RGD Reference Report - The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency. - Rat Genome Database

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The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency.

Authors: Duchemin, J  Gandrille, S  Borgel, D  Feurgard, P  Alhenc-Gelas, M  Matheron, C  Dreyfus, M  Dupuy, E  Juhan-Vague, I  Aiach, M 
Citation: Duchemin J, etal., Blood. 1995 Nov 1;86(9):3436-43.
RGD ID: 11250415
Pubmed: PMID:7579448   (View Abstract at PubMed)

A Ser 460 to Pro mutation of protein S (PS), involving a T to C transition in exon XIII of the protein S alpha (PROS1) gene and known as the Heerlen polymorphism, was found in 16 of 85 symptomatic patients with PS deficiency (18.8%) and only 1 of 113 healthy subjects (0.8%). Another frequent polymorphism was described in exon XV of the PROS1 gene, in the codon for Pro 626 (CCA/CCG). We found that Heerlen polymorphism was associated with allele CCA and not with allele CCG, suggesting a probable transmission by a common ancestor. Most subjects bearing the Ser 460 to Pro mutation were deficient in free PS, but had normal total PS levels. Normal levels of the C4b-binding protein (C4b-BP) isoform containing a beta chain (C4b-BP beta +) ruled out increased C4b-BP beta + as a cause of the free-PS deficiency. The binding curves of the mutated (Heerlen) PS on C4b-BP immobilized on microplates were biphasic, suggesting that one molecule of C4b-BP can bind two molecules of Heerlen PS. Because normal PS binds to C4b-BP with 1:1 stoichiometry, this may explain the free-PS deficiency observed in patients carrying the Ser 460 to Pro mutation.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PROS1Humanprotein S deficiency  IAGP DNA:missense mutation:exon:p.S460P (human)RGD 
Pros1Ratprotein S deficiency  ISOPROS1 (Homo sapiens)DNA:missense mutation:exon:p.S460P (human)RGD 
Pros1Mouseprotein S deficiency  ISOPROS1 (Homo sapiens)DNA:missense mutation:exon:p.S460P (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pros1  (protein S)

Genes (Mus musculus)
Pros1  (protein S (alpha))

Genes (Homo sapiens)
PROS1  (protein S)


Additional Information