LOCUS HSCOSE 3522 bp DNA PRI 15-JAN-1992 DEFINITION H.sapiens mutant coseg gene for vasopressin-neurophysin precursor. ACCESSION X62891 NID g30135 KEYWORDS neurophysin; vasopressin. SOURCE human. ORGANISM Homo sapiens Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata; Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 3522) AUTHORS Schmale,H. TITLE Direct Submission JOURNAL Submitted (28-OCT-1991) H. Schmale, Universitaet Hamburg, Universitaetskrankenhaus Eppendorf, Inst. fuer Zellbiol. u. klin. Neurobiol., Martinistr. 52, 2000 Hamburg 20, FRG REFERENCE 2 (bases 1 to 3522) AUTHORS Bahnsen,U., Oosting,P., Swaab,D.F., Nahke,P., Richter,D. and Schmale,H. TITLE A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus JOURNAL EMBO J. 11 (1), 19-23 (1992) MEDLINE 92155158 COMMENT See also x62890. FEATURES Location/Qualifiers source 1..3522 /organism="Homo sapiens" /isolate="Diabetes insipidus patient IV-3" /db_xref="taxon:9606" /tissue_type="blood" /cell_type="leukocyte" /clone_lib="subgenomic plasmid library" /clone="IV-3-3" /chromosome="20" TATA_signal 1059..1065 gene 1139..3244 /gene="coseg" CDS join(1139..1258,2635..2836,3012..3184) /gene="coseg" /codon_start=1 /product="vasopressin-neurophysin precursor" /db_xref="PID:g30136" /db_xref="SWISS-PROT:P01185" /translation="MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPC GPGVKGRCFGPSICCADELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAAFG VCCNDESCVTEPECREGFHRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQ PDAY" exon 1139..1258 /gene="coseg" /number=1 mRNA join(1139..1258,2635..2836,3012..3244) /gene="coseg" intron 1259..2634 /gene="coseg" /number=1 exon 2635..2836 /gene="coseg" /number=2 allele 2657 /gene="coseg" /note="nucleotide different from normal allele in ADNDI patient" intron 2837..3011 /gene="coseg" /number=2 misc_feature 2872 /gene="coseg" /note="insertion in ADNDI patient compared to normal allele" exon 3012..3244 /gene="coseg" /number=3 BASE COUNT 592 a 1158 c 1167 g 605 t ORIGIN 1 ggtaccgggc ctgaacccca gaccagcggg cattctggtg gcccagggag agaggccatg 61 tcctctttag acctgccacc ttgggattag ggaccaaaag tggctttctc aggctgggtc 121 catttaggta tggctcctcc tgcaccttcc cccaggccca gacacccccc acccccggct 181 ctcccacccc aggcctgaga tgtacctgcc ctggttgcca catactaagg tcctggtggg 241 ggtaggaatt gggacaaact gttgtcaggt ttcctggggc tccccccgcc tttgaacctt 301 acttggcatg gagttctttc tccccatagt agctctccac actcatgttt ctacctggga 361 gggggtgacg ggtcatgtgc caatgtgtcc ccaaggcccc cagtttcagg gcctgagtcc 421 ccatgccctg ctctatgggg gtgcgggggt gtcatgtctt gcactttccc cagcaacctg 481 ccacccccct accctgtgag aacaagcccc tctcattctg tgtcccttga ctccacgacg 541 gcggctgcct tgtccacgag gcagggattc tcatctctgg tgcagcccct gtcctcacca 601 ctctgggctt gtgctgttct tggtccctta tcttgttgtc acagggctaa ccctccccac 661 acacctggct gtcccctgcc ccacagctcc taggccaggg cctgtccctg cccctaacac 721 gcagcccctc ggttcctctt accctcttct tggaccctac gccatttctg ggtaatcaga 781 aagctcagag atggtctcca ggtgaccccc cagtctgtcc ctctccctga atccagagcg 841 ctgcagtcac agtagaggca attgctgtca ttccgcggcc catgacagcc tggcggcccg 901 tacccctccc ccatgatccc ctgcacagac aggcccacgt gtgtccccag atgcctgaat 961 cactgctgac ggctggggac ctggcggccg tgggctcctg gggagccact ggggaggggg 1021 tggcggccgc gtctcgcctc cacgggaaca cctgcggaca taaataggca gccagcagag 1081 gcagcagcac agagccacca agcagtgctg catacggggt ccacctgtgt gcaccaggat 1141 gcctgacacc atgctgcccg cctgcttcct cggcctactg gccttctcct ccgcgtgcta 1201 cttccagaac tgcccgaggg gcggcaagag ggccatgtcc gacctggagc tgagacaggt 1261 acttcccact gtgggccatc tcagggctgc catagcgggc agtgctgaca ccctgggtca 1321 ggggctagga aagagggaag tcatgggtgg tggtagcctt taggggaagt tcgggggagg 1381 aagagggagg catggcatgg ctgggcagag gagccaatgg ggtgggccag aggggaccag 1441 gctttggagg aggctgggag aggctgaagg cgctcctggt cactgtcgcc atccagacag 1501 ggatgcagga aaatgaggga tgcttccccg gtgactgggc ttggggctgg atagggagaa 1561 cggggcatca tggcctcccc tgtgcccatg gcgttcttgc atctggactg gctggggcag 1621 cagaggctcc atcctaccta gcattggagg ctttcctcat ccagccccag cctcccagcc 1681 acaggcgccc aggcccccac acagaagatg gccactggtc tgagcgcgct tgagtggggc 1741 atcctgtggg gaagttctgc tgggaacctg gcctaattct atagtgctgg acgtttcctc 1801 catttccagc agagctgaag gaaatccaat cacgatgtgc atgcaattct gtccaggctc 1861 aatgatgagc ccttgagcaa attagaccac accaggctca gctaaaagtc taatgcgcta 1921 tccattgcgc cagagaaccg gctgttgagc agatgagagt ggccgctcgg caacccccgc 1981 agcctctctt cctcctgcta ggctccttta gggtcctgag gcacctgggt gtccgtgctc 2041 gcctctaggt ctcaggcccc tgccacccac ctgataggtc ataggtggct gagcaggggt 2101 cagggctcca gctgaggccg acaagcttgg cgggggccag gggcaaggca agagaggaga 2161 caggaaatgg gaagggccgg ggttctggat gggtagggcc tctccgcatg gtgtagtggg 2221 gaagggggtg ggcccgggct caagccgcag cagggcgagg aggaaggagg aagggtctgg 2281 agtggtggag ggtggggcag ctgcaacagt ggcgcccacc agcgatgacc ccgaggctcg 2341 aggaagggct ccccacgctg tagtccacgg gagacccgtc cctagctgag ggtgaggacg 2401 ctgagggctg tcaccgagag gtcatccaag aaaccaaggt gccgagcaga tctggacgcc 2461 ccgcccgtga ccgcggtcga ggcccagtgg cgcccgagcg tgcctgcagc cgcagccccg 2521 gtgtcccgcc cgcactccga gccctggacc ccagcatccc cgcctcgctg cgttcccctc 2581 caacccctcg actcccggct cccctcctcc cgctcacccc gcccgtcccc gcagtgcctc 2641 ccctgcggcc ccggggtcaa aggccgctgc ttcgggccca gcatctgctg cgcggacgag 2701 ctgggctgct tcgtgggcac ggctgaggcg ctgcgctgcc aggaggagaa ctacctgccg 2761 tcgccctgcc agtccggcca gaaggcgtgc gggagcgggg gccgctgcgc cgccttcggc 2821 gtttgctgca acgacggtgc gcggcggggg cgggcctggg gctggggggg ggcgcagacc 2881 gcttgggtgg gggggacgcg ggcctgcggc ggggtggggg ctgcgtcggg cccggcaggg 2941 agggtgtggg ccccccgcac cccgagctgc gcccgcccca gggcgcccgt gctcacacgt 3001 cctcccggca gagagctgcg tgaccgagcc cgagtgccgc gagggctttc accgccgcgc 3061 ccgcgccagc gaccggagca acgccacgca gctggacggg ccggccgggg ccttgctgct 3121 gcggctggtg cagctggccg gggcgcccga gcccttcgag cccgcccagc ccgacgccta 3181 ctgagccccg cgctcgcccc accggcgcgc tcttcgcgcc cgcccctgca gcacggacaa 3241 taaacctccg ccaatgcacg gcctcgcgtc tgtctcagtc tctggcggga agagggaagg 3301 ggagagaggt gggagcgcgg acccccgcca ccacgcccac cggccagtcc ccggacctga 3361 ggtcgtgggc agatccaccc cagagaagca acaggtcccg tagaggaagc gatctgggac 3421 ccgcagaggt gtcgctagac cgagggacag ggcgaattgg gaggcagggg agggggagac 3481 cagaggccga gagtggcctt ggagggggtg ggttgaggat cc //