[ensembl-dev] release 70 - Question about Ensembl Data regarding human gene PIK3CG and transcript PIK3CG-001 - References requested
m.diamantidis at erasmusmc.nl
Thu Feb 21 14:00:19 GMT 2013
Dear Ensemble Database,
My name is Dr. Michael D. Diamantidis, MSc, PhD. I am a haematologist and working at Erasmus MC, at the haematology department conducting a post doc.
The release number of the Ensembl version i used and i am posing the question is release 70.
My question involves Ensembl data.
I am investigating PIK3CG mutations.
I would like to ask you to provide me with the possible references regarding the human transcript PIK3CG-001 in two positions.
The first position i am interested is in exon 2, amino acid 514, which is ATG (Methionine), which has a capital R on top of A, meaning that A or G could occur in the same position. If G occurs, then the aminoacid in this position is GTG (Valine). I would like to ask if this is a known somatic mutation or a polymorphism (SNIP), what is the relative reference and in which organ this possible mutation occured (tissue sample) - if known. (Was it large intestine, lung, breast, etc?)
The second position is in exon 7, amino acid 849, which can be either arginine (CGA) or glutamine (CAA), since there is also an R on top of the base G. I would also like to ask if this is a known somatic mutation or a polymorphism (SNIP), what is the relative reference and in which organ this possible mutation occured (tissue sample) - if known. (Was it large intestine, lung, breast, etc?)
I can see that there are also 69 known reported mutations for PIK3CG gene harboring several organs. Could you provide me with the relative references, if possible? Is this material published or informal and unpublished, but just reported to your site?
Thank you in advance for your time. I am kindly waiting for your help and answer. I am indebted.
Dr. Michael D. Diamantidis, MSc, PhD
Erasmus MC - Haematology Dept. - Faculty of Medicine
Dr. Molewaterplein 50
3015 GE, Rotterdam
tel: +31 (0) 10 70 38 852
fax: +31 (0) 10 70 44 745
emails: m.diamantidis at erasmusmc.nl<mailto:m.diamantidis at erasmusmc.nl>
diamantidis76 at gmail.com<mailto:diamantidis76 at gmail.com>
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