R523S Summary

SCN5A R523S was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. R523S is present in 1 out of 239130 alleles in gnomAD (minor allele frequency of 0.000418%). R523S has been functionally characterized in 0 papers. Other variants at the same resdue are R523C .R523G .R523H .R523L .R523P .R523S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R523S 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
Damaging 0.037 -3.27 possiblydamaging 0.579 2.156 -0.29 -3 0.668

R523S 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
508 14.7
509 14.2
510 13.7
511 13.2
512 12.6 T512I
513 12 R513C
514 11.4 G514C
515 10.7
516 10.1
517 9.3
518 8.5
519 7.6
520 6.6 M520V
521 5.4 K521E
522 3.8
524 3.8 S524Y
525 5.4
526 6.6 R526C R526H
527 7.6 G527R G527R
528 8.5 S528R S528R S528R
529 9.3
530 10.1 F530V
531 10.7 T531A
532 11.4 F532C F532L F532L F532L
533 12 R533C R533H R533S
534 12.6
535 13.2 R535Q
536 13.7 D536H
537 14.2
538 14.7