PROS1 R520G - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PROS1 R520G

(PROS1 Arg520Gly)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (14 hits -- see all)
  • Blood -- Protein S secretion differences of missense mutants ...
    ... in the protein S gene (PROS1) of thrombosis patients were reproduced ... were approximately half of the wild type, being 42% in the case of R520G and 48% in the case of P626L. ...
    bloodjournal.hematologylibrary.org/cgi/content/full/95/1/173
  • Protein S gene analysis reveals the presence of a ...
    By contrast, no cosegregating PROS1 mutation has been found in any of the six ... families with type I and I/III phenotypes where no other PROS1 mutation has been ...
    www.ncbi.nlm.nih.gov/pubmed/10447256
  • Blood -- Protein S secretion differences of missense mutants ...
    ... in the protein S gene (PROS1) of thrombosis patients were reproduced in ... low protein S was found in families with R520G and P626L (group B) mutants. ...
    bloodjournal.hematologylibrary.org/cgi/content/abstract/...
  • Culture medium
    Luteal cells were isolated from mid-developing (5-7 days after ovulation) ... Trilostane, an inhibitor od 3beta-HSD that blocks the conversion of pregnenolone ...
    www.bionewsonline.com/i/1/culture_media_d.htm
  • Mendelian Inheritance in Man Document Reader
    Three types of PROS1 deficiency had been described according to the levels of ... PROS1 activity levels are reduced, whereas total PROS1 antigen levels ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+176880
  • PubMed: 10447256
    By contrast, no cosegregating PROS1 mutation has been found in any of the six ... probably more complex, with many cases not being explained by a PROS1 mutation. ...
    www.genome.jp/dbget-bin/www_bget?pubmed+10447256
  • BioPD Detail Page
    Three types of PROS1 deficiency had been described according to the levels of ... PROS1 activity levels are reduced, whereas total PROS1 antigen levels ...
    biopd.bjmu.edu.cn/PepDetail.asp?ID=P4238
  • BiomedExperts: Protein S secretion differences of missense ...
    'Protein S secretion differences of missense mutants account for phenotypic heterogeneity.' on BiomedExperts. Find the right expert or researcher in 1.8 Million pre ...
    biomedexperts.com/Abstract.bme/10607700/...
  • OMIM: 176880
    ... the PROS1 gene to chromosome 3q11.2 based on an alignment of the PROS1 sequence (GenBank ... in exon 14 of the PROS1 gene, resulting in an arg520-to-gly (R520G) substitution. ...
    www.genome.jp/dbget-bin/www_bget?mim:176880
  • Protein S secretion differences of missense mutants account ...
    To elucidate the molecular background for the heterogeneity in protein S plasma concentrations observed in protein S deficient individuals, the in vitro synthesis of ...
    www.medscape.com/medline/abstract/10607700

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in