LHX4 R84C - GET-Evidence

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

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Curation:
Currentness:

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LHX4 R84C

(LHX4 Arg84Cys)


You are viewing an old version of this page that was saved on November 27, 2013 at 9:18pm by Madeleine Ball.

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
 

Added in this revision:

Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF, Rhodes SJ. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. J Clin Endocrinol Metab. 2008 Mar;93(3):1062-71. Epub 2007 Dec 11. PubMed PMID: 18073311; PubMed Central PMCID: PMC2266965.

 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (10 hits -- see all)
  • Three Novel Missense Mutations within the LHX4 Gene Are ...
    Context: The LHX4 LIM-homeodomain transcription factor has essential ... Wild-type LHX4 activates the GSU reporter (23- fold), whereas R84C has reduced ...
    jcem.endojournals.org/cgi/content/full/93/3/1062
  • Three Novel Missense Mutations within the LHX4 Gene Are ...
    Affinity resins containing either recombinant wild-type or R84C LHX4 proteins (as GST fusions) were incubated with radiolabeled PIT1 proteins. ...
    jcem.endojournals.org/cgi/content/full/93/3/1062/F5
  • OMIM: 602146
    Lhx3 and Lhx4 have redundant control over formation of the definitive ... to-cys substitution at codon 84, between the LIM domains of the protein (R84C) ...
    www.genome.jp/dbget-bin/www_bget?omim+602146
  • Rarity of PIT1 involvement in children from Russia with ...
    BioInfoBank Library :: Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency. A case of severe pituitary dwarfism associated ...
    lib.bioinfo.pl/pmid:9632165

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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