M14016


chrm_1



Table 2. UROD mutations and enzyme activity in 10 PCT patients.


Patient Mutation Exon Codon change URO-D (% of N)


1 425G>A 5 R142Q 77


3 482T>A 6 L161Q 76


4 616C>T 6 Q206X 56


5 656C>T 7 S219F 55


8 IVS8-1G>C IVS8 exon 9 del/stop+6 67


9 1107G>A 10 3’UTR 76


http://www.genome.ucsc.edu/cgi-bin/hgc?hgsid=22835108&o=44907750&t=44911076&g=mrna&i=M14016&c=chr1&l=44907750&r=44911076&db=hg15&pix=610




http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=Nucleotide&term=M14016&doptcmdl=GenBank&tool=genome.ucsc.edu




Information on mRNA M14016


Description: Human uroporphyrinogen decarboxylase mRNA, complete cds.


Gene: UROD


Product: n/a


Author: Romeo,P.H., Raich,N., Dubart,A., Beaupain,D., Pryor,M., Kushner,J., Cohen-Solal,M. and Goossens,M.


Organism: Homo sapiens


Tissue: n/a


Development stage: n/a




HUMAN MUTATION Mutation in Brief #406 (2001) Online


MUTATION IN BRIEF


Seven Novel Point Mutations in the Uroporphyrinogen


Decarboxylase (UROD) Gene in Patients With Familial


Porphyria Cutanea Tarda (f-PCT)


M.D. Cappellini1, F. Martinez di Montemuros 1, D. Tavazzi1, S. Fargion1, A. Pizzuti2, A. Comino1, T.


Cainelli3, and G. Fiorelli1


1Centro Anemie Congenite, Ospedale Maggiore Policlinico IRCCS, Dipartimento di Medicina Interna, University of


Milan, Italy


2Istituto di Clinica Neurologica, Ospedale Maggiore Policlinico IRCCS, University of Milan, Italy


3Clinica Dermatologica V, Ospedali Riuniti di Bergamo, University of Milan, Italy





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