LOCUS       S73196                   899 bp    mRNA    linear   HUM 28-FEB-1995
DEFINITION  AQP2=water-channel aquaporin 2 [human, autosomal nephrogenic
            diabetes insipidus patient, mRNA Mutant, 899 nt].
ACCESSION   S73196
VERSION     S73196.1
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 899)
  AUTHORS   van Lieburg,A.F., Verdijk,M.A., Knoers,V.V., van Essen,A.J.,
            Proesmans,W., Mallmann,R., Monnens,L.A., van Oost,B.A., van Os,C.H.
            and Deen,P.M.
  TITLE     Patients with autosomal nephrogenic diabetes insipidus homozygous
            for mutations in the aquaporin 2 water-channel gene
  JOURNAL   Am. J. Hum. Genet. 55 (4), 648-652 (1994)
   PUBMED   7524315
  REMARK    GenBank staff at the National Library of Medicine created this
            entry [NCBI gibbsq 155285] from the original journal article.
COMMENT     C559 to T transition.
FEATURES             Location/Qualifiers
     source          1..899
                     /db_xref="H-InvDB:HIT000216468"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
     gene            1..899
                     /gene="AQP2"
                     /note="water-channel aquaporin 2, AQP2"
     CDS             71..886
                     /gene="AQP2"
                     /note="Arg187 to Cys substitution"
                     /codon_start=1
                     /product="water-channel aquaporin 2"
                     /protein_id="AAB31999.1"
                     /translation="MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQI
                     AMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAA
                     LLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTP
                     ALSIGFSVALGHLLGIHYTGCSMNPACSLAPAVVTGKFDDHWVFWIGPLVGAILGSLL
                     YNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA"
BASE COUNT          131 a          308 c          278 g          182 t
ORIGIN      
        1 agtgcgagag cgagtgcccg gagcatcctg gccctgagac agctgggcca gccccgcagg
       61 gctctgcagc atgtgggagc tccgctccat agccttctcc agggctgtgt tcgcagagtt
      121 cctggccaca ctcctcttcg tcttctttgg cctcggctct gccctcaact ggccacaggc
      181 cctgccctct gtgctacaga ttgccatggc gtttggcttg ggtattggca ccctggtaca
      241 ggctctgggc cacataagcg gggcccacat caaccctgcc gtgactgtgg cctgcctggt
      301 gggctgccac gtctccgttc tccgagccgc cttctacgtg gctgcccagc tgctgggggc
      361 tgtggccgga gccgctctgc tccatgagat cacgccagca gacatccgcg gggacctggc
      421 tgtcaatgct ctcagcaaca gcacgacggc tggccaggcg gtgactgtgg agctcttcct
      481 gacactgcag ctggtgctct gcatcttcgc ctccaccgat gagcgccgcg gagagaaccc
      541 gggcacccct gctctctcca taggcttctc cgtggccctg ggccacctcc ttgggatcca
      601 ttacaccggc tgctctatga atcctgcctg ctccctggct ccagctgtcg tcactggcaa
      661 atttgatgac cactgggtct tctggatcgg acccctggtg ggcgccatcc tgggctccct
      721 cctctacaac tacgtgctgt ttccgccagc caagagcctg tcggagcgcc tggcagtgct
      781 gaagggcctg gagccggaca ccgattggga ggagcgcgag gtgcgacggc ggcagtcggt
      841 ggagctgcac tcgccgcaga gcctgccacg gggtaccaag gcctgagggc cgccagcgg
//