PROS1 Q238X - GET-Evidence

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

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Curation:
Currentness:

PROS1 Q238X

(PROS1 Gln238Stop)


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 (9 hits -- see all)
  • Protein S gene analysis reveals the presence of a ...
    One of these mutations (Q238X) also cosegregates with both type I and III PS ... By contrast, no cosegregating PROS1 mutation has been found in any of the six ...
    www.ncbi.nlm.nih.gov/pubmed/10447256
  • Functional characterization of twelve natural PROS1 mutations ...
    The molecular mechanisms by which PROS1 mutations result in protein S ... expression of 12 natural PROS1 mutations associated with protein S deficiency. ...
    www.haematologica.org/cgi/reprint/haematol.12090v1.pdf
  • 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
  • ESHG Posters 17
    1Faculté de Médecine CHUS, Sherbrooke, PQ, CANADA, 2Rockefeller University, New ... Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that ...
    www.medacad.org/eshg/abstracts/posters17.htm
  • PubMed: 10447256
    One of these mutations (Q238X) also cosegregates with both type I and III PS ... By contrast, no cosegregating PROS1 mutation has been found in any of the six ...
    www.genome.jp/dbget-bin/www_bget?pubmed+10447256
  • OMIM: 176880
    One of these mutations, Q238X (176880.0007), cosegregated with both type I and ... in exon 8 of the PROS1 gene, resulting in a gln238-to-ter (Q238X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?mim:176880
  • 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
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... more complex, with many cases not being explained by a PROS1 mutation. ( view less ) ...
    www.esrnexus.com/advsearch.aspx?like=14907523

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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