R493W Summary

SCN5A R493W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R493W is not present in gnomAD. R493W has been functionally characterized in 0 papers. Other variants at the same resdue are R493G .R493K .R493M .R493S .R493S .R493T .R493W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R493W 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 0.472

R493W 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
478 14.7
479 14.2
480 13.7 K480N K480N
481 13.2 R481Q R481W
482 12.6
483 12
484 11.4
485 10.7
486 10.1
487 9.3
488 8.5
489 7.6
490 6.6
491 5.4
492 3.8
494 3.8
495 5.4
496 6.6
497 7.6
498 8.5
499 9.3
500 10.1
501 10.7
502 11.4
503 12
504 12.6 R504T
505 13.2
506 13.7 M506K
507 14.2
508 14.7