G989C Summary

KCNH2 G989C was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G989C is not present in gnomAD. G989C 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.

G989C 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.

G989C 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 0.663 -2.728 0.069 -2

G989C 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
974 14.7 M974L
975 14.2
976 13.7
977 13.2 C977F C977S C977W C977Y
978 12.6 E978K E978X
979 12 K979R
980 11.4
981 10.7 S981G S981N S981X
982 10.1 D982N
983 9.3 T983I T983X
984 8.5 C984fsX
985 7.6 N985S N985X
986 6.6 P986fsX P986L P986T
987 5.4 L987fsX L987P L987X
988 3.8 S988A S988L S988P
990 3.8 A990T
991 5.4 F991fsX
992 6.6
993 7.6
994 8.5
995 9.3
996 10.1 N996I N996X
997 10.7 I997X
998 11.4
999 12 S999X
1000 12.6
1001 13.2 W1001C W1001X
1002 13.7 G1002E
1003 14.2 D1003H D1003Y
1004 14.7 S1004I S1004T