GenBank-Updates@genbank.bio.net (02/01/91)
LOCUS HUMPBG 114 bp ss-mRNA PRI 01-FEB-1991
DEFINITION Human porphobilinogen deaminase (PBG) mRNA, exon 10.
ACCESSION M60888
KEYWORDS porphobilinogen deaminase.
SOURCE Human, cDNA to mRNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 114)
AUTHORS Delfau,M.H., Picat,C., de Rooik,F.W.M., Hamer,K., Bogard,M.,
Wilson,J.H.P., Deybach,J.C., Nordmann,Y. and Grandchamp,B.
TITLE Two different point G to A mutations in exon 10 of the
porphobilinogen deaminase gene are responsible for acute
intermittent porphyria
JOURNAL J. Clin. Invest. 86, 1511-1516 (1990)
STANDARD simple staff_entry
FEATURES Location/Qualifiers
exon 1..114
/number=10
/EC_number="4.3.1.8"
/gene="PBG"
/codon_start=1
/product="porphobilinogen"
mutation 2..2
/note="replace(2,`a') responsible for acute intermittent
porphyria"
/gene="PBG"
mutation 20..20
/note="replace(2,`a') responsible for acute intermittent
porphyria"
/gene="PBG"
BASE COUNT 25 a 33 c 41 g 15 t
ORIGIN
1 cggggaaacc tgaacacccg gcttcggaag ctggacgagc agcaggagtt cagtgccatc
61 atcctggcaa cagctggcct gcagcgcatg ggctggcaca accgggtggg gcag
//