A813V Summary

KCNH2 A813V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A813V is not present in gnomAD. A813V 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.


A813V 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.

A813V 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 0.651 -2.862 0.392 0

A813V has 30 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
775 12.9
776 12.3 L776I L776P
777 12.7
778 14 A778T
779 14.7
806 14 G806R
807 10.1 E807X
808 9.5
809 6.8
810 7.6
811 7.3
812 5.9 Y812S
814 4.4
815 7.1
816 9.1 G816V
817 12.8
834 14.9 H834R
835 8.4 R835fsX R835Q R835W
836 11.5
838 13.1 L838R
839 9.9
840 14.3 E840Q
842 14
843 14.5
843 13.7
844 12.8 M844V
853 12.5 W853X
861 14.4 N861H N861I
862 14.9 L862P
863 14.4 R863P R863X