I512F Summary

KCNH2 I512F was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I512F is not present in gnomAD. I512F 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 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


I512F 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.

I512F 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 0.841 -3.582 0.621 0

I512F 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
497 14.7 W497L W497X
498 14.2
499 13.7
500 13.2 I500Del
501 12.6 D501H D501N D501Y
502 12 M502I
503 11.4
504 10.7 A504V
505 10.1 A505V
506 9.3 I506V
507 8.5 P507L P507S
508 7.6
509 6.6 D509N
510 5.4
511 3.8
513 3.8
514 5.4 G514S
515 6.6
516 7.6
517 8.5
518 9.3
519 10.1
520 10.7
521 11.4
522 12 G522E
523 12.6
524 13.2
525 13.7 K525N
526 14.2
527 14.7