cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5) - coding DNA reference sequence

(used for variant description)

(last modified December 20, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_000777.3 in the CYP3A5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007938.1, covering CYP3A5 transcript NM_000777.3.

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

 (upstream sequence)
                     .         .         .         .                g.5042
                   ctgctgtgcagggcagggaagctccaggcaaacagcccagca       c.-61

 .         .         .         .         .         .                g.5102
 aacagcagcactcagctaaaaggaagactcacagaacacagttgaagaaggaaagtggcg       c.-1

          .         .         .         .         .         .       g.5162
 ATGGACCTCATCCCAAATTTGGCGGTGGAAACCTGGCTTCTCCTGGCTGTCAGCCTGGTG       c.60
 M  D  L  I  P  N  L  A  V  E  T  W  L  L  L  A  V  S  L  V         p.20

          .  | 02      .         .         .         .         .    g.8839
 CTCCTCTATCT | ATATGGGACCCGTACACATGGACTTTTTAAGAGACTGGGAATTCCAGGG    c.120
 L  L  Y  L  |  Y  G  T  R  T  H  G  L  F  K  R  L  G  I  P  G      p.40

          .         .         .         .      | 03  .         .    g.10428
 CCCACACCTCTGCCTTTGTTGGGAAATGTTTTGTCCTATCGTCAG | GGTCTCTGGAAATTT    c.180
 P  T  P  L  P  L  L  G  N  V  L  S  Y  R  Q   | G  L  W  K  F      p.60

          .         .         .         | 04         .         .    g.12341
 GACACAGAGTGCTATAAAAAGTATGGAAAAATGTGGGG | AACGTATGAAGGTCAACTCCCT    c.240
 D  T  E  C  Y  K  K  Y  G  K  M  W  G  |  T  Y  E  G  Q  L  P      p.80

          .         .         .         .         .         .       g.12401
 GTGCTGGCCATCACAGATCCCGACGTGATCAGAACAGTGCTAGTGAAAGAATGTTATTCT       c.300
 V  L  A  I  T  D  P  D  V  I  R  T  V  L  V  K  E  C  Y  S         p.100

          .         | 05         .         .         .         .    g.17975
 GTCTTCACAAATCGAAGG | TCTTTAGGCCCAGTGGGATTTATGAAAAGTGCCATCTCTTTA    c.360
 V  F  T  N  R  R   | S  L  G  P  V  G  F  M  K  S  A  I  S  L      p.120

          .         .         .         .         .         .       g.18035
 GCTGAGGATGAAGAATGGAAGAGAATACGGTCATTGCTGTCTCCAACCTTCACCAGCGGA       c.420
 A  E  D  E  E  W  K  R  I  R  S  L  L  S  P  T  F  T  S  G         p.140

          .   | 06     .         .         .         .         .    g.18357
 AAACTCAAGGAG | ATGTTCCCCATCATTGCCCAGTATGGAGATGTATTGGTGAGAAACTTG    c.480
 K  L  K  E   | M  F  P  I  I  A  Q  Y  G  D  V  L  V  R  N  L      p.160

          .         .         .         .  | 07      .         .    g.19703
 AGGCGGGAAGCAGAGAAAGGCAAGCCTGTCACCTTGAAAGA | CATCTTTGGGGCCTACAGC    c.540
 R  R  E  A  E  K  G  K  P  V  T  L  K  D  |  I  F  G  A  Y  S      p.180

          .         .         .         .         .         .       g.19763
 ATGGATGTGATTACTGGCACATCATTTGGAGTGAACATCGACTCTCTCAACAATCCACAA       c.600
 M  D  V  I  T  G  T  S  F  G  V  N  I  D  S  L  N  N  P  Q         p.200

          .         .         .         .         .         .       g.19823
 GACCCCTTTGTGGAGAGCACTAAGAAGTTCCTAAAATTTGGTTTCTTAGATCCATTATTT       c.660
 D  P  F  V  E  S  T  K  K  F  L  K  F  G  F  L  D  P  L  F         p.220

          . | 08       .         .         .         .         .    g.20953
 CTCTCAATAA | TACTCTTTCCATTCCTTACCCCAGTTTTTGAAGCATTAAATGTCTCTCTG    c.720
 L  S  I  I |   L  F  P  F  L  T  P  V  F  E  A  L  N  V  S  L      p.240

          .         .         .         .         .         .       g.21013
 TTTCCAAAAGATACCATAAATTTTTTAAGTAAATCTGTAAACAGAATGAAGAAAAGTCGC       c.780
 F  P  K  D  T  I  N  F  L  S  K  S  V  N  R  M  K  K  S  R         p.260

          .         | 09         .         .         .         .    g.22158
 CTCAACGACAAACAAAAG | CACCGACTAGATTTCCTTCAGCTGATGATTGACTCCCAGAAT    c.840
 L  N  D  K  Q  K   | H  R  L  D  F  L  Q  L  M  I  D  S  Q  N      p.280

          .         .      | 10  .         .         .         .    g.24374
 TCGAAAGAAACTGAGTCCCACAAAG | CTCTGTCTGATCTGGAGCTCGCAGCCCAGTCAATA    c.900
 S  K  E  T  E  S  H  K  A |   L  S  D  L  E  L  A  A  Q  S  I      p.300

          .         .         .         .         .         .       g.24434
 ATCTTCATTTTTGCTGGCTATGAAACCACCAGCAGTGTTCTTTCCTTCACTTTATATGAA       c.960
 I  F  I  F  A  G  Y  E  T  T  S  S  V  L  S  F  T  L  Y  E         p.320

          .         .         .         .         .         .       g.24494
 CTGGCCACTCACCCTGATGTCCAGCAGAAACTGCAAAAGGAGATTGATGCAGTTTTGCCC       c.1020
 L  A  T  H  P  D  V  Q  Q  K  L  Q  K  E  I  D  A  V  L  P         p.340

        | 11 .         .         .         .         .         .    g.32273
 AATAAG | GCACCACCTACCTATGATGCCGTGGTACAGATGGAGTACCTTGACATGGTGGTG    c.1080
 N  K   | A  P  P  T  Y  D  A  V  V  Q  M  E  Y  L  D  M  V  V      p.360

          .         .         .         .         .         .       g.32333
 AATGAAACACTCAGATTATTCCCAGTTGCTATTAGACTTGAGAGGACTTGCAAGAAAGAT       c.1140
 N  E  T  L  R  L  F  P  V  A  I  R  L  E  R  T  C  K  K  D         p.380

          .         .         .         .         .         .       g.32393
 GTTGAAATCAATGGGGTATTCATTCCCAAAGGGTCAATGGTGGTGATTCCAACTTATGCT       c.1200
 V  E  I  N  G  V  F  I  P  K  G  S  M  V  V  I  P  T  Y  A         p.400

          .         .         .         .         .    | 12    .    g.34773
 CTTCACCATGACCCAAAGTACTGGACAGAGCCTGAGGAGTTCCGCCCTGAAAG | GTTCAGT    c.1260
 L  H  H  D  P  K  Y  W  T  E  P  E  E  F  R  P  E  R  |  F  S      p.420

          .         .         .         .         .         .       g.34833
 AAGAAGAAGGACAGCATAGATCCTTACATATACACACCCTTTGGAACTGGACCCAGAAAC       c.1320
 K  K  K  D  S  I  D  P  Y  I  Y  T  P  F  G  T  G  P  R  N         p.440

          .         .         .         .         .         .       g.34893
 TGCATTGGCATGAGGTTTGCTCTCATGAACATGAAACTTGCTCTAATCAGAGTCCTTCAG       c.1380
 C  I  G  M  R  F  A  L  M  N  M  K  L  A  L  I  R  V  L  Q         p.460

          .         .         .    | 13    .         .         .    g.36625
 AACTTCTCCTTCAAACCTTGTAAAGAAACACAG | ATCCCCTTGAAATTAGACACGCAAGGA    c.1440
 N  F  S  F  K  P  C  K  E  T  Q   | I  P  L  K  L  D  T  Q  G      p.480

          .         .         .         .         .         .       g.36685
 CTTCTTCAACCAGAAAAACCCATTGTTCTAAAGGTGGATTCAAGAGATGGAACCCTAAGT       c.1500
 L  L  Q  P  E  K  P  I  V  L  K  V  D  S  R  D  G  T  L  S         p.500

                                                                    g.36694
 GGAGAATGA                                                          c.1509
 G  E  X                                                            p.502

          .         .         .         .         .         .       g.36754
 gttattctaaggatttctactttggtcttcaagaaagctgtgccccagaacaccagagat       c.*60

          .         .         .         .         .                 g.36809
 ttcaacttagtcaataaaaccttgaaataaagatgggcttaatctaatgtactgc            c.*115

 (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 3, subfamily A, polypeptide 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 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.