CD3e molecule, epsilon (CD3-TCR complex) (CD3E) - 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 CD3E gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering CD3E transcript NM_000733.3.

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

 (upstream sequence)
                                                   .                g.1016
                                             tattgtcagagtcctc       c.-241

 .         .         .         .         .         .                g.1076
 ttgtttggccttctaggaaggctgtgggacccagctttcttcaaccagtccaggtggagg       c.-181

 .         .         .         .         .         .                g.1136
 cctctgccttgaacgtttccaagtgaggtaaaacccgcaggcccagaggcctctctactt       c.-121

 .         .         .         .         .         .                g.1196
 cctgtgtggggttcagaaaccctcctcccctcccagcctcaggtgcctgcttcagaaaat       c.-61

 . | 02       .         .         .         .         .             g.1373
 g | aagtagtaagtctgctggcctccgccatcttagtaaagtaacagtcccatgaaacaaag    c.-1

          .         .         .         .          | 03        .    g.3719
 ATGCAGTCGGGCACTCACTGGAGAGTTCTGGGCCTCTGCCTCTTATCAG | TTGGCGTTTGG    c.60
 M  Q  S  G  T  H  W  R  V  L  G  L  C  L  L  S  V |   G  V  W      p.20

          . | 04       .      | 05  .         .    | 06    .         . g.9055
 GGGCAAGATG | GTAATGAAGAAATGG | GTGGTATTACACAGACAC | CATATAAAGTCTCCATC c.120
 G  Q  D  G |   N  E  E  M  G |   G  I  T  Q  T  P |   Y  K  V  S  I   p.40

          .         .         .         .         .         .       g.9115
 TCTGGAACCACAGTAATATTGACATGCCCTCAGTATCCTGGATCTGAAATACTATGGCAA       c.180
 S  G  T  T  V  I  L  T  C  P  Q  Y  P  G  S  E  I  L  W  Q         p.60

          .         .         .         .         .         .       g.9175
 CACAATGATAAAAACATAGGCGGTGATGAGGATGATAAAAACATAGGCAGTGATGAGGAT       c.240
 H  N  D  K  N  I  G  G  D  E  D  D  K  N  I  G  S  D  E  D         p.80

          .         .         .         .         .         .       g.9235
 CACCTGTCACTGAAGGAATTTTCAGAATTGGAGCAAAGTGGTTATTATGTCTGCTACCCC       c.300
 H  L  S  L  K  E  F  S  E  L  E  Q  S  G  Y  Y  V  C  Y  P         p.100

          .         .         .         .         .   | 07     .    g.10135
 AGAGGAAGCAAACCAGAAGATGCGAACTTTTATCTCTACCTGAGGGCAAGAG | TGTGTGAG    c.360
 R  G  S  K  P  E  D  A  N  F  Y  L  Y  L  R  A  R  V |   C  E      p.120

          .         .         .         .         .         .       g.10195
 AACTGCATGGAGATGGATGTGATGTCGGTGGCCACAATTGTCATAGTGGACATCTGCATC       c.420
 N  C  M  E  M  D  V  M  S  V  A  T  I  V  I  V  D  I  C  I         p.140

          .         .         .         .         .         .       g.10255
 ACTGGGGGCTTGCTGCTGCTGGTTTACTACTGGAGCAAGAATAGAAAGGCCAAGGCCAAG       c.480
 T  G  G  L  L  L  L  V  Y  Y  W  S  K  N  R  K  A  K  A  K         p.160

          .         .         .         . | 08       .         .    g.10888
 CCTGTGACACGAGGAGCGGGTGCTGGCGGCAGGCAAAGGG | GACAAAACAAGGAGAGGCCA    c.540
 P  V  T  R  G  A  G  A  G  G  R  Q  R  G |   Q  N  K  E  R  P      p.180

          .         .        | 09.         .         .         .    g.11939
 CCACCTGTTCCCAACCCAGACTATGAG | CCCATCCGGAAAGGCCAGCGGGACCTGTATTCT    c.600
 P  P  V  P  N  P  D  Y  E   | P  I  R  K  G  Q  R  D  L  Y  S      p.200

          .         .                                               g.11963
 GGCCTGAATCAGAGACGCATCTGA                                           c.624
 G  L  N  Q  R  R  I  X                                             p.207

          .         .         .         .         .         .       g.12023
 ccctctggagaacactgcctcccgctggcccaggtctcctctccagtccccctgcgactc       c.*60

          .         .         .         .         .         .       g.12083
 cctgtttcctgggctagtcttggaccccacgagagagaatcgttcctcagcctcatggtg       c.*120

          .         .         .         .         .         .       g.12143
 aactcgcgccctccagcctgatcccccgctccctcctccctgccttctctgctggtaccc       c.*180

          .         .         .         .         .         .       g.12203
 agtcctaaaatattgctgcttcctcttcctttgaagcatcatcagtagtcacaccctcac       c.*240

          .         .         .         .         .         .       g.12263
 agctggcctgccctcttgccaggatatttatttgtgctattcactcccttccctttggat       c.*300

          .         .         .         .         .         .       g.12323
 gtaacttctccgttcagttccctccttttcttgcatgtaagttgtcccccatcccaaagt       c.*360

          .         .         .         .         .         .       g.12383
 attccatctacttttctatcgccgtccccttttgcagccctctctggggatggactgggt       c.*420

          .         .         .         .         .         .       g.12443
 aaatgttgacagaggccctgccccgttcacagatcctggccctgagccagccctgtgctc       c.*480

          .         .         .         .         .         .       g.12503
 ctccctcccccaacactccctaccaaccccctaatcccctactccctccaccccccctcc       c.*540

          .         .         .         .         .         .       g.12563
 actgtaggccactggatggtcatttgcatctccgtaaatgtgctctgctcctcagctgag       c.*600

          .         .         .                                     g.12596
 agagaaaaaaataaactgtatttggctgcaaga                                  c.*633

 (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 CD3e molecule, epsilon (CD3-TCR complex) 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.