A671Del Summary

KCNH2 A671Del was found in 1 paper (see below) with a total of 1 carrier: 1 had LQT2. A671Del is not present in gnomAD. A671Del 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 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


A671Del Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
15840476 2005 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A671Del 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 NA NA NA NA

A671Del has 52 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
539 13.5
540 13.5 D540fsX
543 11.3 S543fsX
544 14.4 E544A E544fsX
546 13.4
549 12.8 V549M
553 15 L553V
654 13.9
657 12.7 G657S G657V
658 10.2
659 14
660 14.1 S660L
660 13.3 S660L
661 11.9 A661V
661 10.4 A661V
662 10.9
662 13.2
663 10.7
664 13.4 Q664X
664 7.4 Q664X
665 11.7 R665Q
665 8.6 R665Q
666 14.6
666 10.4
667 8.2 Y667X
668 14.2 S668L
668 5.2 S668L
669 4.7 G669C G669R G669X
670 4.1
672 4.9 R672C R672H
673 6.9
674 5.7 H674fsX H674Y
675 6.4
675 14.2
676 9.2 Q676fsX Q676X
677 10.6 M677T
678 10.9
678 14.6
679 14.5 R679Q R679W
679 12.3 R679Q R679W
680 14.8
681 14.4 R681W
682 14.4 E682X
701 13.1
702 14.2
705 10.1 W705fsX W705X
706 14.4 S706C S706F
708 14.5
709 12.1
710 10.1
711 13.2 I711V
712 14.9 D712N