GenBank-Updates@genbank.bio.net (09/22/90)
LOCUS HUMPFKTA2 130 bp ds-DNA PRI 22-SEP-1990
DEFINITION Human phosphofructokinase gene with Tarui mutation exon 14.
ACCESSION M36003
KEYWORDS phosphofructokinase.
SEGMENT 2 of 2
SOURCE Human male muscle DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 130)
AUTHORS Nakajima,H., Kono,N., Yamasaki,T., Hotta,K., Kawachi,M.,
Kuwajima,M., Noguchi,T., Tanaka,T. and Tarui,S.
TITLE Genetic defect in muscle phosphofructokinase deficiency: Abnormal
splicing of the muscle phosphofructokinase gene due to a point
mutation at the 5'-splice site
JOURNAL J. Biol. Chem. 265, 9392-9395 (1990)
STANDARD simple staff_entry
COMMENT
FEATURES from to/span description
pept + 60 > 130 phosphofructokinase, exon 14
BASE COUNT 28 a 32 c 40 g 30 t
ORIGIN
1 cccacacagg cctcctagtg ctttagcctt gtgcagagct ctgtggctta tccccacaga
61 tagaggaagc tggctggagc tatgttgggg gctggactgg ccaaggtggc tctaaacttg
121 ggactaaaag
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