PROS1 S460P - GET-Evidence

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

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Curation:
Currentness:

PROS1 S460P

(PROS1 Ser460Pro)


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 (21 hits -- see all)
  • Blood -- Absence of Linkage Between Type III Protein S ...
    The A allele of P626A/G was always associated with the P allele of S460P. ... of Alleles for the S460P Polymorphism (PS Heerlen) in Exon 13 of the PROS1 ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../2799
  • Blood -- Absence of Linkage Between Type III Protein S ...
    ... protein S deficiency and the PROS1 and C4BP genes in families ... of the PS gene (PROS1) polymorphisms P626A/G and S460P (PS Heerlen) have been analyzed in a group of 45 ...
    bloodjournal.hematologylibrary.org/cgi/content/.../89/8/2799
  • Protein S gene analysis reveals the presence of a ...
    By contrast, no cosegregating PROS1 mutation has been found in any of ... segregate the P allele of the S460P variant, although this allele does not always cosegregate with the ...
    www.ncbi.nlm.nih.gov/pubmed/10447256
  • Mayo Medical Laboratories
    83003 Clinical: Protein S S460P (Heerlen) Mutation, Blood ... base ... exon XIII of the PROS1 gene, encoding. ... S) 460 to proline (P) change (S460P).(3) The. ...
    mayomedicallaboratories.com/test-catalog/search.php?...
  • DOI: 10.1161/01.ATV.0000181760.55269.6b published online Aug ...
    Arteriosclerosis, Thrombosis, and Vascular Biology is published by the American Heart ... substitution of the protein S alpha PROS1. gene is a frequent. mutation associated with ...
    atvb.ahajournals.org/cgi/reprint/01.ATV.0000181760.55269....
  • In Vivo Clearance of Human Protein S in a Mouse Model ...
    2005;25:2209-2215. Published online before print August 11, 2005, doi: ... Vague I, Aiach M. The Ser 460 to Pro substitution of the protein S alpha PROS1. ...
    atvb.ahajournals.org/cgi/content/full/25/10/2209
  • ASTH Newsletter Dec 05
    least one PROS1 mutation. Seven novel (g-29a, K9T, P35P, T101A, G231R, intron k insert t ... five previously reported (E26A, T37M, R192K, S460P and. intron a del att exon 2-67) ...
    asth.org.au/downloads/Newsletters/ASTH_Newsletter_Dec_05.pdf
  • Absence of linkage between type III protein S deficiency and ...
    ... patterns of the PS gene (PROS1) polymorphisms P626A/G and S460P (PS Heerlen) ... type III protein S deficiency and the PROS1 and C4BP genes in families carrying the ...
    www.medscape.com/medline/abstract/9108398?prt=true
  • 83003 Clinical: Protein S S460P (Heerlen) Mutation, Blood
    transition at base pair 67 in exon XIII of the PROS1 gene, encoding ... protein S S460P substitution results in loss of the N-linked. glycosylation site at N458. ...
    mayomedicallaboratories.com/test-catalog/2010/.../83003
  • Morell, M (M)
    Morell, M (M) :: The encoded primary sequence of a rice seed ADP-glucose ... of the PS gene (PROS1) polymorphisms P626A/G and S460P (PS Heerlen) have been analyzed in ...
    lib.bioinfo.pl/auid:413628

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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