PLOD1 A99T - GET-Evidence

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

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Curation:
Currentness:

PLOD1 A99T

(PLOD1 Ala99Thr)


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

  • A @ chr1:12009956: 28.2% (3038/10758) in EVS
  • CA @ chr1:11932541: 25.0% (32/128) in GET-Evidence
  • Frequency shown in summary reports: 28.2% (3038/10758)

Publications
 

Tasker PN, Macdonald H, Fraser WD, Reid DM, Ralston SH, Albagha OM. Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK. Osteoporos Int. 2006;17(7):1078-85. Epub 2006 May 4. PubMed PMID: 16758144.

 

Genomes
 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr1:12009956

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr1:12009956

 

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr1:11932543

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr1:11932543

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr1:11932543

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr1:11932543

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr1:11932543

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:11932543

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr1:11932543

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr1:11932543

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr1:11932543

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr1:11932543

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr1:11932543

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr1:11932543

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr1:11932543

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr1:11932543

 

GS19703 - var-GS19703-1100-36-ASM
hom A @ chr1:11932543

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr1:11932543

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr1:11932543

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr1:11932543

 

Other external references
 

    dbSNP
  • rs7551175
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (4 hits -- see all)
  • AceView: Gene:PLOD1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&...
  • Association of PLOD1 polymorphisms with bone mineral density ...
    The PLOD1 gene is situated within a quantitative trait locus for regulation of ... of PLOD1, which results in an alanine-threonine amino acid change at codon 99 (A99T) ...
    www.medscape.com/medline/abstract/16758144?prt=true
  • Macrocytosis and sulphasalazine treatment of rheumatoid arthritis.
    The PLOD1 gene is situated within a quantitative trait locus for regulation of ... that heterozygosity for the A99T variant of PLOD1 is associated with reduced LS ...
    lib.bioinfo.pl/pmid:2891393
  • AuthorMapper
    AuthorMapper searches journal articles and plots the location of the authors on a map. ... of PLOD1, which results in an alanine-threonine amino acid change at codon 99 (A99T) ...
    authormapper.com/search.aspx?...&val=name:Reid, D. M.

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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