D943E Summary

KCNH2 D943E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D943E is not present in gnomAD. D943E 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.


D943E 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.

D943E 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 0.538 -0.284 0.005 2

D943E 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
928 14.7 G928E G928fsX
929 14.2
930 13.7
931 13.2 P931L
932 12.6
933 12
934 11.4
935 10.7
936 10.1
937 9.3 S937N
938 8.5
939 7.6
940 6.6
941 5.4
942 3.8
944 3.8 E944D
945 5.4
946 6.6 P946fsX P946R
947 7.6 G947D
948 8.5 R948C R948H R948S
949 9.3 S949R
950 10.1
951 10.7
952 11.4 P952S P952T
953 12
954 12.6 R954C R954H
955 13.2 L955V
956 13.7
957 14.2
958 14.7 F958L