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 //