MSTN K153R - GET-Evidence

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

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Curation:
Currentness:

MSTN K153R

(MSTN Lys153Arg)


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

  • C @ chr2:190925077: 8.0% (863/10754) in EVS
  • C @ chr2:190633321: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 8.0% (863/10754)

Publications
 

Genomes
 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr2:190925077

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr2:190925077

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr2:190633322

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr2:190633322

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr2:190633322

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr2:190633322

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr2:190633322

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr2:190633322

 

Other external references
 

    dbSNP
  • rs1805086
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.026 (benign)
    Web search results (7 hits -- see all)
  • Exploration of myostatin polymorphisms and the angiotensin ...
    The MSTN AluI A55T (exon 1), BanII K153R, TaqI E164 K and BstNI P198A (all in ... Only one individual was heterozygous for the MSTN BanII K153R variant. ...
    www.ncbi.nlm.nih.gov/pubmed/15083369
  • OMIM: 601788
    MSTN is transcribed as a 3.1-kb mRNA species that encodes a 335-amino acid precursor protein. ... A55T in exon 1 and K153R in exon 2 were polymorphic in the general population, ...
    www.genome.jp/dbget-bin/www_bget?omim+601788
  • OMIM - GROWTH/DIFFERENTIATION FACTOR 8; GDF8
    MSTN is transcribed as a 3.1-kb mRNA species that encodes a 335-amino acid precursor protein. ... A55T in exon 1 and K153R in exon 2 were polymorphic in the general population, ...
    snhs-plin.barry.edu/Research/OMIM - GROWTH-DIFFERENTIATIO...
  • MSTN - myostatin
    Moreover, MSTN could substitute for dexamethasone in the adipogenesis mixture. ... Does the K153R variant of the myostatin gene influence the clinical presentation of women ...
    www.ihop-net.org/UniPub/iHOP/gismo/88591.html
  • Twins :: physiology
    The MSTN AluI A55T (exon 1), BanII K153R, TaqI E164 K and BstNI P198A (all in ... Only one individual was heterozygous for the MSTN BanII K153R variant. ...
    lib.bioinfo.pl/meid:76378
  • Abstracts
    investigate the restoration mechanism by the MSTN blockade, we analyzed ... double mutant and MSTN mutant, and MSTN mutant and CAV-3 mutant. We obtained 91 up ...
    puffer.genpat.uu.se/publications/articles/A16.pdf
  • Papers/Abstracts on Muscle Growth - Brothers of Iron
    MSTN is transcribed as a 3.1-kb mRNA species that encodes a 335-amino acid precursor ... A55T in exon 1 and K153R in exon 2 were polymorphic in the general ...
    www.brothersofiron.com/showthread.php?t=1129

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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