LOCUS       HUMMGLY                   54 bp    mRNA    linear   HUM 27-APR-1993
DEFINITION  Human mutated glycoasparaginase gene, partial cds.
ACCESSION   M83247
VERSION     M83247.1
KEYWORDS    glycoasparaginase.
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 54)
  AUTHORS   Mononen,I., Heisterkamp,N., Kaartinen,V., Mononen,T., Williams,J.C.
            and Groffen,J.
  TITLE     Aspartylglycosaminuria in a non-Finnish patient caused by a donor
            splice mutation in the glycoasparaginase gene
  JOURNAL   J. Biol. Chem. 267 (5), 3196-3199 (1992)
   PUBMED   1737774
COMMENT     Original source text: Homo sapiens cDNA to mRNA.
FEATURES             Location/Qualifiers
     source          1..54
                     /db_xref="H-InvDB:HIT000196525"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /cell_line="GM03560"
                     /cell_type="fibroblast"
     CDS             1..45
                     /note="mutated glycoasparaginase gene, deletion at bp 29"
                     /codon_start=1
                     /protein_id="AAA36215.1"
                     /translation="GDILMRFLPRCCLQ"
     variation       29..30
                     /phenotype="deletion at this site causes
                     aspartylglycosaminuria"
BASE COUNT           13 a           12 c           12 g           17 t
ORIGIN      
        1 ggtgatatat tgatgcgctt cctgccaagg tgctgcttgc aataaacttt caac
//