T473P
474 13.3 T474I
497 14.7 W497L W497X
501 13.8 D501H D501N D501Y
531 13.6 R531Del R531Q R531W
532 12.8
533 12.8
534 9 R534C
535 8.7 V535M
536 11.4 A536X
537 10 R537W
538 6.1
539 10.6
540 10.1 D540fsX
541 6 R541C R541H
542 6.6
543 12.2 S543fsX
544 11.7 E544A E544fsX
545 12.9
548 13.3
551 14.5 F551L
552 13.4 L552S