R517M Summary

SCN5A R517M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R517M is not present in gnomAD. R517M has been functionally characterized in 0 papers. Other variants at the same resdue are R517G .R517K .R517M .R517S .R517S .R517T .R517W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R517M 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 0.532

R517M 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
502 14.7
503 14.2
504 13.7 R504T
505 13.2
506 12.6 M506K
507 12
508 11.4
509 10.7
510 10.1
511 9.3
512 8.5 T512I
513 7.6 R513C
514 6.6 G514C
515 5.4
516 3.8
518 3.8
519 5.4
520 6.6 M520V
521 7.6 K521E
522 8.5
523 9.3 R523C R523H
524 10.1 S524Y
525 10.7
526 11.4 R526C R526H
527 12 G527R G527R
528 12.6 S528R S528R S528R
529 13.2
530 13.7 F530V
531 14.2 T531A
532 14.7 F532C F532L F532L F532L