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From: GenBank-Updates@genbank.bio.net
Newsgroups: bionet.molbio.genbank.updates
Subject: Human mutant cerebrosidase sulfatide activator protein (SAP-MU)
Message-ID: <May.11.05.00.33.1991.27861@genbank.bio.net>
Date: 11 May 91 12:00:33 GMT
Sender: root@genbank.bio.net
Distribution: bionet
Lines: 46
Approved: lear@genbank.bio.net
Checksum: 06319     3

LOCUS       HUMSAPE1      704 bp ds-DNA             PRI       11-MAY-1991
DEFINITION  Human mutant cerebrosidase sulfatide activator protein (SAP-MU)
            gene, exon with mutation.
ACCESSION   M60259
KEYWORDS    cerebrosidase sulfatide activator protein.
SOURCE      Human 7-year old skin fibroblast DNA.
  ORGANISM  Homo sapiens
            Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
            Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE   1  (bases 1 to 704)
  AUTHORS   Holtschmidt,H., Sandhoff,K., Kwon,H.Y., Harzer,K., Nakano,T. and
            Suzuki,K.
  TITLE     Sulfatide activator protein: Alternative splicing that generates
            three mRNAs and a newly found mutaton responsible for a clinical
            disease
  JOURNAL   J. Biol. Chem. 266, 7556-7560 (1991)
  STANDARD  full staff_entry
FEATURES             Location/Qualifiers
     intron          1..249
                     /gene="SAP-MU"
                     /partial
     exon            258..314
                     /note="exon with mutation"
                     /gene="SAP-MU"
     mutation        259..259
                     /note="c in mutant, g in wt (Cys->Ser) causing sulfatide
                     activator deficiency"
                     /gene="SAP-MU"
     intron          315..704
                     /gene="SAP-MU"
                     /partial
BASE COUNT      157 a    152 c    163 g    232 t
ORIGIN      Chromosome 10q21-22.
        1 gggtggaatc tttaaggtcc cttaagaaac ttttcaaaac gtcttttgca cacatttcct
       61 ataaatgata gagtaaccaa attgtcattt tcatcttatt aaagctggcc cagagcagac
      121 attcataaaa ttctacttta gaaacttgct tgatagtcac cagttgacac tgttggaaat
      181 gctggggggt ttttgttggt tgggttttgg tgcattgttg cagtgatttg tttagcaatc
      241 tgtttctctc tcctcagtgc aagaactata tcagccagta ttctgaaatt gctatccaga
      301 tgatgatgca catggtaggt ggcacggagg ccccttgtta gcatttttct ttgtttttca
      361 ggtttcgtca tttctaggaa ttttgaaaat tatatggttt agtttccctt ttttacctta
      421 gagtgctgaa ttgggctaaa tcgacccctc tggctaggag actctccact tgcaatctca
      481 gtacctcccc tgttacggga gaggcaggct gaagcatctt gatcccagga ctgccctggt
      541 ggcttcctgg caatttgttt gcctctgccc gttcaggcca gccatcaggt ttctaggtct
      601 ggctttaacc ctgggatctg tagaagtcaa gtgctctcta actaagccag gcctgagaat
      661 ggctgtgttg ccacctgagt cgggggaata ctgcctcccg gagt
//