A715G Summary

KCNH2 A715G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A715G is not present in gnomAD. A715G 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


A715G 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.

A715G 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 0.813 -3.263 0.95 0

A715G has 40 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 14.7 R672C R672H
675 13.3
676 9.9 Q676fsX Q676X
677 14 M677T
678 13.9
679 7.8 R679Q R679W
680 10.8
682 12.6 E682X
683 9.5
684 14.2
686 13.5
687 13.4
697 13.6 L697X
700 14.6
701 13
708 12.4
709 14.4
710 11.5
711 8.8 I711V
712 13.3 D712N
712 5.4 D712N
713 6.7 M713V
714 4.9
716 3.9 V716G
717 5.9 L717P
718 14.2
718 4.6
719 7.6
719 14.1
720 9
721 12.4 P721L
722 14.5
724 14 C723X L724X
725 10.6 Q725fsX Q725R
728 12.4
729 13.5
732 14.8
756 13.7 M756V
759 14.3 K759N
760 14.5