GenBank-Updates@genbank.bio.net (03/19/91)
LOCUS HUMMCAD 88 bp ds-DNA PRI 19-MAR-1991
DEFINITION Human acyl-CoA dehydrogenase gene, partial cds.
ACCESSION M60505
KEYWORDS acyl-CoA dehydrogenase.
SOURCE Human DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 88)
AUTHORS Matsubara,Y., Narisawa,K., Miyabayashi,S., Tada,K., Coates,P.M.,
Bachmann,C., Elsas,L.J.II., Pollitt,R.J., Rhead,W.J. and Roe,C.R.
TITLE Identification of a common mutation in patients with medium-chain
acyl-CoA dehydrogenase deficiency
JOURNAL Biochem. Biophys. Res. Commun. 171, 498-505 (1990)
STANDARD simple staff_entry
FEATURES Location/Qualifiers
CDS <1..>88
/note="medium chain"
/product="acyl-CoA dehydrogenase"
/codon_start=1
mutation <1..>88
/phenotype="Lys 329 to Glu; medium chain acyl-CoA
dehydrogenase deficiency"
/note="replace(45,`g')"
/note="medium chain"
/product="acyl-CoA dehydrogenase"
BASE COUNT 30 a 14 c 24 g 20 t
ORIGIN Chromosome 1.
1 gtagagcacc aagcaatatc atttatgctg gctgaaatgg caatgaaagt tgaactagct
61 agaatgagtt accagagagc agcttggg
//