G719A Summary

KCNH2 G719A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G719A is not present in gnomAD. G719A 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 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


G719A 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.

G719A 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 0.869 -5.767 0.892 0

G719A has 54 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
672 14.5 R672C R672H
673 14.4
675 14.8
676 10 Q676fsX Q676X
677 13.1 M677T
679 11.2 R679Q R679W
680 10.9
683 11.8
684 14.9
693 14.4 L693X
696 13.5 R696C R696H
697 10 L697X
698 13.9 E698K E698X
699 13.7 E699D
700 7.8
701 8.8
702 13.4
703 12.5
704 9.3 A704T A704V
705 12.6 W705fsX W705X
706 14.3 S706C S706F
707 13.5
708 11.7
710 11.9
711 12.6 I711V
712 10.6 D712N
712 12.8 D712N
713 12.5 M713V
713 12.3 M713V
714 10.6
714 11.8
715 7.6 A715A A715sp A715T A715V
715 14.1 A715A A715sp A715T A715V
716 6.5 V716G
717 6.3 L717P
718 5.5
720 3.8
721 6.1 P721L
722 10
723 11.1 C723G C723R
724 9.1 C723X L724X
725 7.7 Q725fsX Q725R
726 12.5
727 13.7
728 11.4
729 13.6
756 13.1 M756V
759 14 K759N
760 13.7
761 12.6
762 13.6
763 14.6
764 14.6
767 14.5 D767X