G969D Summary

KCNH2 G969D was found in 0 papers (see below) with a total of 1 carrier: 0 had LQT2. G969D is present in 1 out of 233770 alleles in gnomAD (0.000428%). G969D 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.


G969D 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.

G969D 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
-3 0.529 -0.667 0.392 0

G969D 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
954 14.7 R954C R954H
955 14.2 L955V
956 13.7
957 13.2
958 12.6 F958L
959 12
960 11.4 S960N
961 10.7 P961X
962 10.1
963 9.3 P963T
964 8.5
965 7.6 G964X G965fsX G965R G965X
966 6.6 E966A E966K
967 5.4 P967L P967X S967X
968 3.8 P968A P968fsX P968L
970 3.8 G970A
971 5.4
972 6.6 P972H P972S
973 7.6 L973X
974 8.5 M974L
975 9.3
976 10.1
977 10.7 C977F C977S C977W C977Y
978 11.4 E978K E978X
979 12 K979R
980 12.6
981 13.2 S981G S981N S981X
982 13.7 D982N
983 14.2 T983I T983X
984 14.7 C984fsX