[Genome] novel polymorphisms

[Dan Greenspan]

I recently submitted a paper which included a table with 23 single  
nucleotide polymorphisms that we had found by sequencing the coding  
sequences and splice junctions of the COL5A3 gene in 13 patients with  
hypermobility Ehlers-Danlos syndrome. We gave the base pair changes,  
patient allele frequencies and patient genotype frequencies  
(individuals homozygous for either allele or heterozygous), and  
showed where amino acid changes and restriction site polymorphisms  
took place. The editor suggested that none of this should be included  
in the paper, as much if not all of these data should be readily  
ascertainable via the UCSC genome browser. I have tried determining  
which of these polymorphisms are ascertainable via your site, and  
whether any might be novel - or whether any of the data we might  
present on these polymorphisms might be useful to readers beyond what  
they can readily get from the data bases. I have not been able to  
figure out how to use your browser to find polymorphisms in the  
coding sequences and splice junctions of this gene. Can someone there  
help? I would hate to take anything out of the paper that might be  
useful to workers in the field.
Thank you,
dan greenspan


Daniel S. Greenspan, Ph.D.
Professor
Department of Pathology and Laboratory Medicine
Department of Pharmacology
University of Wisconsin
5675 MSC
1300 University Avenue
Madison, WI  53706
Tel 608 262-4676
Fax 608 262-6691
dsgreens at wisc.edu