R526C Summary

SCN5A R526C was found in 0 papers (see below) with a total of 12 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R526C is present in 12 out of 274130 alleles in gnomAD (minor allele frequency of 0.004377%). R526C has been functionally characterized in 0 papers. Other variants at the same resdue are R526C .R526G .R526H .R526L .R526P .R526S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R526C 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 -5.5 probablydamaging 0.964 2.902 -1.26 -8 0.66

R526C 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
511 14.7
512 14.2 T512I
513 13.7 R513C
514 13.2 G514C
515 12.6
516 12
517 11.4
518 10.7
519 10.1
520 9.3 M520V
521 8.5 K521E
522 7.6
523 6.6 R523C R523H
524 5.4 S524Y
525 3.8
527 3.8 G527R G527R
528 5.4 S528R S528R S528R
529 6.6
530 7.6 F530V
531 8.5 T531A
532 9.3 F532C F532L F532L F532L
533 10.1 R533C R533H R533S
534 10.7
535 11.4 R535Q
536 12 D536H
537 12.6
538 13.2
539 13.7
540 14.2
541 14.7