C1015R Summary

KCNH2 C1015R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C1015R is not present in gnomAD. C1015R 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.

C1015R 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.

C1015R 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 0.591 -1.915 0.01 0

C1015R 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
1000 14.7
1001 14.2 W1001C W1001X
1002 13.7 G1002E
1003 13.2 D1003H D1003Y
1004 12.6 S1004I S1004T
1005 12 R1005fsX R1005Q
1006 11.4 G1006fsX G1006V
1007 10.7 R1007C R1007H
1008 10.1
1009 9.3 Y1009X
1010 8.5
1011 7.6 E1011K
1012 6.6 L1012fsX
1013 5.4
1014 3.8 R1014fsX R1014X
1016 3.8
1017 5.4 A1017fsX A1017S A1017T A1017V
1018 6.6 P1018A P1018L
1019 7.6
1020 8.5
1021 9.3 S1021fsX S1021N
1022 10.1
1023 10.7 L1023Del L1023P
1024 11.4
1025 12
1026 12.6 P1026R
1027 13.2 L1027I
1028 13.7 S1028Del
1029 14.2 S1029fsX
1030 14.7 P1030L P1030X