LOCUS       S76893                   152 bp    mRNA    linear   HUM 26-JUL-2016
DEFINITION  GAA=lysosomal alpha-D-glucosidase {exon 14} [human, Pompe's disease
            patient, fibroblasts, mRNA Partial Mutant, 152 nt].
ACCESSION   S76893
VERSION     S76893.1
KEYWORDS    .
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 152)
  AUTHORS   Lin,C.Y. and Shieh,J.J.
  TITLE     Identification of a de novo point mutation resulting in infantile
            form of Pompe's disease
  JOURNAL   Biochem. Biophys. Res. Commun. 208 (2), 886-893 (1995)
   PUBMED   7695647
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 164143] from the original journal article.
            Erratum:[Biochem Biophys Res Commun. 1995 Aug 4;213(1):367. PMID:
            7639758]
FEATURES             Location/Qualifiers
     source          1..152
                     /db_xref="H-InvDB:HIT000216696"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..152
                     /gene="GAA"
                     /note="lysosomal alpha-D-glucosidase"
     CDS             3..152
                     /gene="GAA"
                     /codon_start=1
                     /product="lysosomal alpha-D-glucosidase"
                     /protein_id="AAB33842.1"
                     /translation="ILQFNLLGVPLVGAHVCGFLGNTSEELCVRWTQLGAFYPFMRNH
                     NSLLSL"
BASE COUNT           24 a           49 c           46 g           33 t
ORIGIN      
        1 aaatcctgca gtttaacctg ctgggggtgc ctctggtcgg ggcccacgtc tgcggcttcc
       61 tgggcaacac ctcagaggag ctgtgtgtgc gctggaccca gctgggggcc ttctacccct
      121 tcatgcggaa ccacaacagc ctgctcagtc tg
//