K442M Summary

SCN5A K442M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K442M is not present in gnomAD. K442M has been functionally characterized in 0 papers. Other variants at the same resdue are K442E .K442M .K442N .K442N .K442Q .K442R .K442T . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

K442M 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 0.618

K442M 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
427 14.7
428 14.2 E428K
429 13.7 E429K p.E429del
430 13.2
431 12.6
432 12
433 11.4 R433C
434 10.7
435 10.1
436 9.3
437 8.5
438 7.6
439 6.6
440 5.4
441 3.8
443 3.8
444 5.4
445 6.6 H445D
446 7.6 E446K
447 8.5 A447G
448 9.3
449 10.1 T449A
450 10.7
451 11.4
452 12
453 12.6 V453M
454 13.2
455 13.7
456 14.2 V456M
457 14.7