cytotoxic T-lymphocyte-associated protein 4 (CTLA4) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)

This file was created to facilitate the description of sequence variants in the CTLA4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering CTLA4 transcript NM_005214.4.

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

 (upstream sequence)
                               .         .         .                g.1035
                          cttctgtgtgtgcacatgtgtaatacatatctggg       c.-121

 .         .         .         .         .         .                g.1095
 atcaaagctatctatataaagtccttgattctgtgtgggttcaaacacatttcaaagctt       c.-61

 .         .         .         .         .         .                g.1155
 caggatcctgaaaggttttgctctacttcctgaagacctgaacaccgctcccataaagcc       c.-1

          .         .         .         .         .         .       g.1215
 ATGGCTTGCCTTGGATTTCAGCGGCACAAGGCTCAGCTGAACCTGGCTACCAGGACCTGG       c.60
 M  A  C  L  G  F  Q  R  H  K  A  Q  L  N  L  A  T  R  T  W         p.20

          .         .         .         .          | 02        .    g.3809
 CCCTGCACTCTCCTGTTTTTTCTTCTCTTCATCCCTGTCTTCTGCAAAG | CAATGCACGTG    c.120
 P  C  T  L  L  F  F  L  L  F  I  P  V  F  C  K  A |   M  H  V      p.40

          .         .         .         .         .         .       g.3869
 GCCCAGCCTGCTGTGGTACTGGCCAGCAGCCGAGGCATCGCCAGCTTTGTGTGTGAGTAT       c.180
 A  Q  P  A  V  V  L  A  S  S  R  G  I  A  S  F  V  C  E  Y         p.60

          .         .         .         .         .         .       g.3929
 GCATCTCCAGGCAAAGCCACTGAGGTCCGGGTGACAGTGCTTCGGCAGGCTGACAGCCAG       c.240
 A  S  P  G  K  A  T  E  V  R  V  T  V  L  R  Q  A  D  S  Q         p.80

          .         .         .         .         .         .       g.3989
 GTGACTGAAGTCTGTGCGGCAACCTACATGATGGGGAATGAGTTGACCTTCCTAGATGAT       c.300
 V  T  E  V  C  A  A  T  Y  M  M  G  N  E  L  T  F  L  D  D         p.100

          .         .         .         .         .         .       g.4049
 TCCATCTGCACGGGCACCTCCAGTGGAAATCAAGTGAACCTCACTATCCAAGGACTGAGG       c.360
 S  I  C  T  G  T  S  S  G  N  Q  V  N  L  T  I  Q  G  L  R         p.120

          .         .         .         .         .         .       g.4109
 GCCATGGACACGGGACTCTACATCTGCAAGGTGGAGCTCATGTACCCACCGCCATACTAC       c.420
 A  M  D  T  G  L  Y  I  C  K  V  E  L  M  Y  P  P  P  Y  Y         p.140

          .         .         .        | 03.         .         .    g.4613
 CTGGGCATAGGCAACGGAACCCAGATTTATGTAATTG | ATCCAGAACCGTGCCCAGATTCT    c.480
 L  G  I  G  N  G  T  Q  I  Y  V  I  D |   P  E  P  C  P  D  S      p.160

          .         .         .         .         .         .       g.4673
 GACTTCCTCCTCTGGATCCTTGCAGCAGTTAGTTCGGGGTTGTTTTTTTATAGCTTTCTC       c.540
 D  F  L  L  W  I  L  A  A  V  S  S  G  L  F  F  Y  S  F  L         p.180

          .         .        | 04.         .         .         .    g.5953
 CTCACAGCTGTTTCTTTGAGCAAAATG | CTAAAGAAAAGAAGCCCTCTTACAACAGGGGTC    c.600
 L  T  A  V  S  L  S  K  M   | L  K  K  R  S  P  L  T  T  G  V      p.200

          .         .         .         .         .         .       g.6013
 TATGTGAAAATGCCCCCAACAGAGCCAGAATGTGAAAAGCAATTTCAGCCTTATTTTATT       c.660
 Y  V  K  M  P  P  T  E  P  E  C  E  K  Q  F  Q  P  Y  F  I         p.220

          .                                                         g.6025
 CCCATCAATTGA                                                       c.672
 P  I  N  X                                                         p.223

          .         .         .         .         .         .       g.6085
 gaaaccattatgaagaagagagtccatatttcaatttccaagagctgaggcaattctaac       c.*60

          .         .         .         .         .         .       g.6145
 ttttttgctatccagctatttttatttgtttgtgcatttggggggaattcatctctcttt       c.*120

          .         .         .         .         .         .       g.6205
 aatataaagttggatgcggaacccaaattacgtgtactacaatttaaagcaaaggagtag       c.*180

          .         .         .         .         .         .       g.6265
 aaagacagagctgggatgtttctgtcacatcagctccactttcagtgaaagcatcacttg       c.*240

          .         .         .         .         .         .       g.6325
 ggattaatatggggatgcagcattatgatgtgggtcaaggaattaagttagggaatggca       c.*300

          .         .         .         .         .         .       g.6385
 cagcccaaagaaggaaaaggcagggagcgagggagaagactatattgtacacaccttata       c.*360

          .         .         .         .         .         .       g.6445
 tttacgtatgagacgtttatagccgaaatgatcttttcaagttaaattttatgcctttta       c.*420

          .         .         .         .         .         .       g.6505
 tttcttaaacaaatgtatgattacatcaaggcttcaaaaatactcacatggctatgtttt       c.*480

          .         .         .         .         .         .       g.6565
 agccagtgatgctaaaggttgtattgcatatatacatatatatatatatatatatatata       c.*540

          .         .         .         .         .         .       g.6625
 tatatatatatatatatatatatatatatattttaatttgatagtattgtgcatagagcc       c.*600

          .         .         .         .         .         .       g.6685
 acgtatgtttttgtgtatttgttaatggtttgaatataaacactatatggcagtgtcttt       c.*660

          .         .         .         .         .         .       g.6745
 ccaccttgggtcccagggaagttttgtggaggagctcaggacactaatacaccaggtaga       c.*720

          .         .         .         .         .         .       g.6805
 acacaaggtcatttgctaactagcttggaaactggatgaggtcatagcagtgcttgattg       c.*780

          .         .         .         .         .         .       g.6865
 cgtggaattgtgctgagttggtgttgacatgtgctttggggcttttacaccagttccttt       c.*840

          .         .         .         .         .         .       g.6925
 caatggtttgcaaggaagccacagctggtggtatctgagttgacttgacagaacactgtc       c.*900

          .         .         .         .         .         .       g.6985
 ttgaagacaatggcttactccaggagacccacaggtatgaccttctaggaagctccagtt       c.*960

          .         .         .         .         .         .       g.7045
 cgatgggcccaattcttacaaacatgtggttaatgccatggacagaagaaggcagcaggt       c.*1020

          .         .         .         .         .         .       g.7105
 ggcagaatggggtgcatgaaggtttctgaaaattaacactgcttgtgtttttaactcaat       c.*1080

          .         .         .         .         .         .       g.7165
 attttccatgaaaatgcaacaacatgtataatatttttaattaaataaaaatctgtggtg       c.*1140

                                                                    g.7173
 gtcgtttt                                                           c.*1148

 (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 Cytotoxic T-lymphocyte-associated protein 4 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.