Anoctamin 5 (ANO5) - coding DNA reference sequence

(used for mutation description)

(last modified February 12, 2010)


This file was created to facilitate the description of sequence variants in the ANO5 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_015844.1, covering ANO5 transcript variant 1 (NM_213599.2). Exon 3 is alternatively spliced in ANO5 transcript variant 2 (NM_001142649.1).

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5017
                                            agagcgcccaggagcgc       c.-301

 .         .         .         .         .         .                g.5077
 taccggctgagggtggggaagcgcagggccaagcgcgcgaagcaggttgtgggggaccgg       c.-241

 .         .         .         .         .         .                g.5137
 gtcgagtggaagtacccgccggagaggaaggccggctggctgtggcgcccagagacggtg       c.-181

 .         .         .         .         .         .                g.5197
 gagtccgaggaggaggagaaggaggcctgcagaaggaagagcaggcccttagaagtccag       c.-121

 .         .         .         .         .         .                g.5257
 cagcagcaactccggcggcccacagtcagattcagcacctgcctcagatctccacgtctg       c.-61

 .         .         .         .         .         .                g.5317
 tctcagctgcccctctcctgctgcctctcaggcaccagtgccattaacgagctggcgaag       c.-1

          .         .         .         . | 02       .         .    g.15648
 ATGGGCGACCCGGATCTCCTGGAAGTGTTGGCGGAGGAAG | GGGAAAAAGTCAATAAGCAT    c.60
 M  G  D  P  D  L  L  E  V  L  A  E  E  G |   E  K  V  N  K  H      p.20

          .         .        | 03. /          .         .         .    g.23121
 ATAGACTACTCTTTCCAAATGAGTGAG | CAG / AGCCTGAGCAGCAGAGAGACCAGCTTTCTC    c.120
 I  D  Y  S  F  Q  M  S  E   | Q   / S  L  S  S  R  E  T  S  F  L      p.40
            alternatively spliced  ^

          .         | 04         .         .         .         .    g.30112
 ATCAATGAAGAAACAATG | CCTGCAAAGCGATTCAATTTGTTCCTGAGGCGGCGGCTTATG    c.180
 I  N  E  E  T  M   | P  A  K  R  F  N  L  F  L  R  R  R  L  M      p.60

  | 05       .         .         .         .         .         .    g.32981
  | TTTCAAAAAAATCAGCAAAGCAAAGATTCTATCTTCTTCCGAGATGGGATTAGGCAAATT    c.240
  | F  Q  K  N  Q  Q  S  K  D  S  I  F  F  R  D  G  I  R  Q  I      p.80

          .         .         .         .         .     | 06   .    g.37814
 GATTTTGTGCTTTCCTACGTTGATGATGTAAAGAAAGACGCAGAGTTAAAGGCG | GAAAGA    c.300
 D  F  V  L  S  Y  V  D  D  V  K  K  D  A  E  L  K  A   | E  R      p.100

          .         .         .         .         .         .       g.37874
 AGAAAAGAGTTTGAAACTAATCTCAGAAAAACAGGTCTTGAGTTGGAAATAGAAGACAAA       c.360
 R  K  E  F  E  T  N  L  R  K  T  G  L  E  L  E  I  E  D  K         p.120

     | 07    .         .         .         .         .         .    g.39183
 AGG | GACTCGGAAGATGGAAGAACTTATTTTGTCAAGATCCATGCCCCTTGGGAGGTATTA    c.420
 R   | D  S  E  D  G  R  T  Y  F  V  K  I  H  A  P  W  E  V  L      p.140

          .         .         .         .         .         .       g.39243
 GTTACCTATGCTGAAGTCTTGGGAATCAAAATGCCTATTAAGGAGAGTGATATTCCCCGC       c.480
 V  T  Y  A  E  V  L  G  I  K  M  P  I  K  E  S  D  I  P  R         p.160

          .         .         .         .         .         .       g.39303
 CCTAAGCACACTCCTATAAGCTATGTGCTTGGACCTGTAAGACTCCCACTGAGTGTGAAG       c.540
 P  K  H  T  P  I  S  Y  V  L  G  P  V  R  L  P  L  S  V  K         p.180

          .         .         .         .         .         .       g.39363
 TATCCCCATCCTGAATATTTTACTGCACAATTCAGCAGACATCGGCAGGAGCTCTTCCTC       c.600
 Y  P  H  P  E  Y  F  T  A  Q  F  S  R  H  R  Q  E  L  F  L         p.200

          .         .         .         .         | 08         .    g.47999
 ATCGAAGATCAGGCAACCTTCTTTCCATCCTCATCAAGAAACAGAATT | GTGTACTATATT    c.660
 I  E  D  Q  A  T  F  F  P  S  S  S  R  N  R  I   | V  Y  Y  I      p.220

          .         .         .         .         .         .       g.48059
 CTCTCAAGATGTCCTTTTGGCATAGAAGATGGGAAGAAAAGGTTTGGGATTGAAAGACTG       c.720
 L  S  R  C  P  F  G  I  E  D  G  K  K  R  F  G  I  E  R  L         p.240

          .         .         .         .   | 09     .         .    g.51411
 CTAAACTCTAACACTTACTCATCTGCCTATCCACTCCATGAT | GGCCAATATTGGAAGCCA    c.780
 L  N  S  N  T  Y  S  S  A  Y  P  L  H  D   | G  Q  Y  W  K  P      p.260

          .         .         .         .         .         .       g.51471
 TCAGAACCTCCCAATCCTACCAATGAAAGATACACACTTCACCAGAATTGGGCTCGATTT       c.840
 S  E  P  P  N  P  T  N  E  R  Y  T  L  H  Q  N  W  A  R  F         p.280

          .         .         .         | 10         .         .    g.62083
 TCCTATTTCTACAAGGAGCAGCCTTTAGACTTGATTAA | GAATTATTATGGAGAAAAAATT    c.900
 S  Y  F  Y  K  E  Q  P  L  D  L  I  K  |  N  Y  Y  G  E  K  I      p.300

          .         .         .         .         .         .       g.62143
 GGTATCTATTTTGTCTTTCTTGGATTTTACACAGAAATGCTATTCTTTGCAGCTGTAGTT       c.960
 G  I  Y  F  V  F  L  G  F  Y  T  E  M  L  F  F  A  A  V  V         p.320

          .         .         .         .         .    | 11    .    g.62572
 GGCTTAGCTTGTTTTATTTATGGCTTATTATCAATGGAACATAACACAAGCAG | CACTGAA    c.1020
 G  L  A  C  F  I  Y  G  L  L  S  M  E  H  N  T  S  S  |  T  E      p.340

          .         .         .         .         .         .       g.62632
 ATCTGTGACCCTGAGATTGGTGGTCAGATGATCATGTGCCCACTCTGTGATCAAGTGTGT       c.1080
 I  C  D  P  E  I  G  G  Q  M  I  M  C  P  L  C  D  Q  V  C         p.360

          .         .         .          | 12        .         .    g.62796
 GATTATTGGAGACTAAATAGTACGTGTTTGGCTTCAAAG | TTCTCCCATTTGTTTGATAAT    c.1140
 D  Y  W  R  L  N  S  T  C  L  A  S  K   | F  S  H  L  F  D  N      p.380

          .         .         .         . | 13       .         .    g.67215
 GAGTCAACAGTGTTCTTTGCAATATTCATGGGAATTTGGG | TCACCTTATTTTTGGAGTTT    c.1200
 E  S  T  V  F  F  A  I  F  M  G  I  W  V |   T  L  F  L  E  F      p.400

          .         .         .         .         .         .       g.67275
 TGGAAACAACGACAAGCCAGACTGGAATATGAATGGGACCTGGTGGACTTTGAAGAGGAA       c.1260
 W  K  Q  R  Q  A  R  L  E  Y  E  W  D  L  V  D  F  E  E  E         p.420

          .         .         .         .         .         .       g.67335
 CAGCAGCAGCTTCAGCTGAGACCAGAATTTGAAGCTATGTGTAAACACAGGAAATTGAAT       c.1320
 Q  Q  Q  L  Q  L  R  P  E  F  E  A  M  C  K  H  R  K  L  N         p.440

          .   | 14     .         .         .         .         .    g.69552
 GCAGTGACTAAG | GAGATGGAACCTTACATGCCTCTATACACGCGTATTCCATGGTACTTT    c.1380
 A  V  T  K   | E  M  E  P  Y  M  P  L  Y  T  R  I  P  W  Y  F      p.460

          .         .        | 15.         .         .         .    g.71376
 CTTTCAGGAGCCACAGTGACATTATGG | ATGTCTCTTGTCGTCACCAGTATGGTAGCTGTA    c.1440
 L  S  G  A  T  V  T  L  W   | M  S  L  V  V  T  S  M  V  A  V      p.480

          .         .         .         .         .         .       g.71436
 ATTGTGTACCGCCTGTCAGTCTTTGCTACATTTGCTAGTTTCATGGAAAGTGATGCATCC       c.1500
 I  V  Y  R  L  S  V  F  A  T  F  A  S  F  M  E  S  D  A  S         p.500

          .         .         .         .         .         .       g.71496
 TTAAAGCAGGTCAAAAGCTTCCTTACTCCTCAGATAACCACATCACTCACAGGATCATGC       c.1560
 L  K  Q  V  K  S  F  L  T  P  Q  I  T  T  S  L  T  G  S  C         p.520

          .         .         .         .         .         .       g.71556
 TTGAACTTTATTGTCATCTTGATCTTGAATTTCTTTTATGAAAAGATATCTGCCTGGATC       c.1620
 L  N  F  I  V  I  L  I  L  N  F  F  Y  E  K  I  S  A  W  I         p.540

          . | 16       .         .         .         .         .    g.74003
 ACAAAAATGG | AAATTCCTCGAACATACCAGGAGTATGAGAGCAGTCTTACCTTGAAAATG    c.1680
 T  K  M  E |   I  P  R  T  Y  Q  E  Y  E  S  S  L  T  L  K  M      p.560

          .         .         .         .         .         .       g.74063
 TTCCTGTTTCAGTTTGTAAATTTTTACTCATCCTGCTTCTACGTAGCTTTCTTTAAAGGG       c.1740
 F  L  F  Q  F  V  N  F  Y  S  S  C  F  Y  V  A  F  F  K  G         p.580

          .         .         .         .         .         .       g.74123
 AAGTTCGTAGGCTATCCTGGAAAATACACATATTTATTTAATGAGTGGAGAAGTGAAGAG       c.1800
 K  F  V  G  Y  P  G  K  Y  T  Y  L  F  N  E  W  R  S  E  E         p.600

  | 17       .         .         .         .         .         .    g.74830
  | TGTGATCCTGGAGGCTGTCTTATAGAATTGACAACCCAATTGACCATTATAATGACCGGG    c.1860
  | C  D  P  G  G  C  L  I  E  L  T  T  Q  L  T  I  I  M  T  G      p.620

          .         .         .         | 18         .         .    g.82158
 AAACAGATTTTTGGAAACATTAAAGAAGCCATTTATCC | CTTGGCTTTGAATTGGTGGAGA    c.1920
 K  Q  I  F  G  N  I  K  E  A  I  Y  P  |  L  A  L  N  W  W  R      p.640

          .         .         .         .         .         .       g.82218
 CGCCGAAAAGCTCGGACAAACTCTGAGAAGCTGTATAGTCGATGGGAGCAGGATCATGAC       c.1980
 R  R  K  A  R  T  N  S  E  K  L  Y  S  R  W  E  Q  D  H  D         p.660

          .         .         .         .          | 19        .    g.84619
 CTTGAAAGTTTTGGACCCCTTGGGCTTTTCTATGAGTACTTAGAAACAG | TTACTCAATTT    c.2040
 L  E  S  F  G  P  L  G  L  F  Y  E  Y  L  E  T  V |   T  Q  F      p.680

          .         .         .         .         .         .       g.84679
 GGATTTGTTACACTATTTGTGGCCTCTTTTCCTTTGGCTCCTCTTCTTGCTCTCATAAAT       c.2100
 G  F  V  T  L  F  V  A  S  F  P  L  A  P  L  L  A  L  I  N         p.700

          .         .         .         .         .         .       g.84739
 AATATTGTAGAGATTCGAGTGGATGCCTGGAAACTTACCACTCAATACAGGAGAACTGTA       c.2160
 N  I  V  E  I  R  V  D  A  W  K  L  T  T  Q  Y  R  R  T  V         p.720

          .         .         .         .         .         .       g.84799
 GCTTCTAAAGCTCATAGCATAGGTGTTTGGCAAGACATTCTTTATGGAATGGCTGTCCTT       c.2220
 A  S  K  A  H  S  I  G  V  W  Q  D  I  L  Y  G  M  A  V  L         p.740

          .      | 20  .         .         .         .         .    g.86438
 TCTGTTGCAACTAAT | GCCTTTATTGTTGCATTTACGTCAGACATCATTCCCCGTCTAGTT    c.2280
 S  V  A  T  N   | A  F  I  V  A  F  T  S  D  I  I  P  R  L  V      p.760

          .         .         .         .         .         .       g.86498
 TACTACTATGCTTACTCAACAAATGCCACACAGCCTATGACAGGATATGTGAATAATAGC       c.2340
 Y  Y  Y  A  Y  S  T  N  A  T  Q  P  M  T  G  Y  V  N  N  S         p.780

          .         .         .         .         .         .       g.86558
 CTGTCAGTATTCCTGATAGCTGATTTTCCAAACCACACTGCACCTTCGGAAAAACGAGAC       c.2400
 L  S  V  F  L  I  A  D  F  P  N  H  T  A  P  S  E  K  R  D         p.800

          .     | 21   .         .         .         .         .    g.87964
 TTCATCACTTGCAG | GTACAGAGATTACAGATATCCTCCTGATGACGAGAATAAATATTTT    c.2460
 F  I  T  C  R  |  Y  R  D  Y  R  Y  P  P  D  D  E  N  K  Y  F      p.820

          .         .         .         .         .         .       g.88024
 CATAATATGCAATTCTGGCATGTCCTTGCTGCCAAGATGACCTTCATCATTGTTATGGAA       c.2520
 H  N  M  Q  F  W  H  V  L  A  A  K  M  T  F  I  I  V  M  E         p.840

  | 22       .         .         .         .         .         .    g.91428
  | CATGTTGTGTTTTTAGTTAAATTTTTGCTGGCCTGGATGATACCTGATGTTCCAAAAGAT    c.2580
  | H  V  V  F  L  V  K  F  L  L  A  W  M  I  P  D  V  P  K  D      p.860

          .         .         .         .         .         .       g.91488
 GTTGTGGAGAGAATCAAGAGAGAAAAGTTAATGACTATCAAGATTCTCCATGATTTTGAG       c.2640
 V  V  E  R  I  K  R  E  K  L  M  T  I  K  I  L  H  D  F  E         p.880

          .         .         .         .         .         .       g.91548
 CTCAACAAATTAAAAGAGAACTTGGGAATTAATTCTAATGAATTTGCCAAGCATGTCATG       c.2700
 L  N  K  L  K  E  N  L  G  I  N  S  N  E  F  A  K  H  V  M         p.900

          .         .         .         .                           g.91590
 ATTGAGGAAAACAAAGCACAGCTGGCTAAATCAACACTCTAA                         c.2742
 I  E  E  N  K  A  Q  L  A  K  S  T  L  X                           p.913

          .         .         .         .         .         .       g.91650
 tcagtatagtgaggaagcagcaggtgatctgccttacttcactttatcctctggttttag       c.*60

          .         .         .         .         .         .       g.91710
 ggccagacgccagaagccatgtgtcaattttaccctttcttttttttttttttctttttt       c.*120

          .         .         .         .         .         .       g.91770
 tttttaaactcaaagtttttatacacttttatagaggccaactttgtgatgttggaaatg       c.*180

          .         .         .         .         .         .       g.91830
 tactacttctctgcttcattgactgggccctctccagatgttgttttctgaggtgctgta       c.*240

          .         .         .         .         .         .       g.91890
 aatgactgttgaaagtgcaggtagaatcagaatactgggaaattatggagtcttgcagtt       c.*300

          .         .         .         .         .         .       g.91950
 tagtaagaaacactggccttgggctgtcccatcactttccagtgcatctatttatttttg       c.*360

          .         .         .         .         .         .       g.92010
 tggtcttctcttgggttatttgatacctccttccccattaagaaaaatgttggggcaaaa       c.*420

          .         .         .         .         .         .       g.92070
 agaaatggatcaaagagactgactgagccctatatatcctatcattttaaaatatgcaaa       c.*480

          .         .         .         .         .         .       g.92130
 tgaattgccaagatcagatgacataagaaaactcacacattaaggtgttaatgtatcata       c.*540

          .         .         .         .         .         .       g.92190
 gcagaggtttattcctaacacattcaactaccatcagaatcccagatagttcttcctggt       c.*600

          .         .         .         .         .         .       g.92250
 aaaggcagaattccttttctcgagactgaaattttgggtttcaacataaaacaacttggt       c.*660

          .         .         .         .         .         .       g.92310
 tcttagagataataatttggttataatagtttcaagactgatcttatctggaaagcaaca       c.*720

          .         .         .         .         .         .       g.92370
 ttatgaagctgttagattgcttcaggttctcaagcaaagacacaatacagaagtaaatgt       c.*780

          .         .         .         .         .         .       g.92430
 gttttcttagtagttaatggatgcaggacaatgtatattgattaatttgttgattttaat       c.*840

          .         .         .         .         .         .       g.92490
 ttagaaaattgttaaattatttcttaaaaatcacttttcttctggaatgccaatttcaca       c.*900

          .         .         .         .         .         .       g.92550
 tcatgaagcctttttgtataagttagatacgagttgtttatgataaacatttctttgctt       c.*960

          .         .         .         .         .         .       g.92610
 taaaataattgcaaatattttaataagtttacaaccttttctattgatgtatcatcttat       c.*1020

          .         .         .         .         .         .       g.92670
 acaatgctcagtgccttgttccaatacctctgacacacaagaagtcatgttgttagctag       c.*1080

          .         .         .         .         .         .       g.92730
 tgatttgatgtgatgtaacatcttaaatgtaagcttgtcttaatgaaattgtcagtgtaa       c.*1140

          .         .         .         .         .         .       g.92790
 taacaactacagtcttgaaaaccaaaagtgaatcaaccaactaagaatgagttcatggac       c.*1200

          .         .         .         .         .         .       g.92850
 ttaataatctaagggggaaaaaatgtttgttgaattattcctctcaaatttaggcttgtg       c.*1260

          .         .         .         .         .         .       g.92910
 ttacatgcacaaaaatccttgttctgttttcacttaaaaaaactaaatatgtataacttt       c.*1320

          .         .         .         .         .         .       g.92970
 gtgtatacacacacacacatctatatatataattattagcactagagggatatagtccag       c.*1380

          .         .         .         .         .         .       g.93030
 ttatgtagtatttaaatctccagtttcaaattataattcacctccaaaagaatagttttt       c.*1440

          .         .         .         .         .         .       g.93090
 taatcacacacataagaaattttatcacaatatttaaaactaatatttcattatctaatg       c.*1500

          .         .         .         .         .         .       g.93150
 ctaataaattattgtggtactgccagtattaaatatatggcagatggtattaactactga       c.*1560

          .         .         .         .         .         .       g.93210
 tcaatagtaagcatacagaactggggattatggattttataaactatgagacagtcaccc       c.*1620

          .         .         .         .         .         .       g.93270
 cagtttggactgggactaatccccagtactgatttgtcatccactgagtagactttatga       c.*1680

          .         .         .         .         .         .       g.93330
 atattttgggtaatttgaaatgatctcattattgaaagatgatttcatatgtagagaaga       c.*1740

          .         .         .         .         .         .       g.93390
 taatatttctttcttgaaaaaacaagtcaggcttaccatgatgtgtgcaaccaatgtagg       c.*1800

          .         .         .         .         .         .       g.93450
 atctttggcttgtcaaatcagattctccattgctatagtgtacagtgcacacagctcata       c.*1860

          .         .         .         .         .         .       g.93510
 ttgcttccttcctgggtgctgataaaaataagaaagagcatggaaattggtttcttgaat       c.*1920

          .         .         .         .         .         .       g.93570
 ataagctttaatttttaaggcttaaaagtattcatagaggtagactgtatgataaataaa       c.*1980

          .         .         .         .         .         .       g.93630
 aacaaatttaattcacaaagttatctgtacactgcagttttaaaatataccaactaaatt       c.*2040

          .         .         .         .         .         .       g.93690
 attgggtttctggaagtgaatggagaaaacagcaagggaagaaatcgtttttaagataag       c.*2100

          .         .         .         .         .         .       g.93750
 taaataattcccatggattgataaatattttccttttaaaatgttatggactgatatttt       c.*2160

          .         .         .         .         .         .       g.93810
 ttattcacctttaaatttcttatcaagaagtttatctttgtttttcagatttaaaaatga       c.*2220

          .         .         .         .         .         .       g.93870
 aatacaggtattcgtcactttcctgaaaccatgctaaccaaaatcagtagccaaaccaat       c.*2280

          .         .         .         .         .         .       g.93930
 tcagatagatgtgtctcatctaattaaacccattggtttttatgggagggctgcattaag       c.*2340

          .         .         .         .         .         .       g.93990
 agcacccaaccaccacatgtaagttgataattaccagcatggcaggtgattttatctgct       c.*2400

          .         .         .         .         .         .       g.94050
 gaccaagcgcatagttttgttttgttttcagaatgttctagggaacatttgagattttat       c.*2460

          .         .         .         .         .         .       g.94110
 gtgaaataaaattttaagtgccaaagccaaaaaaatacttaactcttttcaaaggccctc       c.*2520

          .         .         .         .         .         .       g.94170
 tttcatccttgccttcgtcaactttcctttgcacacaggaagcaaaatctacttcaagac       c.*2580

          .         .         .         .         .         .       g.94230
 atttattttagaggaatccattaagaaaggattgttttacttaaatgaaatgctgtctta       c.*2640

          .         .         .         .         .         .       g.94290
 tttttgctgtgtcttttgacacctcttagctttaacattcttcttttaaccaagccatta       c.*2700

          .         .         .         .         .         .       g.94350
 tgcaaagttatcaaagaagaggagaaggaaaggaggacagatgaaagtgacgggaaatga       c.*2760

          .         .         .         .         .         .       g.94410
 gaaagaagaggagtgaggaaacagttatttccttatgaatcctgtgtgtttctttggaag       c.*2820

          .         .         .         .         .         .       g.94470
 aaagagctgttccgaggaagtttggtccagctgtggttgataagaggtatatctcttaaa       c.*2880

          .         .         .         .         .         .       g.94530
 aaagacacctaatgaaagtgagagaaaagctaaagaaaatttcaatgtgaccactattat       c.*2940

          .         .         .         .         .         .       g.94590
 gtgtcaaaataaaacttagattccaaagtggttttgtagtgttgggtgctatgagtaggt       c.*3000

          .         .         .         .         .         .       g.94650
 atggatctctgttgattgactccagttgaaggtgagaaatctgtaccaatcattcaaaaa       c.*3060

          .         .         .         .         .         .       g.94710
 gggaatctattgttttgaaagaaactctctcatatttcctttaaattgttaatagttgtt       c.*3120

          .         .         .         .         .         .       g.94770
 atgcaactaaagaatgttatgaagaaaaatagcattgcaaaaagtaccattggccagcct       c.*3180

          .         .         .         .         .         .       g.94830
 tacaagtcagccacaatgagtcggtataactactgtgttattctttttctagacaaattt       c.*3240

          .         .         .         .         .         .       g.94890
 tgactcttctacttttatgtgtaataattccagtattctatttatttcagcattatgtga       c.*3300

          .         .         .         .         .         .       g.94950
 aaaatgataagaatgttaaaaagaaaataatagtgtggtttaattggtatgagatacctg       c.*3360

          .         .         .         .         .         .       g.95010
 cttcctcctcctcaaaggtttgactgggtgtatctctcctatgtgtgacattatgtctcc       c.*3420

          .         .         .         .         .         .       g.95070
 tggtgttaacacaggaaatgagtgctcctttttaaaatttctttcttccaagtttttttt       c.*3480

          .         .         .         .         .         .       g.95130
 tccaggaagagaaatatgcagttatgcaggaaaagctctcttaaataatgtgtacataaa       c.*3540

          .         .         .         .         .         .       g.95190
 tctcaagagaatcaaattcacagagtgaataaagtaataatattaaactacattttgaca       c.*3600

                                                                    g.95192
 tg                                                                 c.*3602

 (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 10th nucleotide is indicated by a "." above the sequence. The Anoctamin 5 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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