K430M Summary

SCN5A K430M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K430M is not present in gnomAD. K430M has been functionally characterized in 0 papers. Other variants at the same resdue are K430E .K430M .K430N .K430N .K430Q .K430R .K430T . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

K430M 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 0.879

K430M 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
415 14.7
416 14.2 Y416C
417 13.7
418 13.2
419 12.6
420 12
421 11.4
422 10.7
423 10.1
424 9.3 I424M
425 8.5
426 7.6
427 6.6
428 5.4 E428K
429 3.8 E429K p.E429del
431 3.8
432 5.4
433 6.6 R433C
434 7.6
435 8.5
436 9.3
437 10.1
438 10.7
439 11.4
440 12
441 12.6
442 13.2
443 13.7
444 14.2
445 14.7 H445D