A913V Summary

KCNH2 A913V was found in 6 papers (see below) with a total of 83 carriers: 5 had LQT2. A913V is present in 73 out of 151306 alleles in gnomAD (0.048247%). A913V 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.


A913V Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
15840476 2005 2 0 2
23936059 2013 1 0
24606995 2014 1 0 1
26746457 2016 2 2
29622001 2018 1 0 1
Italy Cohort 2020 4 3 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A913V 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
-2 0.502 -0.748 0 0

A913V 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
898 14.7
899 14.2 T899M T899X
900 13.7 E900X
901 13.2 Q901fsX
902 12.6
903 12 G903R
904 11.4 E904X
905 10.7 V905M
906 10.1 S906L
907 9.3 A907X
908 8.5 L908fsX L908X
909 7.6 G909X
910 6.6 P910fsX P910L
911 5.4 G911X
912 3.8 R912Q R912W R912X
914 3.8
915 5.4 A915fsX A915V A915X
916 6.6
917 7.6 P917L
918 8.5
919 9.3
920 10.1 R920fsX R920G R920Q R920W
921 10.7
922 11.4 R922fsX R922Q R922W
923 12 P923fsX P923L P923Q P923X
924 12.6 G924A G924E G924V G924W G924X
925 13.2 G925A G925E G925fsX G925R G925V G925X
926 13.7 P926fsX P926L P926S P926X
927 14.2 W927C W927G W927L W927S W927X
928 14.7 G928E G928fsX