E1011A Summary

KCNH2 E1011A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E1011A is not present in gnomAD. E1011A 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.

E1011A 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.

E1011A 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 0.738 -2.775 0.993 -1

E1011A 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
996 14.7 N996I N996X
997 14.2 I997X
998 13.7
999 13.2 S999X
1000 12.6
1001 12 W1001C W1001X
1002 11.4 G1002E
1003 10.7 D1003H D1003Y
1004 10.1 S1004I S1004T
1005 9.3 R1005fsX R1005Q
1006 8.5 G1006fsX G1006V
1007 7.6 R1007C R1007H
1008 6.6
1009 5.4 Y1009X
1010 3.8
1012 3.8 L1012fsX
1013 5.4
1014 6.6 R1014fsX R1014X
1015 7.6 C1015Y
1016 8.5
1017 9.3 A1017fsX A1017S A1017T A1017V
1018 10.1 P1018A P1018L
1019 10.7
1020 11.4
1021 12 S1021fsX S1021N
1022 12.6
1023 13.2 L1023Del L1023P
1024 13.7
1025 14.2
1026 14.7 P1026R