E978A Summary

KCNH2 E978A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E978A is not present in gnomAD. E978A 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


E978A 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.

E978A 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 0.482 -0.585 0 -1

E978A 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
963 14.7 P963T
964 14.2
965 13.7 G964X G965fsX G965R G965X
966 13.2 E966A E966K
967 12.6 P967L P967X S967X
968 12 P968A P968fsX P968L
969 11.4 G969D G969X
970 10.7 G970A
971 10.1
972 9.3 P972H P972S
973 8.5 L973X
974 7.6 M974L
975 6.6
976 5.4
977 3.8 C977F C977S C977W C977Y
979 3.8 K979R
980 5.4
981 6.6 S981G S981N S981X
982 7.6 D982N
983 8.5 T983I T983X
984 9.3 C984fsX
985 10.1 N985S N985X
986 10.7 P986fsX P986L P986T
987 11.4 L987fsX L987P L987X
988 12 S988A S988L S988P
989 12.6 G989D G989S
990 13.2 A990T
991 13.7 F991fsX
992 14.2
993 14.7