Nephrogenic and Neurogenic Diabetes Insipidus
Home ] Up ] Search AVPR2 Mutations ] Description of Variables ] 3-D Model of the V2 Receptor ] Schematic of V2 Receptor ] [ DNA Sequence ] Primers ] Structure of Arginine Vasopressin ] Potential Nonsense Mutations & CpG Sites ] References ]

 

AVPR2


GenBank Accession Number L22206 (20-DEC-1993)

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].  See NCBI LocusLink for links to the AVPR2 Reference Sequence, other GenBank sequence accession numbers, and the UniGene cluster.

-235 <Exon 1 - 5' UTR>                                agaag atcctgggtt ctgtgcatcc
-210 gtctgtctga ccatccctct caatcttccc tgcccaggac tggccatact gccaccgcac acgtgcacac
-140 acgccaacag gcatctgcca tgctggcatc tctataaggg ctccagtcca gagaccctgg gccattgaac
 -70 ttgctcctca ggcagaggct gagtccgcac atcacctcca ggccctcaga acacctgccc cagccccacc

<Exon 1 - translated region>

     1          10           20     25
     |           |            |      |
     ATG CTC ATG GCG TCC ACC ACT TCC G
     Met Leu Met Ala Ser Thr Thr Ser A>      {Intron 1: 361 nts}
      1   2   3   4   5   6   7   8


  26 gtaaggcttg cccctccatg agtccggtgg gcagagtggg tttgacgatt cagggaagcc cctctttcta
  96 aagacctcct tcaccctcac ctctgggtgt gtctctccag gctgccaatg agtggggagg ggagcacagc
 166 cccacttccc cgccagggct ggggctgggg ctggggctgg ggctgccctt ccttctggac tgcatgagcc
 236 tggggtgtgt atccctcata acatggcttt cctggagtcc cctctgctag gagccaggaa gtgggtgtcc
 306 ggatgggggc acgggaggca ggcctgagtc cccctgcaca gcaccctctc taaccaggcc ctcttcccga
 376 ctcctgccca g

<Exon 2>

         390          400           410          420          430           440
          |            |             |            |            |             |
      CT GTG CCT GGG CAT CCC TCT CTG CCC AGC CTG CCC AGC AAC AGC AGC CAG GAG AGG CCA
      la Val Pro Gly His Pro Ser Leu Pro Ser Leu Pro Ser Asn Ser Ser Gln Glu Arg Pro
      9  10  11  12  13  14  15  16  17  18  19  20  21  22  23  24  25  26  27  28


        450           460           470          480          490           500
          |            |             |            |            |             |
     CTG GAC ACC CGG GAC CCG CTG CTA GCC CGG GCG GAG CTG GCG CTG CTC TCC ATA GTC TTT
     Leu Asp Thr Arg Asp Pro Leu Leu Ala Arg Ala Glu Leu Ala Leu Leu Ser Ile Val Phe
     29  30  31  32  33  34  35  36  37  38  39  40  41  42  43  44  45  46  47  48


         510          520           530          540          550           560
          |            |             |            |            |             |
     GTG GCT GTG GCC CTG AGC AAT GGC CTG GTG CTG GCG GCC CTA GCT CGG CGG GGC CGG CGG
     Val Ala Val Ala Leu Ser Asn Gly Leu Val Leu Ala Ala Leu Ala Arg Arg Gly Arg Arg
     49  50  51  52  53  54  55  56  57  58  59  60  61  62  63  64  65  66  67  68

         570          580           590          600          610           620
          |            |             |            |            |             |
     GGC CAC TGG GCA CCC ATA CAC GTC TTC ATT GGC CAC TTG TGC CTG GCC GAC CTG GCC GTG
     Gly His Trp Ala Pro Ile His Val Phe Ile Gly His Leu Cys Leu Ala Asp Leu Ala Val
     69  70  71  72  73  74  75  76  77  78  79  80  81  82  83  84  85  86  87  88


         630          640           650          660          670           680
          |            |             |            |            |             |
     GCT CTG TTC CAA GTG CTG CCC CAG CTG GCC TGG AAG GCC ACC GAC CGC TTC CGT GGG CCA
     Ala Leu Phe Gln Val Leu Pro Gln Leu Ala Trp Lys Ala Thr Asp Arg Phe Arg Gly Pro
     89  90  91  92  93  94  95  96  97  98  99  100 101 102 103 104 105 106 107 108

         690          700           710          720          730           740
          |            |             |            |            |             |
     GAT GCC CTG TGT CGG GCC GTG AAG TAT CTG CAG ATG GTG GGC ATG TAT GCC TCC TCC TAC
     Asp Ala Leu Cys Arg Ala Val Lys Tyr Leu Gln Met Val Gly Met Tyr Ala Ser Ser Tyr
     109 110 111 112 113 114 115 116 117 118 119 120 121 122 123 124 125 126 127 128


         750          760           770          780          790           800
          |            |             |            |            |             |
     ATG ATC CTG GCC ATG ACG CTG GAC CGC CAC CGT GCC ATC TGC CGT CCC ATG CTG GCG TAC
     Met Ile Leu Ala Met Thr Leu Asp Arg His Arg Ala Ile Cys Arg Pro Met Leu Ala Tyr
     129 130 131 132 133 134 135 136 137 138 139 140 141 142 143 144 145 146 147 148


         810          820           830          840          850           860
          |            |             |            |            |             |
     CGC CAT GGA AGT GGG GCT CAC TGG AAC CGG CCG GTG CTA GTG GCT TGG GCC TTC TCG CTC
     Arg His Gly Ser Gly Ala His Trp Asn Arg Pro Val Leu Val Ala Trp Ala Phe Ser Leu
     149 150 151 152 153 154 155 156 157 158 159 160 161 162 163 164 165 166 167 168


         870          880           890          900          910            920
          |            |             |            |            |              |
     CTT CTC AGC CTG CCC CAG CTC TTC ATC TTC GCC CAG CGC AAC GTG GAA GGT GGC AGC GGG
     Leu Leu Ser Leu Pro Gln Leu Phe Ile Phe Ala Gln Arg Asn Val Glu Gly Gly Ser Gly
     169 170 171 172 173 174 175 176 177 178 179 180 181 182 183 184 185 186 187 188

         930          940           950          960          970           980
          |            |             |            |            |             |
     GTC ACT GAC TGC TGG GCC TGC TTT GCG GAG CCC TGG GGC CGT CGC ACC TAT GTC ACC TGG
     Val Thr Asp Cys Trp Ala Cys Phe Ala Glu Pro Trp Gly Arg Arg Thr Tyr Val Thr Trp
     189 190 191 192 193 194 195 196 197 198 199 200 201 202 203 204 205 206 207 208

         990         1000          1010         1020         1030          1040
          |            |             |            |            |             |
     ATT GCC CTG ATG GTG TTC GTG GCA CCT ACC CTG GGT ATC GCC GCC TGC CAG GTG CTC ATC
     Ile Ala Leu Met Val Phe Val Ala Pro Thr Leu Gly Ile Ala Ala Cys Gln Val Leu Ile
     209 210 211 212 213 214 215 216 217 218 219 220 221 222 223 224 225 226 227 228


        1050         1060          1070         1080         1090          1100
          |            |             |            |            |             |
     TTC CGG GAG ATT CAT GCC AGT CTG GTG CCA GGG CCA TCA GAG AGG CCT GGG GGG CGC CGC
     Phe Arg Glu Ile His Ala Ser Leu Val Pro Gly Pro Ser Glu Arg Pro Gly Gly Arg Arg
     229 230 231 232 233 234 235 236 237 238 239 240 241 242 243 244 245 246 247 248


        1110         1120          1130         1140         1150          1160
          |            |             |            |            |             |
     AGG GGA CGC CGG ACA GGC AGC CCC GGT GAG GGA GCC CAC GTG TCA GCA GCT GTG GCC AAG
     Arg Gly Arg Arg Thr Gly Ser Pro Gly Glu Gly Ala His Val Ser Ala Ala Val Ala Lys
     249 250 251 252 253 254 255 256 257 258 259 260 261 262 263 264 265 266 267 268


        1170         1180          1190         1200         1210          1220
          |            |             |            |            |             |
     ACT GTG AGG ATG ACG CTA GTG ATT GTG GTC GTC TAT GTG CTG TGC TGG GCA CCC TTC TTC
     Thr Val Arg Met Thr Leu Val Ile Val Val Val Tyr Val Leu Cys Trp Ala Pro Phe Phe
     269 270 271 272 273 274 275 276 277 278 279 280 281 282 283 284 285 286 287 288


        1230         1240          1250         1260         1270
          |            |             |            |            |
     CTG GTG CAG CTG TGG GCC GCG TGG GAC CCG GAG GCA CCT CTG GAA G
     Leu Val Gln Leu Trp Ala Ala Trp Asp Pro Glu Ala Pro Leu Glu G>   {Intron 2: 106 nts}
     289 290 291 292 293 294 295 296 297 298 299 300 301 302 303


1272 gtgggtgtag ccgtggctag ggctgacggg gccacttggg cttggccgca tgcccctgtg ccccaccagc
1342 catcctgaac ccaacctaga tcctccacct ccacag

<Exon 3 - translated region>

       1380         1390         1400          1410         1420         1430
         |            |            |             |            |            |
      GG GCG CCC TTT GTG CTA CTC ATG TTG CTG GCC AGC CTC AAC AGC TGC ACC AAC CCC TGG
      ly Ala Pro Phe Val Leu Leu Met Leu Leu Ala Ser Leu Asn Ser Cys Thr Asn Pro Trp
     304 305 306 307 308 309 310 311 312 313 314 315 316 317 318 319 320 321 322 323


       1440         1450         1460          1470         1480         1490
         |            |            |             |            |            |
     ATC TAT GCA TCT TTC AGC AGC AGC GTG TCC TCA GAG CTG CGA AGC TTG CTC TGC TGT GCC
     Ile Tyr Ala Ser Phe Ser Ser Ser Val Ser Ser Glu Leu Arg Ser Leu Leu Cys Cys Ala
     324 325 326 327 328 329 330 331 332 333 334 335 336 337 338 339 340 341 342 343


       1500         1510         1520          1530         1540          1550
         |            |            |             |            |            |
     CGG GGA CGC ACC CCA CCC AGC CTG GGT CCC CAA GAT GAG TCC TGC ACC ACC GCC AGC TCC
     Arg Gly Arg Thr Pro Pro Ser Leu Gly Pro Gln Asp Glu Ser Cys Thr Thr Ala Ser Ser
     344 345 346 347 348 349 350 351 352 353 354 355 356 357 358 359 360 361 362 363


       1560         1570         1580 1583
         |            |            |   |
     TCC CTG GCC AAG GAC ACT TCA TCG TGA
     Ser Leu Ala Lys Asp Thr Ser Ser Ter>     <Exon 3 - 3' UTR>
     364 365 366 367 368 369 370 371


1584 ggagctgttg ggtgtcttgc ctctagaggc tttgagaagc tcagctgcct tcctggggct ggtcctggga
1654 gccactggga gggggacccg tggagaattg gccagagcct gtggccccga ggctgggaca ctgtgtggcc
1724 ctggacaagc cacagcccct gcctgggtct ccacatcccc agctgtatga ggagagcttc aggccccagg
1794 actgtggggg cccctcaggt cagctcactg agctgggtgt aggaggggct gcagcagagg cctgaggagt
1864 ggcaggaaag agggagcagg tgcccccagg tgagacagcg gtcccagggg cctgaaaagg aaggaccagg
1934 ctggggccag gggaccttcc tgtctccgcc tttctaatcc ctccctcctc attctctccc taataaaaat
2004 tggagctcat tttccacatg gcaaggggtc tccttgga <end of exon 3> tcctct


Page last modified: 04 April 2000

Site last modified: 24 October 2003