K443R Summary

SCN5A K443R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K443R is not present in gnomAD. K443R has been functionally characterized in 0 papers. Other variants at the same resdue are K443E .K443I .K443N .K443N .K443Q .K443R .K443T . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

K443R 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 0.426

K443R 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
428 14.7 E428K
429 14.2 E429K p.E429del
430 13.7
431 13.2
432 12.6
433 12 R433C
434 11.4
435 10.7
436 10.1
437 9.3
438 8.5
439 7.6
440 6.6
441 5.4
442 3.8
444 3.8
445 5.4 H445D
446 6.6 E446K
447 7.6 A447G
448 8.5
449 9.3 T449A
450 10.1
451 10.7
452 11.4
453 12 V453M
454 12.6
455 13.2
456 13.7 V456M
457 14.2
458 14.7 R458C R458H