cytochrome b-245, beta polypeptide (CYBB) - coding DNA reference sequence

(used for mutation description)

(last modified April 30, 2014)


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

The sequence was taken from NC_000023.10, covering CYBB transcript NM_000397.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.1001
                                                            a       c.-61

 .         .         .         .         .         .                g.1061
 ttggaagaagaagcatagtatagaagaaaggcaaacacaacacattcaacctctgccacc       c.-1

          .         .         .         .      | 02  .         .    g.3086
 ATGGGGAACTGGGCTGTGAATGAGGGGCTCTCCATTTTTGTCATT | CTGGTTTGGCTGGGG    c.60
 M  G  N  W  A  V  N  E  G  L  S  I  F  V  I   | L  V  W  L  G      p.20

          .         .         .         .         .         .       g.3146
 TTGAACGTCTTCCTCTTTGTCTGGTATTACCGGGTTTATGATATTCCACCTAAGTTCTTT       c.120
 L  N  V  F  L  F  V  W  Y  Y  R  V  Y  D  I  P  P  K  F  F         p.40

          .         .  | 03      .         .         .         .    g.4512
 TACACAAGAAAACTTCTTGGG | TCAGCACTGGCACTGGCCAGGGCCCCTGCAGCCTGCCTG    c.180
 Y  T  R  K  L  L  G   | S  A  L  A  L  A  R  A  P  A  A  C  L      p.60

          .         .         .         .         .         .       g.4572
 AATTTCAACTGCATGCTGATTCTCTTGCCAGTCTGTCGAAATCTGCTGTCCTTCCTCAGG       c.240
 N  F  N  C  M  L  I  L  L  P  V  C  R  N  L  L  S  F  L  R         p.80

          .   | 04     .         .         .         .         .    g.13006
 GGTTCCAGTGCG | TGCTGCTCAACAAGAGTTCGAAGACAACTGGACAGGAATCTCACCTTT    c.300
 G  S  S  A   | C  C  S  T  R  V  R  R  Q  L  D  R  N  L  T  F      p.100

          .         .         .        | 05.         .         .    g.14671
 CATAAAATGGTGGCATGGATGATTGCACTTCACTCTG | CGATTCACACCATTGCACATCTA    c.360
 H  K  M  V  A  W  M  I  A  L  H  S  A |   I  H  T  I  A  H  L      p.120

          .         .         .         .         .         .       g.14731
 TTTAATGTGGAATGGTGTGTGAATGCCCGAGTCAATAATTCTGATCCTTATTCAGTAGCA       c.420
 F  N  V  E  W  C  V  N  A  R  V  N  N  S  D  P  Y  S  V  A         p.140

          .         .         .         .         .         .       g.14791
 CTCTCTGAACTTGGAGACAGGCAAAATGAAAGTTATCTCAATTTTGCTCGAAAGAGAATA       c.480
 L  S  E  L  G  D  R  Q  N  E  S  Y  L  N  F  A  R  K  R  I         p.160

     | 06    .         .         .         .         .         .    g.16991
 AAG | AACCCTGAAGGAGGCCTGTACCTGGCTGTGACCCTGTTGGCAGGCATCACTGGAGTT    c.540
 K   | N  P  E  G  G  L  Y  L  A  V  T  L  L  A  G  I  T  G  V      p.180

          .         .         .         .         .         .       g.17051
 GTCATCACGCTGTGCCTCATATTAATTATCACTTCCTCCACCAAAACCATCCGGAGGTCT       c.600
 V  I  T  L  C  L  I  L  I  I  T  S  S  T  K  T  I  R  R  S         p.200

          .         .         .         .         .         .       g.17111
 TACTTTGAAGTCTTTTGGTACACACATCATCTCTTTGTGATCTTCTTCATTGGCCTTGCC       c.660
 Y  F  E  V  F  W  Y  T  H  H  L  F  V  I  F  F  I  G  L  A         p.220

          .     | 07   .         .         .         .         .    g.19984
 ATCCATGGAGCTGA | ACGAATTGTACGTGGGCAGACCGCAGAGAGTTTGGCTGTGCATAAT    c.720
 I  H  G  A  E  |  R  I  V  R  G  Q  T  A  E  S  L  A  V  H  N      p.240

          .         .         .         .         .         .       g.20044
 ATAACAGTTTGTGAACAAAAAATCTCAGAATGGGGAAAAATAAAGGAATGCCCAATCCCT       c.780
 I  T  V  C  E  Q  K  I  S  E  W  G  K  I  K  E  C  P  I  P         p.260

          .         .     | 08   .         .         .         .    g.22275
 CAGTTTGCTGGAAACCCTCCTATG | ACTTGGAAATGGATAGTGGGTCCCATGTTTCTGTAT    c.840
 Q  F  A  G  N  P  P  M   | T  W  K  W  I  V  G  P  M  F  L  Y      p.280

          .         .         .         .         .        | 09.    g.24863
 CTCTGTGAGAGGTTGGTGCGGTTTTGGCGATCTCAACAGAAGGTGGTCATCACCAAG | GTG    c.900
 L  C  E  R  L  V  R  F  W  R  S  Q  Q  K  V  V  I  T  K   | V      p.300

          .         .         .         .         .         .       g.24923
 GTCACTCACCCTTTCAAAACCATCGAGCTACAGATGAAGAAGAAGGGGTTCAAAATGGAA       c.960
 V  T  H  P  F  K  T  I  E  L  Q  M  K  K  K  G  F  K  M  E         p.320

          .         .         .         .         .         .       g.24983
 GTGGGACAATACATTTTTGTCAAGTGCCCAAAGGTGTCCAAGCTGGAGTGGCACCCTTTT       c.1020
 V  G  Q  Y  I  F  V  K  C  P  K  V  S  K  L  E  W  H  P  F         p.340

          .         .         .         .         .         .       g.25043
 ACACTGACATCCGCCCCTGAGGAAGACTTCTTTAGTATCCATATCCGCATCGTTGGGGAC       c.1080
 T  L  T  S  A  P  E  E  D  F  F  S  I  H  I  R  I  V  G  D         p.360

          .         .         .         .         .         .       g.25103
 TGGACAGAGGGGCTGTTCAATGCTTGTGGCTGTGATAAGCAGGAGTTTCAAGATGCGTGG       c.1140
 W  T  E  G  L  F  N  A  C  G  C  D  K  Q  E  F  Q  D  A  W         p.380

          .  | 10      .         .         .         .         .    g.26038
 AAACTACCTAA | GATAGCGGTTGATGGGCCCTTTGGCACTGCCAGTGAAGATGTGTTCAGC    c.1200
 K  L  P  K  |  I  A  V  D  G  P  F  G  T  A  S  E  D  V  F  S      p.400

          .         .         .         .         .         .       g.26098
 TATGAGGTGGTGATGTTAGTGGGAGCAGGGATTGGGGTCACACCCTTCGCATCCATTCTC       c.1260
 Y  E  V  V  M  L  V  G  A  G  I  G  V  T  P  F  A  S  I  L         p.420

          .         .         .         .         .     | 11   .    g.27376
 AAGTCAGTCTGGTACAAATATTGCAATAACGCCACCAATCTGAAGCTCAAAAAG | ATCTAC    c.1320
 K  S  V  W  Y  K  Y  C  N  N  A  T  N  L  K  L  K  K   | I  Y      p.440

          .         .         .         .         .         .       g.27436
 TTCTACTGGCTGTGCCGGGACACACATGCCTTTGAGTGGTTTGCAGATCTGCTGCAACTG       c.1380
 F  Y  W  L  C  R  D  T  H  A  F  E  W  F  A  D  L  L  Q  L         p.460

          .         .         .         .         .         .       g.27496
 CTGGAGAGCCAGATGCAGGAAAGGAACAATGCCGGCTTCCTCAGCTACAACATCTACCTC       c.1440
 L  E  S  Q  M  Q  E  R  N  N  A  G  F  L  S  Y  N  I  Y  L         p.480

          .         .  | 12      .         .         .         .    g.30589
 ACTGGCTGGGATGAGTCTCAG | GCCAATCACTTTGCTGTGCACCATGATGAGGAGAAAGAT    c.1500
 T  G  W  D  E  S  Q   | A  N  H  F  A  V  H  H  D  E  E  K  D      p.500

          .         .         .         .         .         .       g.30649
 GTGATCACAGGCCTGAAACAAAAGACTTTGTATGGACGGCCCAACTGGGATAATGAATTC       c.1560
 V  I  T  G  L  K  Q  K  T  L  Y  G  R  P  N  W  D  N  E  F         p.520

          .         .       | 13 .         .         .         .    g.31808
 AAGACAATTGCAAGTCAACACCCTAA | TACCAGAATAGGAGTTTTCCTCTGTGGACCTGAA    c.1620
 K  T  I  A  S  Q  H  P  N  |  T  R  I  G  V  F  L  C  G  P  E      p.540

          .         .         .         .         .         .       g.31868
 GCCTTGGCTGAAACCCTGAGTAAACAAAGCATCTCCAACTCTGAGTCTGGCCCTCGGGGA       c.1680
 A  L  A  E  T  L  S  K  Q  S  I  S  N  S  E  S  G  P  R  G         p.560

          .         .         .                                     g.31901
 GTGCATTTCATTTTCAACAAGGAAAACTTCTAA                                  c.1713
 V  H  F  I  F  N  K  E  N  F  X                                    p.570

          .         .         .         .         .         .       g.31961
 cttgtctcttccatgaggaaataaatgtgggttgtgctgccaaatgctcaaataatgcta       c.*60

          .         .         .         .         .         .       g.32021
 attgataatataaataccccctgcttaaaaatggacaaaaagaaactataatgtaatggt       c.*120

          .         .         .         .         .         .       g.32081
 tttcccttaaaggaatgtcaaagattgtttgatagtgataagttacatttatgtggagct       c.*180

          .         .         .         .         .         .       g.32141
 ctatggttttgagagcacttttacaaacattatttcatttttttcctctcagtaatgtca       c.*240

          .         .         .         .         .         .       g.32201
 gtggaagttagggaaaagattcttggactcaattttagaatcaaaagggaaaggatcaaa       c.*300

          .         .         .         .         .         .       g.32261
 aggttcagtaacttccctaagattatgaaactgtgaccagatctagcccatcttactcca       c.*360

          .         .         .         .         .         .       g.32321
 ggtttgatactctttccacaatactgagctgcctcagaatcctcaaaatcagtttttata       c.*420

          .         .         .         .         .         .       g.32381
 ttccccaaaagaagaaggaaaccaaggagtagctatatatttctactttgtgtcattttt       c.*480

          .         .         .         .         .         .       g.32441
 gccatcattattatcatactgaaggaaattttccagatcattaggacataatacatgttg       c.*540

          .         .         .         .         .         .       g.32501
 agagtgtctcaacacttattagtgacagtattgacatctgagcatactccagtttactaa       c.*600

          .         .         .         .         .         .       g.32561
 tacagcagggtaactgggccagatgttctttctacagaagaatattggattgattggagt       c.*660

          .         .         .         .         .         .       g.32621
 taatgtaatactcatcatttaccactgtgcttggcagagagcggatactcaagtaagttt       c.*720

          .         .         .         .         .         .       g.32681
 tgttaaatgaatgaatgaatttagaaccacacaatgccaagatagaattaatttaaagcc       c.*780

          .         .         .         .         .         .       g.32741
 ttaaacaaaatttatctaaagaaataacttctattactgtcatagaccaaaggaatctga       c.*840

          .         .         .         .         .         .       g.32801
 ttctccctagggtcaagaacaggctaaggatactaaccaataggattgcctgaagggttc       c.*900

          .         .         .         .         .         .       g.32861
 tgcacattcttatttgaagcatgaaaaaagagggttggaggtggagaattaacctcctgc       c.*960

          .         .         .         .         .         .       g.32921
 catgactctggctcatctagtcctgctccttgtgctataaaataaatgcagactaatttc       c.*1020

          .         .         .         .         .         .       g.32981
 ctgcccaaagtggtcttctccagctagcccttatgaatattgaacttaggaattgtgaca       c.*1080

          .         .         .         .         .         .       g.33041
 aatatgtatctgatatggtcatttgttttaaataacacccaccccttattttccgtaaat       c.*1140

          .         .         .         .         .         .       g.33101
 acacacacaaaatggatcgcatctgtgtgactaatggtttatttgtattatatcatcatc       c.*1200

          .         .         .         .         .         .       g.33161
 atcatcctaaaattaacaacccagaaacaaaaatctctatacagagatcaaattcacact       c.*1260

          .         .         .         .         .         .       g.33221
 caatagtatgttctgaatatatgttcaagagagagtctctaaatcactgttagtgtggcc       c.*1320

          .         .         .         .         .         .       g.33281
 aagagcagggttttctttttgttcttagaactgctcccatttctgggaactaaaaccagt       c.*1380

          .         .         .         .         .         .       g.33341
 tttatttgccccaccccttggagccacaaatgtttagaactcttcaacttcggtaatgag       c.*1440

          .         .         .         .         .         .       g.33401
 gaagaaggagaaagagctgggggaagggcagaagactggtttaggaggaaaaggaaataa       c.*1500

          .         .         .         .         .         .       g.33461
 ggagaaaagagaatgggagagtgagagaaaataaaaaaggcaaaagggagagagagggga       c.*1560

          .         .         .         .         .         .       g.33521
 agggggtctcatattggtcattccctgccccagatttcttaaagtttgatatgtatagaa       c.*1620

          .         .         .         .         .         .       g.33581
 tataattgaaggaggtatacacatattgatgttgttttgattatctatggtattgaatct       c.*1680

          .         .         .         .         .         .       g.33641
 tttaaaatctggtcacaaattttgatgctgagggggattattcaagggactaggatgaac       c.*1740

          .         .         .         .         .         .       g.33701
 taaataagaactcagttgttctttgtcatactactattcctttcgtctcccagaatcctc       c.*1800

          .         .         .         .         .         .       g.33761
 agggcactgagggtaggtctgacaaataaggcctgctgtgcgaatatagcctttctgaaa       c.*1860

          .         .         .         .         .         .       g.33821
 tgtaccaggatggtttctgcttagagacacttaggtccagcctgttcacactgcacctca       c.*1920

          .         .         .         .         .         .       g.33881
 ggtatcaattcatctattcaacagatatttattgtgttattactatgagtcaggctctgt       c.*1980

          .         .         .         .         .         .       g.33941
 ttattgtttcaattctttacaccaaagtatgaactggagagggtacctcagttataagga       c.*2040

          .         .         .         .         .         .       g.34001
 gtctgagaatattggccctttctaacctatgtgcataattaaaaccagcttcatttgttg       c.*2100

          .         .         .         .         .         .       g.34061
 ctccgagagtgtttctccaaggttttctatcttcaaaaccaactaagttatgaaagtaga       c.*2160

          .         .         .         .         .         .       g.34121
 gagatctgccctgtgttatccagttatgagataaaaaatgaatataagagtgcttgtcat       c.*2220

          .         .         .         .         .         .       g.34181
 tataaaagtttccttttttattctctcaagccaccagctgccagccaccagcagccagct       c.*2280

          .         .         .         .         .         .       g.34241
 gccagcctagctttttttttttttttttttttttagcacttagtatttagcatttattaa       c.*2340

          .         .         .         .         .         .       g.34301
 caggtactctaagaatgatgaagcattgtttttaatcttaagactatgaaggtttttctt       c.*2400

          .         .         .         .         .         .       g.34361
 agttcttctgcttttgcaattgtgtttgtgaaatttgaatacttgcaggctttgtatgtg       c.*2460

          .         .         .         .         .         .       g.34421
 aataattctagcgggggacctgggagataattcctacggggaattcttaaaactgtgctc       c.*2520

          .         .                                               g.34445
 aactattaaaatgaatgagctttc                                           c.*2544

 (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 Cytochrome b-245, beta polypeptide 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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