CD320 molecule (CD320) - coding DNA reference sequence

(used for variant description)

(last modified October 11, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_016579.3 in the CD320 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_028124.1, covering CD320 transcript NM_016579.3.

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

 (upstream sequence)
                                                                    g.5006
                                                       gtgcgc       c.-61

 .         .         .         .         .         .                g.5066
 gtgcgcagggataagagagcggtctggacagcgcgtggccggcgccgctgtggggacagc       c.-1

          .         .         .         .         .         .       g.5126
 ATGAGCGGCGGTTGGATGGCGCAGGTTGGAGCGTGGCGAACAGGGGCTCTGGGCCTGGCG       c.60
 M  S  G  G  W  M  A  Q  V  G  A  W  R  T  G  A  L  G  L  A         p.20

          .         .         .         .         .         .       g.5186
 CTGCTGCTGCTGCTCGGCCTCGGACTAGGCCTGGAGGCCGCCGCGAGCCCGCTTTCCACC       c.120
 L  L  L  L  L  G  L  G  L  G  L  E  A  A  A  S  P  L  S  T         p.40

          .         .   | 02     .         .         .         .    g.8238
 CCGACCTCTGCCCAGGCCGCAG | GCCCCAGCTCAGGCTCGTGCCCACCCACCAAGTTCCAG    c.180
 P  T  S  A  Q  A  A  G |   P  S  S  G  S  C  P  P  T  K  F  Q      p.60

          .         .         .         .         .         .       g.8298
 TGCCGCACCAGTGGCTTATGCGTGCCCCTCACCTGGCGCTGCGACAGGGACTTGGACTGC       c.240
 C  R  T  S  G  L  C  V  P  L  T  W  R  C  D  R  D  L  D  C         p.80

          .         .         | 03         .         .         .    g.9300
 AGCGATGGCAGCGATGAGGAGGAGTGCA | GGATTGAGCCATGTACCCAGAAAGGGCAATGC    c.300
 S  D  G  S  D  E  E  E  C  R |   I  E  P  C  T  Q  K  G  Q  C      p.100

          .         .         .         .         .         .       g.9360
 CCACCGCCCCCTGGCCTCCCCTGCCCCTGCACCGGCGTCAGTGACTGCTCTGGGGGAACT       c.360
 P  P  P  P  G  L  P  C  P  C  T  G  V  S  D  C  S  G  G  T         p.120

          .         .         .         .         .         .       g.9420
 GACAAGAAACTGCGCAACTGCAGCCGCCTGGCCTGCCTAGCAGGCGAGCTCCGTTGCACG       c.420
 D  K  K  L  R  N  C  S  R  L  A  C  L  A  G  E  L  R  C  T         p.140

          .         .         .         .         .         .       g.9480
 CTGAGCGATGACTGCATTCCACTCACGTGGCGCTGCGACGGCCACCCAGACTGTCCCGAC       c.480
 L  S  D  D  C  I  P  L  T  W  R  C  D  G  H  P  D  C  P  D         p.160

          .         .   | 04     .         .         .         .    g.10414
 TCCAGCGACGAGCTCGGCTGTG | GAACCAATGAGATCCTCCCGGAAGGGGATGCCACAACC    c.540
 S  S  D  E  L  G  C  G |   T  N  E  I  L  P  E  G  D  A  T  T      p.180

          .         .         .         .         .         .       g.10474
 ATGGGGCCCCCTGTGACCCTGGAGAGTGTCACCTCTCTCAGGAATGCCACAACCATGGGG       c.600
 M  G  P  P  V  T  L  E  S  V  T  S  L  R  N  A  T  T  M  G         p.200

          .         .         .         .         .         .       g.10534
 CCCCCTGTGACCCTGGAGAGTGTCCCCTCTGTCGGGAATGCCACATCCTCCTCTGCCGGA       c.660
 P  P  V  T  L  E  S  V  P  S  V  G  N  A  T  S  S  S  A  G         p.220

          .         .         .         .       | 05 .         .    g.10765
 GACCAGTCTGGAAGCCCAACTGCCTATGGGGTTATTGCAGCTGCTG | CGGTGCTCAGTGCA    c.720
 D  Q  S  G  S  P  T  A  Y  G  V  I  A  A  A  A |   V  L  S  A      p.240

          .         .         .         .         .         .       g.10825
 AGCCTGGTCACCGCCACCCTCCTCCTTTTGTCCTGGCTCCGAGCCCAGGAGCGCCTCCGC       c.780
 S  L  V  T  A  T  L  L  L  L  S  W  L  R  A  Q  E  R  L  R         p.260

          .         .         .         .         .         .       g.10885
 CCACTGGGGTTACTGGTGGCCATGAAGGAGTCCCTGCTGCTGTCAGAACAGAAGACCTCG       c.840
 P  L  G  L  L  V  A  M  K  E  S  L  L  L  S  E  Q  K  T  S         p.280

                                                                    g.10894
 CTGCCCTGA                                                          c.849
 L  P  X                                                            p.282

          .         .         .         .         .         .       g.10954
 ggacaagcacttgccaccaccgtcactcagccctgggcgtagccggacaggaggagagca       c.*60

          .         .         .         .         .         .       g.11014
 gtgatgcggatgggtacccgggcacaccagccctcagagacctgagctcttctggccacg       c.*120

          .         .         .         .         .         .       g.11074
 tggaacctcgaacccgagctcctgcagaagtggccctggagattgagggtccctggacac       c.*180

          .         .         .         .         .         .       g.11134
 tccctatggagatccggggagctaggatggggaacctgccacagccagaactgaggggct       c.*240

          .         .         .         .         .         .       g.11194
 ggccccaggcagctcccagggggtagaacggccctgtgcttaagacactcctgctgcccc       c.*300

          .         .         .                                     g.11230
 gtctgagggtggcgattaaagttgcttcacatcctc                               c.*336

 (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 CD320 molecule 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.