E939D Summary

KCNH2 E939D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E939D is not present in gnomAD. E939D 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.

E939D 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.

E939D 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 0.456 -0.703 0.001 1

E939D 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
924 14.7 G924A G924E G924V G924W G924X
925 14.2 G925A G925E G925fsX G925R G925V G925X
926 13.7 P926fsX P926L P926S P926X
927 13.2 W927C W927G W927L W927S W927X
928 12.6 G928E G928fsX
929 12
930 11.4
931 10.7 P931L
932 10.1
933 9.3
934 8.5
935 7.6
936 6.6
937 5.4 S937N
938 3.8
940 3.8
941 5.4
942 6.6
943 7.6
944 8.5 E944D
945 9.3
946 10.1 P946fsX P946R
947 10.7 G947D
948 11.4 R948C R948H R948S
949 12 S949R
950 12.6
951 13.2
952 13.7 P952S P952T
953 14.2
954 14.7 R954C R954H