F340S Summary

KCNH2 F340S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F340S is not present in gnomAD. F340S 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.


F340S 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.

F340S 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 0.831 -5.193 0.972 -3

F340S 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
325 14.7 V325M
326 14.2 R326C R326fsX R326H
327 13.7 Y327H
328 13.2 R328C R328fsX R328H
329 12.6
330 12 I330V
331 11.4 S331N S331T
332 10.7
333 10.1
334 9.3 P334L
335 8.5 Q335X
336 7.6
337 6.6 T337S T337X
338 5.4
339 3.8
341 3.8
342 5.4 D342A D342V D342X
343 6.6 L343fsX
344 7.6
345 8.5 G345S
346 9.3 D346E D346N D346Y
347 10.1 P347S
348 10.7
349 11.4
350 12
351 12.6 S351L
352 13.2
353 13.7 T353S
354 14.2
355 14.7 D355G