LOCUS       S62085                   169 bp    mRNA    linear   HUM 26-JUL-2016
DEFINITION  OCRL-1 [human, patient 2, mRNA Partial Mutant, 169 nt].
ACCESSION   S62085
VERSION     S62085.1
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 169)
  AUTHORS   Leahey,A.M., Charnas,L.R. and Nussbaum,R.L.
  TITLE     Nonsense mutations in the OCRL-1 gene in patients with the
            oculocerebrorenal syndrome of Lowe
  JOURNAL   Hum. Mol. Genet. 2 (4), 461-463 (1993)
   PUBMED   8504307
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 133128] from the original journal article.
COMMENT     Nonsense mutation at base 2746.
FEATURES             Location/Qualifiers
     source          1..169
                     /db_xref="H-InvDB:HIT000215984"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..169
                     /gene="OCRL-1"
     CDS             1..93
                     /gene="OCRL-1"
                     /codon_start=1
                     /protein_id="AAB26926.1"
                     /translation="SAYDPRICRQVISQLPRCHRNVFRYLMAFL"
BASE COUNT           40 a           46 c           29 g           54 t
ORIGIN      
        1 tctgcttatg atccccggat ctgccgacag gtgatctccc agcttccgag atgccataga
       61 aatgttttcc gttacttgat ggcattcctt tgagaactct taaaattctc tgaatacaat
      121 agcgtcaatg ccaacatgat cgctactctc ttcactagtc ttctcctga
//