R533P Summary

SCN5A R533P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R533P is not present in gnomAD. R533P has been functionally characterized in 0 papers. Other variants at the same resdue are R533C .R533G .R533H .R533L .R533P .R533S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R533P 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 0.653

R533P 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
518 14.7
519 14.2
520 13.7 M520V
521 13.2 K521E
522 12.6
523 12 R523C R523H
524 11.4 S524Y
525 10.7
526 10.1 R526C R526H
527 9.3 G527R G527R
528 8.5 S528R S528R S528R
529 7.6
530 6.6 F530V
531 5.4 T531A
532 3.8 F532C F532L F532L F532L
534 3.8
535 5.4 R535Q
536 6.6 D536H
537 7.6
538 8.5
539 9.3
540 10.1
541 10.7
542 11.4
543 12
544 12.6
545 13.2
546 13.7
547 14.2
548 14.7