D540E Summary

KCNH2 D540E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D540E is not present in gnomAD. D540E 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.


D540E 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.

D540E 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 0.786 -3.834 0.971 1

D540E 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 5.8
4 9.4
5 12.9
6 15 G6R
402 11.5 H402R
403 13.8
404 14.5
407 12.5
408 11.1
409 14.2 V409L V409M
411 10.1
412 10.8 W412X
414 13.9 I414fsX
415 12.5
476 12.4 V476I
497 14.2 W497L W497X
532 14.7
533 13.7
534 13.5 R534C
535 9.4 V535M
536 8.7 A536X
537 9.8 R537W
538 7.1
539 4.4
541 5.4 R541C R541H
542 6.2
543 5.1 S543fsX
544 6.6 E544A E544fsX
545 10.6
546 12.3
547 14 A547T
548 11.4
549 10.7 V549M
552 12 L552S
553 14.6 L553V
665 14.8 R665Q
667 14.2 Y667X
669 13.9 G669C G669R G669X
670 10.9
671 13.5 A671Del A671G
673 10
674 9.4 H674fsX H674Y
675 14.9
677 11.5 M677T
678 14.1
681 12.6 R681W
698 13.4 E698K E698X
701 14.4
702 11.1
705 13.5 W705fsX W705X
706 14.7 S706C S706F