G669A Summary

KCNH2 G669A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G669A is not present in gnomAD. G669A has been functionally characterized in 0 papers. This residue is located in a Non_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


G669A 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.

G669A 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 0.812 -5.813 0.739 0

G669A has 43 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 14.2
540 13.9 D540fsX
543 13.5 S543fsX
546 14.4
658 13.9
661 13.2 A661V
661 15 A661V
662 13.2
663 11.6
664 9.5 Q664X
665 13.1 R665Q
665 10.8 R665Q
666 8.8
667 7.4 Y667X
668 3.6 S668L
670 3.6
671 4.7 A671Del A671G
672 3.9 R672C R672H
673 6.7
674 8.2 H674fsX H674Y
675 12.7
675 9.4
676 10 Q676fsX Q676X
677 11.7 M677T
678 13.8
678 11.5
679 14.3 R679Q R679W
679 11.9 R679Q R679W
682 10.1 E682X
685 14.6 R685C R685H R685P
686 14.4
701 12
702 12.6
704 12.6 A704T A704V
705 6.9 W705fsX W705X
706 10.7 S706C S706F
707 14.4
708 10.6
709 7.6
710 6.8
711 9.6 I711V
712 12.4 D712N
713 15 M713V