G947R Summary

KCNH2 G947R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G947R is not present in gnomAD. G947R 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.


G947R 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.

G947R 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 0.524 -0.729 0.994 -1

G947R 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
932 14.7
933 14.2
934 13.7
935 13.2
936 12.6
937 12 S937N
938 11.4
939 10.7
940 10.1
941 9.3
942 8.5
943 7.6
944 6.6 E944D
945 5.4
946 3.8 P946fsX P946R
948 3.8 R948C R948H R948S
949 5.4 S949R
950 6.6
951 7.6
952 8.5 P952S P952T
953 9.3
954 10.1 R954C R954H
955 10.7 L955V
956 11.4
957 12
958 12.6 F958L
959 13.2
960 13.7 S960N
961 14.2 P961X
962 14.7