C984Y Summary

KCNH2 C984Y was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C984Y is not present in gnomAD. C984Y 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.

C984Y 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.

C984Y 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 0.661 -2.294 0.99 -4

C984Y 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
969 14.7 G969D G969X
970 14.2 G970A
971 13.7
972 13.2 P972H P972S
973 12.6 L973X
974 12 M974L
975 11.4
976 10.7
977 10.1 C977F C977S C977W C977Y
978 9.3 E978K E978X
979 8.5 K979R
980 7.6
981 6.6 S981G S981N S981X
982 5.4 D982N
983 3.8 T983I T983X
985 3.8 N985S N985X
986 5.4 P986fsX P986L P986T
987 6.6 L987fsX L987P L987X
988 7.6 S988A S988L S988P
989 8.5 G989D G989S
990 9.3 A990T
991 10.1 F991fsX
992 10.7
993 11.4
994 12
995 12.6
996 13.2 N996I N996X
997 13.7 I997X
998 14.2
999 14.7 S999X