E942D Summary

KCNH2 E942D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E942D is not present in gnomAD. E942D 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.


E942D 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.

E942D 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 0.466 -0.445 0 3

E942D 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
927 14.7 W927C W927G W927L W927S W927X
928 14.2 G928E G928fsX
929 13.7
930 13.2
931 12.6 P931L
932 12
933 11.4
934 10.7
935 10.1
936 9.3
937 8.5 S937N
938 7.6
939 6.6
940 5.4
941 3.8
943 3.8
944 5.4 E944D
945 6.6
946 7.6 P946fsX P946R
947 8.5 G947D
948 9.3 R948C R948H R948S
949 10.1 S949R
950 10.7
951 11.4
952 12 P952S P952T
953 12.6
954 13.2 R954C R954H
955 13.7 L955V
956 14.2
957 14.7