E975D Summary

KCNH2 E975D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E975D is not present in gnomAD. E975D 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.


E975D 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.

E975D 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 0.469 -0.183 0.001 2

E975D 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
960 14.7 S960N
961 14.2 P961X
962 13.7
963 13.2 P963T
964 12.6
965 12 G964X G965fsX G965R G965X
966 11.4 E966A E966K
967 10.7 P967L P967X S967X
968 10.1 P968A P968fsX P968L
969 9.3 G969D G969X
970 8.5 G970A
971 7.6
972 6.6 P972H P972S
973 5.4 L973X
974 3.8 M974L
976 3.8
977 5.4 C977F C977S C977W C977Y
978 6.6 E978K E978X
979 7.6 K979R
980 8.5
981 9.3 S981G S981N S981X
982 10.1 D982N
983 10.7 T983I T983X
984 11.4 C984fsX
985 12 N985S N985X
986 12.6 P986fsX P986L P986T
987 13.2 L987fsX L987P L987X
988 13.7 S988A S988L S988P
989 14.2 G989D G989S
990 14.7 A990T