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 //