R513C Summary

SCN5A R513C was found in 2 papers (see below) with a total of 5 carriers: 0 had BrS1, 0 had LQT3, and 3 had other disease. R513C is present in 5 out of 229362 alleles in gnomAD (minor allele frequency of 0.00218%). R513C has been functionally characterized in 0 papers. Other variants at the same resdue are R513C .R513G .R513H .R513L .R513P .R513S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R513C Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2887840220170001AV block
2755463220170002CM
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

R513C 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 0.028 -1.71 possiblydamaging 0.62 3.767 2.36 -8 0.485

R513C 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
498 14.7
499 14.2
500 13.7
501 13.2
502 12.6
503 12
504 11.4 R504T
505 10.7
506 10.1 M506K
507 9.3
508 8.5
509 7.6
510 6.6
511 5.4
512 3.8 T512I
514 3.8 G514C
515 5.4
516 6.6
517 7.6
518 8.5
519 9.3
520 10.1 M520V
521 10.7 K521E
522 11.4
523 12 R523C R523H
524 12.6 S524Y
525 13.2
526 13.7 R526C R526H
527 14.2 G527R G527R
528 14.7 S528R S528R S528R