M482R Summary

SCN5A M482R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M482R is not present in gnomAD. M482R has been functionally characterized in 0 papers. Other variants at the same resdue are M482I .M482I .M482I .M482K .M482L .M482L .M482R .M482T .M482V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M482R 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 0.24

M482R 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
467 14.7
468 14.2 P468L
469 13.7
470 13.2 N470K N470K
471 12.6
472 12
473 11.4
474 10.7 R474K
475 10.1 R475K R475S R475S
476 9.3
477 8.5
478 7.6
479 6.6
480 5.4 K480N K480N
481 3.8 R481Q R481W
483 3.8
484 5.4
485 6.6
486 7.6
487 8.5
488 9.3
489 10.1
490 10.7
491 11.4
492 12
493 12.6 R493K
494 13.2
495 13.7
496 14.2
497 14.7