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Curation:

Currentness:

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ITGB3 L59P

(ITGB3 Leu59Pro)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

C @ chr17:45360730: 13.5% (1452/10758) in EVS
C @ chr17:42715728: 8.7% (11/126) in GET-Evidence
Frequency shown in summary reports: 13.5% (1452/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs5918
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the ITGB3 gene
Thrombasthenia of Glanzmann and Naegeli
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGB3

PolyPhen-2

Score: 0.02 (benign)

Web search results (50 hits -- see all)

Non-Hodgkin Lymphoma - SNPedia
Variations of the following genes were implicated in risk for one or more types ... most significant (p<0.01) findings were for: rs5918, ITGB3 L59P (OR = 0.66, CI: 0.52-0.85) ...
www.snpedia.com/index.php?title=Non-Hodgkin_Lymphoma
Genetic variation in 1253 immune and inflammation genes and ...
Genetic variation in 1253 immune and inflammation genes and risk of non-Hodgkin lymphoma. ... coagulation pathways (FGG and ITGB3) may be important in the etiology ...
www.ncbi.nlm.nih.gov/pubmed/17827388
Blood -- Genetic variation in 1253 immune and inflammation ...
In nsSNP analyses, the strongest findings (p0.01) were for ITGB3 L59P (OR=0.66, 0.52-0.85), TLR6 V427A (OR=5.20, 1.77-15.3), SELPLG M264V (OR=3.20, ...
bloodjournal.hematologylibrary.org/cgi/content/short/...
Blood -- Genetic variation in 1253 immune and inflammation ...
In nsSNP analyses, the strongest findings (P .01) were for ITGB3 L59P (odds ratio [OR] = 0.66; 95% confidence interval [CI] 0.52-0.85), TLR6 V427A ...
bloodjournal.hematologylibrary.org/cgi/content/.../13/4455
Neoplasia: Genetic variation in 1253 immune and inflammation ...
In nsSNP analyses, the strongest findings (P .01) were for ITGB3 L59P (odds ratio [OR] = 0.66; 95% confidence interval [CI] 0.52-0.85), TLR6 V427A ...
www.ncbi.nlm.nih.gov/pmc/articles/PMC2234796
Rs5918 - SNPedia
The 'A2' allele of the platelet specific alloantigen system is encoded by rs5918 ... Lymphoma, both for the SNP (which is also known as L59P) and for its gene, ITGB3. ...
www.snpedia.com/index.php?title=Rs5918
Cunningham, JM (Julie M)
Cunningham, JM (Julie M) :: Caution on pedigree haplotype inference with software that assumes linkage equilibrium. Mutations in CHEK2 associated with prostate cancer ...
lib.bioinfo.pl/auid:36077
Prevalence in the United States of Selected Candidate Gene ...
Discussion: Learn how these nationally representative data on allele frequency and genotype prevalence may provide a valuable resource for future epidemiologic ...
www.medscape.com/viewarticle/586942_4

Other in silico analyses

NBLOSUM100 score = 7
GET-Evidence autoscore = 2

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D05 from PGP sample 1205491 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D01 from PGP sample 31286272 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_G02 from PGP sample 67180598 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Nov 29 2012 Genome Importing Robot added hu34D5B9 exome view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Jun 23 2011 Genome Importing Robot removed James D. Watson view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed Desmond Tutu view
Jun 15 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS19670-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06994-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18502-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 27 2010 Genome Importing Robot added Desmond Tutu view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added James D. Watson view
Dec 27 2009 Genome Importing Robot added variant view

ITGB3 L59P - GET-Evidence