KISS1R L148S - GET-Evidence

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

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Curation:
Currentness:

KISS1R L148S

(KISS1R Leu148Ser)


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: 0.92 (probably damaging)
    Web search results (17 hits -- see all)
  • A role for kisspeptins in pregnancy: facts and speculations ...
    KISS1R was originally cloned from rat brain tissue as an orphan receptor with a ... amino acid 148 (L148S) within the third intracellular loop of KISS1R (Pallais et al. 2006) ...
    www.reproduction-online.org/cgi/content/full/138/1/1
  • Disease-causing mutation in GPR54 reveals the importance of ...
    A point mutation (L148S) in the second intracellular loop (IL2) of GPR54 causes ... mechanism by which the L148S mutation causes disease and address ...
    www.ncbi.nlm.nih.gov/pubmed/18772143
  • The GPR54 gene as a regulator of puberty.
    Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, ... index pedigree were homozygous for an L148S mutation in GPR54, and an unrelated ...
    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?...
  • Two Novel Missense Mutations in G Protein-Coupled Receptor 54 ...
    Alert me when this article is cited. Alert me when eLetters are posted ... mutations after L148S reported to result in impaired GPR54 function because the ...
    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
  • OMIM: 604161
    They found that L148S mutation did not affect the expression, ligand-binding properties, or protein ... 0003 HYPOGONADOTROPIC HYPOGONADISM KISS1R, TER399ARG See 604161.0002 and ...
    www.genome.jp/dbget-bin/www_bget?omim+604161
  • Kisspeptin Signaling in the Brain
    "Kiss1r" for its role as a kisspeptin receptor (Table 1), was ... nucleotide variant (L148S) in the. second intracellular loop of the KISS1R gene (7, 24, ...
    www.kisspeptin.org/attachments/oakley_endorev_09.pdf
  • 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-...
  • Neuroendocrine, gonadal, placental, and obstetric phenotypes ...
    The G protein coupled receptor, GPR54, is a key regulator of puberty and reproductive function. ... patient homozygous for the L148S mutation had (1) intact responses ...
    www.medscape.com/medline/abstract/16757106

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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