G993V Summary

KCNH2 G993V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G993V is not present in gnomAD. G993V has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.

G993V 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.

G993V 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 0.718 -2.593 0.798 -2

G993V 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
978 14.7 E978K E978X
979 14.2 K979R
980 13.7
981 13.2 S981G S981N S981X
982 12.6 D982N
983 12 T983I T983X
984 11.4 C984fsX
985 10.7 N985S N985X
986 10.1 P986fsX P986L P986T
987 9.3 L987fsX L987P L987X
988 8.5 S988A S988L S988P
989 7.6 G989D G989S
990 6.6 A990T
991 5.4 F991fsX
992 3.8
994 3.8
995 5.4
996 6.6 N996I N996X
997 7.6 I997X
998 8.5
999 9.3 S999X
1000 10.1
1001 10.7 W1001C W1001X
1002 11.4 G1002E
1003 12 D1003H D1003Y
1004 12.6 S1004I S1004T
1005 13.2 R1005fsX R1005Q
1006 13.7 G1006fsX G1006V
1007 14.2 R1007C R1007H
1008 14.7