LOCUS       X73071                    69 bp    mRNA    linear   HUM 18-JUN-1993
DEFINITION  H.sapiens aspartylglucosaminuria (AGU) mutation.
ACCESSION   X73071
VERSION     X73071.1
KEYWORDS    aspartylglycosaminuria.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 69)
  AUTHORS   Park H., Vettese M.B., Fensom A.H., Fisher K.J., Aronson N.N.Jr.
  TITLE     Characterization of three alleles causing aspartylglycosaminuria:
            two from a British family and one from an American patient.
  JOURNAL   Biochem. J. 290, 735-741(1993).
   PUBMED   8457202
FEATURES             Location/Qualifiers
     source          1..69
                     /db_xref="H-InvDB:HIT000323361"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     CDS             <1..69
                     /codon_start=1
                     /gene="AGU"
                     /product="aspartylglycosaminuria"
                     /db_xref="H-InvDB:HIT000323361.14"
                     /db_xref="UniProtKB/TrEMBL:Q13726"
                     /protein_id="CAA51529.1"
                     /translation="EHTHTFSRRVSHHICSKYGVYQ"
     variation       9^10
                     /note="5 bp deletion causing premature termination"
BASE COUNT           23 a           14 c           14 g           18 t
ORIGIN      
        1 gaacatacac acacttttag taggagagtc agccaccaca tttgctcaaa gtatggggtt
       61 tatcaatga
//