ZMPSTE24 Q41X - GET-Evidence

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

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Curation:
Currentness:

ZMPSTE24 Q41X

(ZMPSTE24 Gln41Stop)


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 (10 hits -- see all)
  • Severe mandibuloacral dysplasia caused by novel compound ...
    The mutant Q41X was inactive in a yeast halo assay; however, the mutant P248L ... We conclude that ZMPSTE24 deficiency results in accumulation of farnesylated ...
    tripdatabase.com/doc/706898-Severe-mandibuloacral-dysplas...
  • インスリン・IGF-1 シグナルと個体寿命
    ZMPSTE24. 遺伝子:姉妹に複合へテロ変異を認める:exon 1 (121 C > T: Gln ->Stop: Q41X)、exon ... 打ち蛋白ラミナの主要構成成分で、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. 遺伝子異常症はラミン A 合成 ...
    endo80.umin.jp/symposium/S-6.pdf
  • Ozono, K (K)
    Ozono, K (K) :: A 55-kilodalton accessory factor facilitates vitamin D receptor DNA ... (c.121C>T; p.Q41X) and exon 6 (c.743C>T; p.P248L) in ZMPSTE24 in two Japanese sisters, 7 ...
    lib.bioinfo.pl/auid:2112526
  • Auchus, RJ (R J)
    Auchus, RJ (R J) :: Hormone-nuclear receptor interactions in health and disease. The ... (c.121C>T; p.Q41X) and exon 6 (c.743C>T; p.P248L) in ZMPSTE24 in two Japanese sisters, 7 ...
    lib.bioinfo.pl/auid:2104535
  • OMIM: 606480
    ZMPSTE24 contains a characteristic HEXXH zinc metalloprotease motif, several ... ZMPSTE24 gene: a 121C-T transition in exon 1, resulting in a gln41-to-ter (Q41X) ...
    www.genome.jp/dbget-bin/www_bget?omim+606480
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal ... Q41X was inactive in a yeast halo assay; however, the mutant P248L retained near normal ZMPSTE24 activity. ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Ozono

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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