K432Q Summary

SCN5A K432Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K432Q is not present in gnomAD. K432Q has been functionally characterized in 0 papers. Other variants at the same resdue are K432E .K432M .K432N .K432N .K432Q .K432R .K432T . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

K432Q 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.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.392

K432Q has 30 neighbors within 15 ångströms that have been found in individuals.

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.

ResidueNumber Distance(Å) Variants
417 14.7
418 14.2
419 13.7
420 13.2
421 12.6
422 12
423 11.4
424 10.7 I424M
425 10.1
426 9.3
427 8.5
428 7.6 E428K
429 6.6 E429K p.E429del
430 5.4
431 3.8
433 3.8 R433C
434 5.4
435 6.6
436 7.6
437 8.5
438 9.3
439 10.1
440 10.7
441 11.4
442 12
443 12.6
444 13.2
445 13.7 H445D
446 14.2 E446K
447 14.7 A447G