cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22) - coding DNA reference sequence

(used for variant description)

(last modified May 4, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_001010969.2 in the CYP4A22 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007937.1, covering CYP4A22 transcript NM_001010969.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5051
          gggtggtcagagagaggaaggggcactcagagatccagcaggtgctgcacc       c.-1

          .         .         .         .         .         .       g.5111
 ATGAGTGTCTCTGTCCTGAGCCCCAGCAGACGCCTGGGTGGTGTCTCCGGGATCCTCCAA       c.60
 M  S  V  S  V  L  S  P  S  R  R  L  G  G  V  S  G  I  L  Q         p.20

          .         .         .         .         .         .       g.5171
 GTGACCTCCCTGCTCATTCTGCTTCTGCTGCTGATCAAGGCAGCTCAGCTCTACCTGCAT       c.120
 V  T  S  L  L  I  L  L  L  L  L  I  K  A  A  Q  L  Y  L  H         p.40

          .         .         .         .         .         .       g.5231
 AGGCAGTGGCTGCTCAAAGCCCTCCAGCAGTTCCCGTGCCCTCCCTCCCACTGGCTCTTC       c.180
 R  Q  W  L  L  K  A  L  Q  Q  F  P  C  P  P  S  H  W  L  F         p.60

          .      | 02  .         .         .         .         .    g.8390
 GGGCACATCCAGGAG | TTCCAACACGACCAGGAGCTACAACGGATTCAGGAACGGGTGAAG    c.240
 G  H  I  Q  E   | F  Q  H  D  Q  E  L  Q  R  I  Q  E  R  V  K      p.80

          .         .         .         .         .         .       g.8450
 ACATTCCCAAGTGCCTGTCCTTATTGGATATGGGGAGGCAAAGTTCGTGTCCAGCTCTAT       c.300
 T  F  P  S  A  C  P  Y  W  I  W  G  G  K  V  R  V  Q  L  Y         p.100

          .         .         .        | 03.         .         .    g.9159
 GACCCTGACTATATGAAGGTGATTCTGGGGAGATCAG | ACCCGAAATCCCATGGATCCTAC    c.360
 D  P  D  Y  M  K  V  I  L  G  R  S  D |   P  K  S  H  G  S  Y      p.120

          .         .   | 04     .         .         .         .    g.9711
 AAATTCCTGGCTCCACGGATTG | GGTACGGCTTGCTCCTGTTGAATGGGCAGACATGGTTC    c.420
 K  F  L  A  P  R  I  G |   Y  G  L  L  L  L  N  G  Q  T  W  F      p.140

          .         .         .         .         .         .       g.9771
 CAGCATCGACGGATGCTGACCCCAGCCTTCCACAATGACATCCTGAAGCCATACGTGGGG       c.480
 Q  H  R  R  M  L  T  P  A  F  H  N  D  I  L  K  P  Y  V  G         p.160

          .         .         . | 05       .         .         .    g.10864
 CTCATGGCAGACTCTGTACGAGTGATGCTG | GACAAATGGGAAGAGCTCCTTGGCCAGGAT    c.540
 L  M  A  D  S  V  R  V  M  L   | D  K  W  E  E  L  L  G  Q  D      p.180

          .         .         .         .         .         .       g.10924
 TCCCCTCTGGAGGTCTTTCAGCACGTCTCCTTGATGACCCTGGACACCATCATGAAGAGT       c.600
 S  P  L  E  V  F  Q  H  V  S  L  M  T  L  D  T  I  M  K  S         p.200

          .         .         .      | 06  .         .         .    g.11352
 GCCTTCAGCCATCAGGGCAGCATCCAGGTGGACAG | GAATTCTCAGTCCTACATCCAGGCC    c.660
 A  F  S  H  Q  G  S  I  Q  V  D  R  |  N  S  Q  S  Y  I  Q  A      p.220

          .         .         .         .         .         .       g.11412
 ATTAGTGACCTGAACAGCCTGGTTTTTTGCTGTATGAGGAATGCCTTTCATGAGAATGAC       c.720
 I  S  D  L  N  S  L  V  F  C  C  M  R  N  A  F  H  E  N  D         p.240

          .         .         .         .         .         .       g.11472
 ACCATCTACAGCCTGACCTCTGCTGGCCGCTGGACACACCGCGCCTGCCAGCTGGCCCAT       c.780
 T  I  Y  S  L  T  S  A  G  R  W  T  H  R  A  C  Q  L  A  H         p.260

          . | 07       .         .         .         .         .    g.11972
 CAGCACACAG | ACCAAGTGATCCAACTGAGGAAGGCTCAACTACAGAAGGAGGGGGAGCTG    c.840
 Q  H  T  D |   Q  V  I  Q  L  R  K  A  Q  L  Q  K  E  G  E  L      p.280

          .         .         .         .         .        | 08.    g.12118
 GAGAAGATCAAGAGGAAGAGGCACTTGGATTTTCTGGACATCCTCCTCTTGGCCAAA | ATG    c.900
 E  K  I  K  R  K  R  H  L  D  F  L  D  I  L  L  L  A  K   | M      p.300

          .         .         .         .         .         .       g.12178
 GAGAATGGGAGCATCTTGTCAGACAAGGACCTCCGTGCTGAGGTGGACACGTTCATGTTT       c.960
 E  N  G  S  I  L  S  D  K  D  L  R  A  E  V  D  T  F  M  F         p.320

          .         .         .         .         .         .       g.12238
 GAGGGCCACGACACCACAGCCAGTGGGATCTCCTGGATCCTCTATGCTCTGGCCACACAC       c.1020
 E  G  H  D  T  T  A  S  G  I  S  W  I  L  Y  A  L  A  T  H         p.340

          .         .         .         .         .         .       g.12298
 CCCAAGCATCAGGAGAGGTGCCGGGAGGAGATCCATGGCCTCCTGGGTGATGGAGCCTCC       c.1080
 P  K  H  Q  E  R  C  R  E  E  I  H  G  L  L  G  D  G  A  S         p.360

          | 09         .         .         .         .         .    g.12454
 ATCACCTG | GAACCACCTGGACCAGATGCCCTACACCACCATGTGCATTAAGGAGGCACTG    c.1140
 I  T  W  |  N  H  L  D  Q  M  P  Y  T  T  M  C  I  K  E  A  L      p.380

          .         .         .         .         .         .       g.12514
 AGGCTCTACCCACCGGTGCCAGGCATTGGAAGAGAGCTCAGCACTCCCGTCACCTTCCCT       c.1200
 R  L  Y  P  P  V  P  G  I  G  R  E  L  S  T  P  V  T  F  P         p.400

          .         .   | 10     .         .         .         .    g.13469
 GATGGGCGCTCCTTGCCCAAAG | GTATCATGGTCCTCCTCTCCATTTATGGCCTTCACCAC    c.1260
 D  G  R  S  L  P  K  G |   I  M  V  L  L  S  I  Y  G  L  H  H      p.420

          .         .        | 11.         .         .         .    g.13675
 AACCCAAAAGTGTGGCCCAACCTAGAG | GTGTTTGACCCTTCCCGTTTTGCACCGGGTTCT    c.1320
 N  P  K  V  W  P  N  L  E   | V  F  D  P  S  R  F  A  P  G  S      p.440

          .         .         .         .     | 12   .         .    g.16183
 GCTCAACACAGCCACGCTTTCCTGCCCTTCTCAGGAGGATCAAG | GAACTGCATCGGGAAA    c.1380
 A  Q  H  S  H  A  F  L  P  F  S  G  G  S  R  |  N  C  I  G  K      p.460

          .         .         .         .         .         .       g.16243
 CAATTTGCCATGAACCAGCTGAAGGTGGCCAGGGCCCTGACCCTGCTCCGCTTTGAGCTG       c.1440
 Q  F  A  M  N  Q  L  K  V  A  R  A  L  T  L  L  R  F  E  L         p.480

          .         .         .         .         .         .       g.16303
 CTGCCTGATCCCACCAGGATCCCCATCCCCATGGCACGACTTGTGTTGAAATCCAAAAAT       c.1500
 L  P  D  P  T  R  I  P  I  P  M  A  R  L  V  L  K  S  K  N         p.500

          .         .         .         .         .         .       g.16363
 GGAATCCACCTGCGTCTCAGGAGGCTCCCTAACCCTTGTGAAGACAAGGACCAGCTTTGA       c.1560
 G  I  H  L  R  L  R  R  L  P  N  P  C  E  D  K  D  Q  L  X         p.519

          .         .         .         .         .                 g.16420
 gggcctccacctgccatcctgtcttcctgacccccactcctatctcctgcctgtctg          c.*57

 (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 Cytochrome P450, family 4, subfamily A, polypeptide 22 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.