PLN R9C - GET-Evidence

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

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Curation:
Currentness:

PLN R9C

(PLN Arg9Cys)


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
 

    PolyPhen-2
  • Score: 0.636 (possibly damaging)
    Web search results (926 hits -- see all)
  • Platform V: Protein-Ligand Interactions
    tion of PLN by PKA is associated with an augmented rate of SR ... (PLN-R9C and PLN-R14-Delete) have been shown to be linked. with forms of the fatal hereditary disease, dilated ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • -- 106 (25): 3421 -- Circulation
    Phospholamban (PLN) inhibits the Ca2+-ATPase SERCA2 of the cardiac muscle ... Coexpression of PLN-wild type and PLN-R9C, mimicking the heterozygous condition, ...
    circ.ahajournals.org/cgi/content/full/106/25/3421
  • Dilated cardiomyopathy and heart failure caused by a mutation ...
    Transgenic PLN(R9C) mice recapitulated human heart failure with premature death. ... Rather, PLN(R9C) trapped protein kinase A (PKA), which blocked PKA-mediated ...
    www.ncbi.nlm.nih.gov/pubmed/12610310
  • Lehrstuhl für Pharmakologie: alle Publikationen
    METHODS AND RESULTS: Because PLN(R9C) inhibits SERCA2a mainly by preventing deactivation of wild-type PLN, SERCA2a activity could be increased ...
    pharmakologie.uni-wuerzburg.de/startseite/publikationen/...
  • Genetics of dilated cardiomyopathy
    The interaction between PLN and sarcoplasmic reticulum Ca2+ ATPase protein ... In contrast, the PLN-R9C mutation involves direct disruption of Ca2+ ...
    www.theheart.org/article/160821.do
  • Comparative Proteomics Profiling of a Phospholamban Mutant ...
    PLN-R9C human cardiac explant, the frozen ventricular tissue biopsy ... first recorded deaths in the PLN-R9C line were observed. between 12 and 16 weeks of age, ...
    www.mcponline.org/cgi/reprint/7/3/519.pdf
  • BiomedExperts: Alterations of phospholamban function can ...
    METHODS AND RESULTS: Because PLN(R9C) inhibits SERCA2a mainly by preventing deactivation of wild-type PLN, SERCA2a activity could be increased ...
    biomedexperts.com/Abstract.bme/19139388/...
  • Medline ® Abstract for Reference of 'Genetics of dilated ...
    Transgenic PLN(R9C) mice recapitulated human heart failure with premature death. ... Rather, PLN(R9C) trapped protein kinase A (PKA), which blocked PKA-mediated ...
    uptodate.com/patients/content/abstract.do?...&refNum=43
  • Comparative Proteomics Profiling of a Phospholamban Mutant ...
    The PLN-R9C mice had a median survival of only 20 weeks with fewer than 15 ... The first recorded deaths in the PLN-R9C line were observed between 12 and 16 ...
    www.mcponline.org/cgi/content/full/7/3/519
  • Phospholamban R14 Deletion Results in Late-Onset, Mild ...
    A point mutation in PLN, R9C, was found in a single large family with an average ... The PLN R9C mutation sequesters PKA preventing phosphorylation of normal ...
    content.onlinejacc.org/cgi/content/full/48/7/1396

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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