Nephrogenic and Neurogenic Diabetes Insipidus
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AVP


GenBank Accession Number M11166 (02-MAY-1996) modified (sequence in bold) according to corrections in M. Ito et al., Journal of Clinical Investigation 87:725-728, 1991).  See NCBI LocusLink for links to the AVP Reference Sequence, other GenBank sequence accession numbers, and the UniGene cluster.

The nucleotides are numbered according to the recommendation for genomic DNA sequence and correspond to the numbers used in the systematic names of mutations [S.E. Antonarakis and the Nomenclature Working Group, Human Mutation 11:1-3, 1998].

-224 {5' sequence: 174 nts}                 gatc ccctgcacag acaggcccac gtgtgtcccc 
-190 agatgcctga atcactgctg accgctgggg acctggcggc cgtgggctcc tggggagcca ctggggaggg 
-120 ggtggcggcc gcgtctcgcc tccacgggaa cacctgcgga cataaatagg cagccagcag aggcagcagc

<Exon 1 - 5' UTR>

 -50 acagagccac caagcagtgc tgcatacggg gtccacctgt gtgcaccagg 


<Exon 1 - translated region>

     1          10           20           30            40           50           60
     |           |            |            |             |            |            |
     ATG CCT GAC ACC ATG CTG CCC GCC TGC TTC CTC GGC CTA CTG GCC TTC TCC TCC GCG TGC
     Met Pro Asp Thr Met Leu Pro Ala Cys Phe Leu Gly Leu Leu Ala Phe Ser Ser Ala Cys
     1   2   3   4    5   6   7   8   9  10  11  12  13  14  15  16  17  18  19  20

                70           80           90            100          110          120
                 |            |            |             |            |            |
     TAC TTC CAG AAC TGC CCG AGG GGC GGC AAG AGG GCC ATG TCC GAC CTG GAG CTG AGA CAG
     Tyr Phe Gln Asn Cys Pro Arg Gly Gly Lys Arg Ala Met Ser Asp Leu Glu Leu Arg Gln
     21  22  23  24  25  26  27  28  29  30  31  32  33  34  35  36  37  38  39  40


{Intron 1: 1373 nts}
                       
 121 gtacttccca ctgtgggcca tctcagggca gccatagcgg gcagtgctga caccctgggt caggggctag
 191 gaaagaggga agtcatgggt ggtggtagcc tttaggggaa gttcggggga ggaagaggga ggcatggcat
 261 ggctgggcag aggagccaat ggggtgggcc agaggggacc aggctttgga ggaggctggg agaggctgaa
 331 ggcgctcctg gtcactgtcg ccatccagac agggatgcag gaaaatgagg gatgcttccc cggtgactgg
 401 gcttggggct ggatagggag aacggggcat catggcctcc cctgtgccca tggcgttctt gcatctggac
 471 tggctggggc agcagaggct ccatcctacc tagcattgga ggctttcctc atccagcccc agcctcccag
 541 ccacaggcgc ccaggccccc acacagaaga tggccactgg tctgagcgcg cttgagtggg gcatcctgtg
 611 ggaagttctg ctgggaacct ggcctaattc tatagtgctg gacgtttcct ccatttccag cagagctgaa
 681 ggaaatccaa tcacgatgtg catgcaattc tgtccagctc aatgatgagc ccttgagcaa attagaccac
 751 accaggctca cgtaaaagtc taatcgcgta tccattgcgc cagagaaccg gctgttgagc agatgagagt
 821 gcgcgctcgg caacccccgc agcctctctt cctcctgcta ggctccttta gggtcctgag ggcacctggg
 891 tgtccgtgct cgcctctagg tctcagcccc tgccacccac ctgataggtc ataggtggct gagcaggggt
 961 cagggctcca gctgaggccg acaagcttgg cggggccagg gcgaaggcaa gagaggagac aggaaatggg
1031 aagggccggg gttctggatg ggtagggcct ctccgcatgg tgtagtgggg aagggggtgg gcccgggctc
1101 aagccgcagc agggcgagga ggaaggagga agggtctgga gtggtggagg gtggggcagc tgcaacagtg
1171 gcgcccacca gcgatgaccc cgaggctcga ggaagggctc cccacgctgt agtccacggg agacccgacc
1241 ctagctgagg gtgaggacgc tgagggctgt caccgagagg tcatccaaga aaccaaggtg ccgagcagat
1311 ctggacgccc cgcccgtgac cgcggtcgag gcccagtggc gcccgagcgt gcctgcagcc gcagccccgg
1381 tgtcccgccc gcactccgag ccctggaccc cagcatcccc gcctcgctgc gttcccctcc aacccctcga
1451 ctcccggctc ccctcctccc gctcaccccg cccgtccccg cag


<Exon 2>

           1500         1510         1520          1530         1540         1550
             |            |            |             |            |            |
     TGC CTC CCC TGC GGC CCC GGG GGC AAA GGC CGC TGC TTC GGG CCC AGC ATC TGC TGC GCG
     Cys Leu Pro Cys Gly Pro Gly Gly Lys Gly Arg Cys Phe Gly Pro Ser Ile Cys Cys Ala
     41  42  43  44  45  46  47  48  49  50  51  52  53  54  55  56  57  58  59  60 

           1560         1570          1580         1590         1600         1610
             |            |             |            |            |            |         
     GAC GAG CTG GGC TGC TTC GTG GGC ACG GCT GAG GCG CTG CGC TGC CAG GAG GAG AAC TAC
     Asp Glu Leu Gly Cys Phe Val Gly Thr Ala Glu Ala Leu Arg Cys Gln Glu Glu Asn Tyr
     61  62  63  64  65  66  67  68  69  70  71  72  73  74  75  76  77  78  79  80

           1620         1630          1640         1650         1660         1670      
             |            |             |            |            |            |         
     CTG CCG TCG CCC TGC CAG TCC GGC CAG AAG GCG TGC GGG AGC GGG GGC CGC TGC GCC GCC
     Leu Pro Ser Pro Cys Gln Ser Gly Gln Lys Ala Cys Gly Ser Gly Gly Arg Cys Ala Ala
     81  82  83  84  85  86  87  88  89  90  91  92  93  94  95  96  97  98  99  100

           1680         1690 
             |            | 
     TTC GGC GTT TGC TGC AAC GAC G
     Phe Gly Val Cys Cys Asn Asp G>        {Intron-2: 167 nts}
     101 102 103 104 105 106 107


1696 gtgcgcggcg ggggcgggcc tggggggggg cgcagacgct tgggtggggg ggacgcgggc ctgcggcggg
1766 gtgggggctc gtgcgggccc ggcagggagg gtgtgggccc cccgcacccc gagctgcgcc cgccccaggc
1836 gcccgtgctc acacgtcctc ccggcag


<Exon 3 - translated region>

             1870          1880         1890         1900          1910         1920
               |             |            |            |             |            |         
      AG AGC TGC GTG ACC GAG CCC GAG TGC CGC GAG GGC TTT CAC CGC CGC GCC CGC GCC AGC
      lu Ser Cys Val Thr Glu Pro Glu Cys Arg Glu Gly Phe His Arg Arg Ala Arg Ala Ser
     108 109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127

             1930          1940         1950         1960          1970         1980            
               |             |            |            |             |            |          
     GAC CGG AGC AAC GCC ACG CAG CTG GAC GGG CCG GCC GGG GCC TTG CTG CTG CGG CTG GTG
     Asp Arg Ser Asn Ala Thr Gln Leu Asp Gly Pro Ala Gly Ala Leu Leu Leu Arg Leu Val
     128 129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147

             1990         2000          2010         2020          2030         
               |             |            |            |             |
     CAG CTG GCC GGG GCG CCC GAG CCC TTC GAG CCC GCC CAG CCC GAC GCC TAC TGA 
     Gln Leu Ala Gly Ala Pro Glu Pro Phe Glu Pro Ala Gln Pro Asp Ala Tyr Ter
     148 149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164


<Exon 3 - 3'UTR>

2036 gccccgcgct cgccccaccg gcgcgctctt cgcgcccgcc cctgcagcac ggacaataaa cctccgccaa
2106 tgcacggcct cgcgtctgtc <end of exon 3> tcagt ctctggcggg aagagggaag gggagagagg
2161 tgggagcgcg gacccccgcc accacgccca ccggccagtc cccggacctg aggtcgtggg cagatccacc
2231 ccagagaagc aacaggtccc gtagaggaag cgatctggga cccgcagagg t

Last modified: 12 May 1999


Last modified: 18 August 1999

Site last modified: 24 October 2003