GenBank-Updates@genbank.bio.net (09/22/90)
LOCUS HUMPFKTA1 249 bp ds-DNA PRI 22-SEP-1990
DEFINITION Human phosphofructokinase gene with Tarui mutation exon 13.
ACCESSION M35042
KEYWORDS phosphofructokinase.
SEGMENT 1 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 249)
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 / 76 + 150 phosphofructokinase, exon 13 (AA at 76)
mut 151 151 g in normal; t in Tarui patient
BASE COUNT 47 a 59 c 80 g 63 t
ORIGIN
1 agtggttcgc acacagtggc tgtgatgaac gtgggggctc cggctgcagg catgaatgct
61 gctgttcgct ccactgtgag gattggcctt atccagggca accgagtgct cgttgtccat
121 gatggtttcg agggcctggc caaggggcag gtatggggac tatctgggac ctaggagcag
181 tcatggggaa gataagtgta gcaagaatga cctgtccatt ctcttggctt cctctgttcc
241 tcactacct
//