I1025L Summary

KCNH2 I1025L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I1025L is not present in gnomAD. I1025L 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.

I1025L 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.

I1025L 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 0.48 -0.381 0 -1

I1025L 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
1010 14.7
1011 14.2 E1011K
1012 13.7 L1012fsX
1013 13.2
1014 12.6 R1014fsX R1014X
1015 12 C1015Y
1016 11.4
1017 10.7 A1017fsX A1017S A1017T A1017V
1018 10.1 P1018A P1018L
1019 9.3
1020 8.5
1021 7.6 S1021fsX S1021N
1022 6.6
1023 5.4 L1023Del L1023P
1024 3.8
1026 3.8 P1026R
1027 5.4 L1027I
1028 6.6 S1028Del
1029 7.6 S1029fsX
1030 8.5 P1030L P1030X
1031 9.3 G1031C G1031fsX G1031X
1032 10.1 R1032fsX R1032P R1032Q R1032W R1032X
1033 10.7 R1033fsX R1033Q R1033W R1033X
1034 11.4 P1034fsX P1034X
1035 12 R1035fsX R1035Q R1035W R1035X
1036 12.6 G1036D G1036Del G1036fsX G1036X
1037 13.2 D1037E D1037fsX D1037N D1037X
1038 13.7 V1038fsX V1038L V1038M V1038X
1039 14.2 E1039X
1040 14.7