LEPR K109R - GET-Evidence

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

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Curation:
Currentness:

LEPR K109R

(LEPR Lys109Arg)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • G @ chr1:66036441: 23.1% (2489/10758) in EVS
  • G @ chr1:65809028: 25.0% (32/128) in GET-Evidence
  • Frequency shown in summary reports: 23.1% (2489/10758)

Publications
 

Angel-Chávez LI, Tene-Pérez CE, Castro E. Leptin receptor gene K656N polymorphism is associated with low body fat levels and elevated high-density cholesterol levels in Mexican children and adolescents. Endocr Res. 2012;37(3):124-34. doi: 10.3109/07435800.2011.648360. PubMed PMID: 22746211.

 

Su PH, Yang SF, Yu JS, Chen SJ, Chen JY. A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients. Eur J Med Genet. 2012 Sep 23. doi:pii: S1769-7212(12)00254-6. 10.1016/j.ejmg.2012.09.003. [Epub ahead of print] PubMed PMID: 23009903.

 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr1:66036441

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr1:66036441

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr1:66036441

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr1:66036441

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr1:66036441

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr1:66036441

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr1:66036441

 

 

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr1:65809029

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr1:65809029

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr1:65809029

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr1:65809029

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr1:65809029

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr1:65809029

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr1:65809029

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr1:65809029

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr1:65809029

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr1:65809029

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr1:65809029

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr1:65809029

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr1:65809029

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr1:65809029

 

NA12878

 

Other external references
 

    dbSNP
  • rs1137100
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.026 (benign)
    Web search results (139 hits -- see all)
  • Common SNPs in LEP and LEPR associated with birth weight and ...
    Common SNPs in LEP and LEPR associated with birth weight and type 2 diabetes-related ... RESULTS: The LEPR K109R SNP was associated with birth weight (KK, KR ...
    www.ncbi.nlm.nih.gov/pubmed/18490929
  • Prevalence of the Leptin and Leptin Receptor Gene Variants ...
    There was no significant difference in the genotype and allele frequencies of LEP A19G and LEPR K109R, Q223R variants between obese and non-obese subjects. ...
    ansijournals.com/abstract.php?doi=aje.2009.49.58
  • Brief Genetics Report
    the LEPR gene, a lysine-to-alanine substitution at codon 109 in exon ... to the LEP A19G polymorphism and the LEPR K109R polymorphism in whites after ...
    diabetes.diabetesjournals.org/content/53/6/1603.full.pdf
  • International Journal of Obesity - Abstract of article ...
    Common SNPs in LEP and LEPR associated with birth weight and type 2 diabetes ... The LEPR K109R SNP was associated with birth weight (KK, KR and RR ...
    www.nature.com/ijo/journal/v32/n8/abs/ijo200868a.html
  • Diabetes -- Lakka et al. 53 (6): 1603 Figure 2
    2. Exercise-induced changes in fasting insulin according to the LEP A19G polymorphism and the LEPR K109R polymorphism in whites after adjustment ...
    diabetes.diabetesjournals.org/cgi/content-nw/full/53/6/...
  • Genetics of Leptin and Obesity: A HuGE Review -- Paracchini ...
    LEPR. LEPR maps in humans to the 1p31 chromosome and has at least five isoforms. ... The overall association between LEPR K109R and obesity was 1.05 (95 percent CI: ...
    aje.oxfordjournals.org/cgi/content/full/162/2/101
  • BioPortfolio - LEPR
    During weight loss, leptin levels decrease, whereas soluble LEPR levels and the ... The LEPR K109R SNP was associated with birth weight (KK, ... Also the LEPR Q223R SNP ...
    www.bioportfolio.com/search/LEPR.html
  • Save Up to 85% on Other Medications, Raypharma Online Pharmacy
    Buy Other Medications Online & Save up to 85%, RayPharma Online Pharmacy. Order Other ... the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body ...
    www.cheap-pharmacy.biz/?category=other
  • DAVID: Database for Annotation, Visualization, and Integrated ...
    CD295 antigen, HuB219, LEP-R, LEPR protein, Leptin receptor, Leptin receptor precursor, OB receptor, OB-R, ... Interaction between the LEP A19G and LEPR K109R polymorphisms ...
    david.abcc.ncifcrf.gov/geneReportFull.jsp?rowids=,3029353
  • Obesity - Functional Consequences of the Human Leptin ...
    Formerly known as Obesity Research, Obesity is the official journal of The Obesity ... Three missense variants Q223R, K109R, K656N in LEPR with allele frequencies >5% have been ...
    www.nature.com/oby/journal/v17/n1/full/oby2008489a.html

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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