R481G Summary

SCN5A R481G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R481G is not present in gnomAD. R481G has been functionally characterized in 0 papers. Other variants at the same resdue are R481G .R481L .R481P .R481Q .R481W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R481G 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 0.454

R481G 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
466 14.7 L466F L466F
467 14.2
468 13.7 P468L
469 13.2
470 12.6 N470K N470K
471 12
472 11.4
473 10.7
474 10.1 R474K
475 9.3 R475K R475S R475S
476 8.5
477 7.6
478 6.6
479 5.4
480 3.8 K480N K480N
482 3.8
483 5.4
484 6.6
485 7.6
486 8.5
487 9.3
488 10.1
489 10.7
490 11.4
491 12
492 12.6
493 13.2 R493K
494 13.7
495 14.2
496 14.7