E944Q Summary

KCNH2 E944Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E944Q is not present in gnomAD. E944Q 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.


E944Q 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.

E944Q 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 0.613 -1.548 0.928 2

E944Q 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
929 14.7
930 14.2
931 13.7 P931L
932 13.2
933 12.6
934 12
935 11.4
936 10.7
937 10.1 S937N
938 9.3
939 8.5
940 7.6
941 6.6
942 5.4
943 3.8
945 3.8
946 5.4 P946fsX P946R
947 6.6 G947D
948 7.6 R948C R948H R948S
949 8.5 S949R
950 9.3
951 10.1
952 10.7 P952S P952T
953 11.4
954 12 R954C R954H
955 12.6 L955V
956 13.2
957 13.7
958 14.2 F958L
959 14.7