GenBank-Updates@genbank.bio.net (02/06/91)
LOCUS HUMDMDMUT 180 bp ds-DNA PRI 06-FEB-1991
DEFINITION Human Duchenne muscular dystrophy protein gene with a frame
shifting deletion mutation.
ACCESSION M55699
KEYWORDS Duchenne muscular dystrophy protein.
SOURCE Human (16 year old patient A.N.) blood DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 180)
AUTHORS Matsuo,M., Masumura,T., Nakajima,T., Kitoh,Y., Takumi,T., Koga,J.
and Nakamura,H.
TITLE A very small frame-shifting deletion within exon 19 of the Duchenne
muscular dystrophy gene
JOURNAL Biochem. Biophys. Res. Commun. 170, 963-967 (1990)
STANDARD simple staff_entry
FEATURES Location/Qualifiers
intron 1..34
/gene="DMD"
/partial
exon 35..70
/note="Frame shift mutation is at the 3' exon/intron
boundary"
/gene="DMD"
/codon_start=35
/product="Duchenne muscular dystrophy protein"
mutation 68..69
/note="Site of small frame shifting deletion"
/gene="DMD"
intron 71..180
/note="Premature intron due to a small frame-shifting
deletion."
/gene="DMD"
/partial
BASE COUNT 63 a 27 c 32 g 58 t
ORIGIN Chromosome X.
1 tattgaatta ctcatctttg ctctcatgct gcaggccata gagcgagaaa aagctgagaa
61 gttcagaatg gtaattacac gagttgattt agataatctt cttagggatt tgataaacac
121 ataggttcat atttatcagc tgaattatat cagacaagca cttgttaaat acaaatttaa
//