F958S Summary

KCNH2 F958S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F958S is not present in gnomAD. F958S 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.

F958S 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.

F958S 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 0.529 -0.553 0.276 -1

F958S 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
943 14.7
944 14.2 E944D
945 13.7
946 13.2 P946fsX P946R
947 12.6 G947D
948 12 R948C R948H R948S
949 11.4 S949R
950 10.7
951 10.1
952 9.3 P952S P952T
953 8.5
954 7.6 R954C R954H
955 6.6 L955V
956 5.4
957 3.8
959 3.8
960 5.4 S960N
961 6.6 P961X
962 7.6
963 8.5 P963T
964 9.3
965 10.1 G964X G965fsX G965R G965X
966 10.7 E966A E966K
967 11.4 P967L P967X S967X
968 12 P968A P968fsX P968L
969 12.6 G969D G969X
970 13.2 G970A
971 13.7
972 14.2 P972H P972S
973 14.7 L973X