PLN L39X - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

PLN L39X

(PLN Leu39Stop)


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 (4 hits -- see all)
  • Phospholamban R14 Deletion Results in Late-Onset, Mild ...
    We identified 1 family with a deletion of arginine 14 in the PLN. ... In the homozygous state, the L39X mutation was associated with early-onset, lethal, DCM. ...
    content.onlinejacc.org/cgi/content/full/48/7/1396
  • OMIM: 172405
    In 2 unrelated families with CMD1P (609909), Haghighi et al. (2003) identified a truncating mutation in the PLN gene, leu39 to ter (L39X; 172405.0002) ...
    www.genome.jp/dbget-bin/www_bget?omim+172405
  • <!DOCTYPE xhtml PUBLIC "-/W3C/DTD XHTML 1.0 Transitional/EN ...
    <!DOCTYPE xhtml PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3. ... cecs.pdx.edu&gt; Organization: Portland State University User-Agent: Thunderbird ...
    web.cecs.pdx.edu/~jrb/jrb.papers/p2p3/x
  • Diversen - Muntsystemen.pd
    ... 35 4 R /Resources &lt;&lt; /Font &lt;&lt; /F1 3 5 R /F4 32 4 R &gt;&gt; /XObject ... 3 5 obj &lt;&lt; /Type /Font /Subtype /Type1 /BaseFont /Helvetica /FirstChar 0 ...
    xs4all.nl/~mepri/producten/.../Diversen - Muntsystemen.pd

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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