PRLHR P305L - GET-Evidence

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

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Curation:
Currentness:

PRLHR P305L

(PRLHR Pro305Leu)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr10:120353843: 3.2% (347/10758) in EVS
  • A @ chr10:120343832: 1.6% (2/124) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (347/10758)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr10:120353843

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr10:120353843

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr10:120343833

 

Other external references
 

    dbSNP
  • rs8192524
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.725 (possibly damaging)
    Web search results (4 hits -- see all)
  • WikiGenes - PRLHR - prolactin releasing hormone receptor
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/2834.html
  • Association of polymorphisms in GPR10, the gene encoding the ...
    ... and P305L) altered amino acid sequence but were also found in U.K. Caucasian ... PRLHR protein, human. Receptors, Cell Surface. Receptors, G-Protein-Coupled ...
    www.ncbi.nlm.nih.gov/pubmed/12716769
  • WikiGenes - PRLH - prolactin releasing hormone
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/51052.html
  • Genatlas sheet
    P305L associated with abnormal blood pressure. Candidate gene. Therapy target. animal or ... Prlhr -/- mice had higher nociceptive thresholds and stronger stress-induced analgesia ...
    genatlas.medecine.univ-paris5.fr/fiche.php?n=2247

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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