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 //