KISS1R R331X - GET-Evidence

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

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Curation:
Currentness:

KISS1R R331X

(KISS1R Arg331Stop)


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 (11 hits -- see all)
  • The GPR54 gene as a regulator of puberty.
    The GPR54 gene as a regulator of puberty. Seminara SB, Messager S, Chatzidaki EE, ... the compound heterozygous mutations (R331X and X399R) had attenuated ...
    www.ncbi.nlm.nih.gov/pubmed/14573733
  • NEJM -- The GPR54 Gene as a Regulator of Puberty
    Original Article from The New England Journal of Medicine -- The GPR54 Gene as a Regulator of Puberty ... Kisspeptin and KISS1R: a critical pathway in the reproductive system. ...
    content.nejm.org/cgi/content/abstract/349/17/1614?...
  • Kisspeptins: a multifunctional peptide system with a role in ...
    2007 August; 151(8): 1143–1153. Published online 2007 May 21. doi: 10. ... this review the receptor gene name will be given as KISS1 receptor gene (KISS1R) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2189831/?tool=pubmed
  • Two Novel Missense Mutations in G Protein-Coupled Receptor 54 ...
    Alert me when this article is cited. Alert me when eLetters are posted ... and compound heterozygosity for two mutations, R331X and X399R, in an unrelated Afro ...
    jcem.endojournals.org/cgi/content/full/90/3/1849
  • Role of sequence variations of the GnRH receptor and G ...
    Copyright © 2005 by European Society of Endocrinology. This Article ... of the Kisspeptin-1 Receptor (kiss1r) Generated by Alternative Splicing in a Modern ...
    www.eje-online.org/cgi/content/full/153/6/845
  • FHA - The GPR54 gene as a regulator of puberty - Article Summary
    BACKGROUND: Puberty, a complex biologic process involving sexual development, accelerated linear growth, and adrenal maturation, is initiated when gonadotropin ...
    find-health-articles.com/rec_pub_14573733-the-gpr54-gene-...
  • The GPR54 gene as a regulator of puberty.
    BACKGROUND: Puberty, a complex biologic process involving sexual development, accelerated linear growth, and adrenal maturation, is initiated when gonadotropin ...
    www.medscape.com/medline/abstract/14573733
  • Neuroendocrine, gonadal, placental, and obstetric phenotypes ...
    The G protein coupled receptor, GPR54, is a key regulator of puberty and reproductive function. ... patient harboring the mutations R331X and X399R demonstrated (1) ...
    www.medscape.com/medline/abstract/16757106
  • OMIM: 604161
    0002 HYPOGONADOTROPIC HYPOGONADISM KISS1R, ARG331TER Seminara et al. (2003) studied 63 unrelated patients ... of an arginine at residue 331 with a premature stop codon (R331X) ...
    www.genome.jp/dbget-bin/www_bget?omim+604161
  • Kaiser, UB (Ursula B)
    Subsequently, mutations in KISS1R, TAC3 and TACR3 were identified as causes incidence of ... carrying the compound heterozygous mutations (R331X and X399R) had attenuated GPR54, ...
    lib.bioinfo.pl/auid:119671

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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