aquaporin 2 (collecting duct) (AQP2) - coding DNA reference sequence

(used for variant description)

(last modified August 31, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_000486.5 in the AQP2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008913.1, covering AQP2 transcript NM_000486.5.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                               .         .         .                g.5030
                               cttgagaaagagagcgatagagtgcgagag       c.-61

 .         .         .         .         .         .                g.5090
 cgagtgcccggagcatcctggccctgagacagctgggccagccccgcagggctctgcagc       c.-1

          .         .         .         .         .         .       g.5150
 ATGTGGGAGCTCCGCTCCATAGCCTTCTCCAGGGCTGTGTTCGCAGAGTTCCTGGCCACA       c.60
 M  W  E  L  R  S  I  A  F  S  R  A  V  F  A  E  F  L  A  T         p.20

          .         .         .         .         .         .       g.5210
 CTCCTCTTCGTCTTCTTTGGCCTCGGCTCTGCCCTCAACTGGCCACAGGCCCTGCCCTCT       c.120
 L  L  F  V  F  F  G  L  G  S  A  L  N  W  P  Q  A  L  P  S         p.40

          .         .         .         .         .         .       g.5270
 GTGCTACAGATTGCCATGGCGTTTGGCTTGGGTATTGGCACCCTGGTACAGGCTCTGGGC       c.180
 V  L  Q  I  A  M  A  F  G  L  G  I  G  T  L  V  Q  A  L  G         p.60

          .         .         .         .         .         .       g.5330
 CACATAAGCGGGGCCCACATCAACCCTGCCGTGACTGTGGCCTGCCTGGTGGGCTGCCAC       c.240
 H  I  S  G  A  H  I  N  P  A  V  T  V  A  C  L  V  G  C  H         p.80

          .         .         .         .         .         .       g.5390
 GTCTCCGTTCTCCGAGCCGCCTTCTACGTGGCTGCCCAGCTGCTGGGGGCTGTGGCCGGA       c.300
 V  S  V  L  R  A  A  F  Y  V  A  A  Q  L  L  G  A  V  A  G         p.100

          .         .         .         .         .         .       g.5450
 GCCGCTCTGCTCCATGAGATCACGCCAGCAGACATCCGCGGGGACCTGGCTGTCAATGCT       c.360
 A  A  L  L  H  E  I  T  P  A  D  I  R  G  D  L  A  V  N  A         p.120

  | 02       .         .         .         .         .         .    g.8474
  | CTCAGCAACAGCACGACGGCTGGCCAGGCGGTGACTGTGGAGCTCTTCCTGACACTGCAG    c.420
  | L  S  N  S  T  T  A  G  Q  A  V  T  V  E  L  F  L  T  L  Q      p.140

          .         .         .         .         .         .       g.8534
 CTGGTGCTCTGCATCTTCGCCTCCACCGATGAGCGCCGCGGAGAGAACCCGGGCACCCCT       c.480
 L  V  L  C  I  F  A  S  T  D  E  R  R  G  E  N  P  G  T  P         p.160

          .         .         .         .      | 03  .         .    g.8904
 GCTCTCTCCATAGGCTTCTCCGTGGCCCTGGGCCACCTCCTTGGG | ATCCATTACACCGGC    c.540
 A  L  S  I  G  F  S  V  A  L  G  H  L  L  G   | I  H  Y  T  G      p.180

          .         .         .         .         .         .       g.8964
 TGCTCTATGAATCCTGCCCGCTCCCTGGCTCCAGCTGTCGTCACTGGCAAATTTGATGAC       c.600
 C  S  M  N  P  A  R  S  L  A  P  A  V  V  T  G  K  F  D  D         p.200

        | 04 .         .         .         .         .         .    g.9712
 CACTGG | GTCTTCTGGATCGGACCCCTGGTGGGCGCCATCCTGGGCTCCCTCCTCTACAAC    c.660
 H  W   | V  F  W  I  G  P  L  V  G  A  I  L  G  S  L  L  Y  N      p.220

          .         .         .         .         .         .       g.9772
 TACGTGCTGTTTCCGCCAGCCAAGAGCCTGTCGGAGCGCCTGGCAGTGCTGAAGGGCCTG       c.720
 Y  V  L  F  P  P  A  K  S  L  S  E  R  L  A  V  L  K  G  L         p.240

          .         .         .         .         .         .       g.9832
 GAGCCGGACACCGATTGGGAGGAGCGCGAGGTGCGACGGCGGCAGTCGGTGGAGCTGCAC       c.780
 E  P  D  T  D  W  E  E  R  E  V  R  R  R  Q  S  V  E  L  H         p.260

          .         .         .                                     g.9868
 TCGCCGCAGAGCCTGCCACGGGGTACCAAGGCCTGA                               c.816
 S  P  Q  S  L  P  R  G  T  K  A  X                                 p.271

          .         .         .         .         .         .       g.9928
 gggccgccagcggcctctaaggccccgacggacgcttgtgaggcccgaggcagaagggcc       c.*60

          .         .         .         .         .         .       g.9988
 caccccgtccctcctctcccgcaggtctgaagttggccccccagcgcagagtagctgctt       c.*120

          .         .         .         .         .         .       g.10048
 cctggacgtgcgcgcccaggccagtgctgtgagcaggcggggaggaggctgccggaggga       c.*180

          .         .         .         .         .         .       g.10108
 gccctgagcctggcaggtcccctgccctgaggctgtgagcagctagtggtggcttctcca       c.*240

          .         .         .         .         .         .       g.10168
 gcctttttcagggaactgggaacttaggggactgagctggggagggaggcaggtgggtgg       c.*300

          .         .         .         .         .         .       g.10228
 taagagggaaactctggagagcctgcacccaggtactgagtggggagtgtacagacccct       c.*360

          .         .         .         .         .         .       g.10288
 gccttgggggttccgggaatgatgcaactggttttactagtgtgcaagtgtgttcatccc       c.*420

          .         .         .         .         .         .       g.10348
 caagttctcttttgtcctcacatgcagagttgtgcatgcccctgagtgtgaacaggtttg       c.*480

          .         .         .         .         .         .       g.10408
 cctacgttggtgcaagtgtgcatggctggggacttctcacttccccttgcaccccttcct       c.*540

          .         .         .         .         .         .       g.10468
 ccccaacctgcaataaatccgcttctcctgcagtggatgagtgtgggtgccagtcctcct       c.*600

          .         .         .         .         .         .       g.10528
 caggagaaggggaagggaaggaggccactttgagagggctgaagggagggccttgatttc       c.*660

          .         .         .         .         .         .       g.10588
 cagccgcaatctggctcctcctggaaaatttcccccacctgcagcgctgggccccaaggc       c.*720

          .         .         .         .         .         .       g.10648
 ttgccaagactcattgctggaggtagagaggtgtcaaccagagaacagctcccctagaca       c.*780

          .         .         .         .         .         .       g.10708
 tggcctctggaaaaaggaaatctttggtggccaaagatttcctttctgtggtgagggaga       c.*840

          .         .         .         .         .         .       g.10768
 acctctccaaagaggaagcaggcatatgagtgcgcacgccttcacgtgtgtgtatgctgt       c.*900

          .         .         .         .         .         .       g.10828
 gtgtgcccgggacccccgtctccaggggtgccccagacccagagattagcctcccacttc       c.*960

          .         .         .         .         .         .       g.10888
 ggcgcagaaaacaaaagccctttgtgggacccgggcctttgtcttgggtgaggggagatt       c.*1020

          .         .         .         .         .         .       g.10948
 tgcacctagacacttcttgaaaggagacactcagtttcacaagtgagccctcttgcccag       c.*1080

          .         .         .         .         .         .       g.11008
 cacacacctatggctggctgggcaaggcgctcaggcatgcaaccatgggcaccaggcaat       c.*1140

          .         .         .         .         .         .       g.11068
 acccatccatcacccatctcactctccccagtcctcaggcagcagcttttccaccccagg       c.*1200

          .         .         .         .         .         .       g.11128
 aatctctgttccttctctgtctgcctctccacagcccgtgatcccctgcttctggctcct       c.*1260

          .         .         .         .         .         .       g.11188
 accactggacagtcattgtggatagagcagcctgctgctctcaggaccagagaagggaaa       c.*1320

          .         .         .         .         .         .       g.11248
 tgacttctccaggcagaggcagatctgagtctagaacccaggcttctaaatttctaggcc       c.*1380

          .         .         .         .         .         .       g.11308
 agtactactgctctcaaaagagattaactgggattaagtgagatgacgcatgtaaagatg       c.*1440

          .         .         .         .         .         .       g.11368
 ctgtgtaaactgtaattcttaataccattatcacgcattactagaatcatttcattattt       c.*1500

          .         .         .         .         .         .       g.11428
 ctgcttcctgggggaaggatgcagaaggagtctgatgctcaacatcccttacctcctttc       c.*1560

          .         .         .         .         .         .       g.11488
 gttgatggccaaagcaaaggagagtcctgggagcccacaagatccaggcagaaggagatg       c.*1620

          .         .         .         .         .         .       g.11548
 ggtttggggctggccccatcctggcccagcctcttaacctcttcttaccctgaatgtgtg       c.*1680

          .         .         .         .         .         .       g.11608
 ccctatcttttctcccacctccttcctcctaccacccagccctatccattctctccttcc       c.*1740

          .         .         .         .         .         .       g.11668
 ctctccagcctgctgtataagtaacatgtgggtcataccttgaacccccctccgccccca       c.*1800

          .         .         .         .         .         .       g.11728
 tgctctctgtggcctccatgccttcaagacttctgtctgtatctatctcacactgcacca       c.*1860

          .         .         .         .         .         .       g.11788
 agcacccactgtgcaccaggcactaagtctctagcctctttctcccttctgctcccatcc       c.*1920

          .         .         .         .         .         .       g.11848
 aagaaagacagtgtataaggaacatctctgtaattgtgtcccctctcatctatgctcttt       c.*1980

          .         .         .         .         .         .       g.11908
 cctgtcttccttgaccaaagctctctttgaggtccaaaaaaggctgccctgggccatatg       c.*2040

          .         .         .         .         .         .       g.11968
 tgctatggagaggactctcccaaacccccaatagctagtgacagccacttggcctcacta       c.*2100

          .         .         .         .         .         .       g.12028
 ccagaagaagggtggagtcagaaaccaaagtgacctccagagctgtcctcctggcacctg       c.*2160

          .         .         .         .         .         .       g.12088
 agtgtccttgctctagaggttcaaaggcagcaaggcagtgagctatgagcccagcatgga       c.*2220

          .         .         .         .         .         .       g.12148
 tgtgtctcaggcacctcatccccaccccacctcaccccaacaaactcctctagaagaagc       c.*2280

          .         .         .         .         .         .       g.12208
 caagaatttctctctatgtctgtttcactttttggattgcatctccccaaaaactaaatg       c.*2340

          .         .         .         .         .         .       g.12268
 tgaaatccctaccatttctagcctctattgcccagattggagtcagaggtcaaaaaagga       c.*2400

          .         .         .         .         .         .       g.12328
 ttccaagtgatggaactccaggggtggagggaaattggcagttcctggcatctcttgtgt       c.*2460

          .         .         .         .         .         .       g.12388
 accagctgctgtgctgggtgccttgcatgcacggacttatctgatcttcctcaaacttca       c.*2520

          .         .         .         .         .         .       g.12448
 gataggttagggaaggacaaaggcccccagccatgaagggttttgctatttccaaagctt       c.*2580

          .         .         .         .         .         .       g.12508
 ccccttatcgtcccctgtgattatctcccaaccccgtgacaaaggtagagcaaatattgt       c.*2640

          .         .         .         .         .         .       g.12568
 tcttcccattttacagattcagaaaccaaggctaagggactggtctaaagtctcacaggt       c.*2700

          .         .         .         .         .         .       g.12628
 agtatatggtggagccaacacttgaactcagacctttttacacaaaatcccatgattttt       c.*2760

          .         .         .         .         .         .       g.12688
 ccactgagacaaatcctaggctcctgggaggccctggcagaagccagaacacatggctgg       c.*2820

          .         .         .         .         .         .       g.12748
 gcctttccagcccaacccactgtcttgcagtggacggagagccttggcgagggcagcagg       c.*2880

          .         .         .         .         .         .       g.12808
 gtagagaggacaaagaatgtggggctggtttctgccctttaagagcacccggtcagtcag       c.*2940

          .         .         .         .         .         .       g.12868
 agaacagagatcacacacaccaaaccagacagaggcagggcagcatggagacaggtagac       c.*3000

          .         .         .         .         .         .       g.12928
 agacctccaggtccctaagctggggacagagaaggttctgagctgtcccatactcccact       c.*3060

          .         .         .         .         .         .       g.12988
 ttgtgccaaatgactttgcacctgcaaatggtgcttcaatgtcgttttgtatctttaagc       c.*3120

          .         .         .         .         .         .       g.13048
 tgtgatgttgtatatatacaatgcctcccagctagactgtaagccctttggggacaaggg       c.*3180

          .         .         .         .         .         .       g.13108
 ctgcttccagttcttggatggcgttctcctatctaccttccttcaactgctctgcatata       c.*3240

          .         .         .                                     g.13141
 ataagcactcaataaatgctcatttgccaataa                                  c.*3273

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The Aquaporin 2 (collecting duct) protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.