ZMPSTE24 P248L - GET-Evidence

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

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Curation:
Currentness:

ZMPSTE24 P248L

(ZMPSTE24 Pro248Leu)


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: 1.0 (probably damaging)
    Web search results (10 hits -- see all)
  • Severe mandibuloacral dysplasia caused by novel compound ...
    The missense mutation, P248L, was not found in 100 normal subjects of Japanese origin. ... however, the mutant P248L retained near normal ZMPSTE24 activity. ...
    tripdatabase.com/doc/706898-Severe-mandibuloacral-dysplas...
  • インスリン・IGF-1 シグナルと個体寿命
    Stop: Q41X)、exon 6 (743 C > T: Pro ->Leu:P248L)。母と弟は前者、父は後者の変異のヘテロ保因者。 ... 構成成分で、ZMPSTE24 蛋白はプレラミン A. からラミン A の合成に関わる重要な蛋白分解酵素である。 ZMPSTE24. 遺伝子異常 ...
    endo80.umin.jp/symposium/S-6.pdf
  • Ozono, K (K)
    The missense mutation, P248L, was not found in 100 normal subjects of Japanese origin. ... however, the mutant P248L retained near normal ZMPSTE24 activity. ...
    lib.bioinfo.pl/auid:2112526
  • Auchus, RJ (R J)
    The missense mutation, P248L, was not found in 100 normal subjects of Japanese origin. ... however, the mutant P248L retained near normal ZMPSTE24 activity. ...
    lib.bioinfo.pl/auid:2104535
  • OMIM: 606480
    ZMPSTE24 encodes a deduced 475-amino acid protein that shares 36 ... ZMPSTE24 contains a characteristic HEXXH zinc metalloprotease motif, several ...
    www.genome.jp/dbget-bin/www_bget?omim+606480
  • Search Medical and Societal References - esrnexus
    The missense mutation, P248L, was not found in 100 normal subjects of Japanese origin. ... however, the mutant P248L retained near normal ZMPSTE24 activity. ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Ozono

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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