F1000I Summary

KCNH2 F1000I was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F1000I is not present in gnomAD. F1000I 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.

F1000I 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.

F1000I 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 -1.994 0.51 -1

F1000I 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
985 14.7 N985S N985X
986 14.2 P986fsX P986L P986T
987 13.7 L987fsX L987P L987X
988 13.2 S988A S988L S988P
989 12.6 G989D G989S
990 12 A990T
991 11.4 F991fsX
992 10.7
993 10.1
994 9.3
995 8.5
996 7.6 N996I N996X
997 6.6 I997X
998 5.4
999 3.8 S999X
1001 3.8 W1001C W1001X
1002 5.4 G1002E
1003 6.6 D1003H D1003Y
1004 7.6 S1004I S1004T
1005 8.5 R1005fsX R1005Q
1006 9.3 G1006fsX G1006V
1007 10.1 R1007C R1007H
1008 10.7
1009 11.4 Y1009X
1010 12
1011 12.6 E1011K
1012 13.2 L1012fsX
1013 13.7
1014 14.2 R1014fsX R1014X
1015 14.7 C1015Y