A448G Summary

KCNH2 A448G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A448G is not present in gnomAD. A448G has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


A448G 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.

A448G 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 0.565 -1.231 0.069 0

A448G 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
433 14.7
434 14.2
435 13.7 E435G E435X
436 13.2 T436M
437 12.6
438 12 E438K E438X
439 11.4
440 10.7 P440L
441 10.1 P441L P441R
442 9.3
443 8.5 T443fsX T443N
444 7.6 E444D E444K
445 6.6
446 5.4
447 3.8 Y447X
449 3.8
450 5.4
451 6.6 P451L
452 7.6
453 8.5
454 9.3
455 10.1
456 10.7 D456Y
457 11.4 L457P
458 12
459 12.6
460 13.2 D460fsX
461 13.7
462 14.2 M462Ins
463 14.7 F463L