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 //