interleukin 7 receptor (IL7R) - 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 IL7R gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000005.9, covering IL7R transcript NM_002185.2.

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

 (upstream sequence)
                                         .         .                g.1029
                                gtcttcctccctccctcccttcctcttac       c.-61

 .         .         .         .         .         .                g.1089
 tctcattcatttcatacacactggctcacacatctactctctctctctatctctctcaga       c.-1

          .         .         .         .         .         .       g.1149
 ATGACAATTCTAGGTACAACTTTTGGCATGGTTTTTTCTTTACTTCAAGTCGTTTCTGGA       c.60
 M  T  I  L  G  T  T  F  G  M  V  F  S  L  L  Q  V  V  S  G         p.20

          .         .   | 02     .         .         .         .    g.5001
 GAAAGTGGCTATGCTCAAAATG | GAGACTTGGAAGATGCAGAACTGGATGACTACTCATTC    c.120
 E  S  G  Y  A  Q  N  G |   D  L  E  D  A  E  L  D  D  Y  S  F      p.40

          .         .         .         .         .         .       g.5061
 TCATGCTATAGCCAGTTGGAAGTGAATGGATCGCAGCACTCACTGACCTGTGCTTTTGAG       c.180
 S  C  Y  S  Q  L  E  V  N  G  S  Q  H  S  L  T  C  A  F  E         p.60

          .         .         .         .  | 03      .         .    g.11436
 GACCCAGATGTCAACATCACCAATCTGGAATTTGAAATATG | TGGGGCCCTCGTGGAGGTA    c.240
 D  P  D  V  N  I  T  N  L  E  F  E  I  C  |  G  A  L  V  E  V      p.80

          .         .         .         .         .         .       g.11496
 AAGTGCCTGAATTTCAGGAAACTACAAGAGATATATTTCATCGAGACAAAGAAATTCTTA       c.300
 K  C  L  N  F  R  K  L  Q  E  I  Y  F  I  E  T  K  K  F  L         p.100

          .         .         .         .         .         .       g.11556
 CTGATTGGAAAGAGCAATATATGTGTGAAGGTTGGAGAAAAGAGTCTAACCTGCAAAAAA       c.360
 L  I  G  K  S  N  I  C  V  K  V  G  E  K  S  L  T  C  K  K         p.120

          .          | 04        .         .         .         .    g.15208
 ATAGACCTAACCACTATAG | TTAAACCTGAGGCTCCTTTTGACCTGAGTGTCGTCTATCGG    c.420
 I  D  L  T  T  I  V |   K  P  E  A  P  F  D  L  S  V  V  Y  R      p.140

          .         .         .         .         .         .       g.15268
 GAAGGAGCCAATGACTTTGTGGTGACATTTAATACATCACACTTGCAAAAGAAGTATGTA       c.480
 E  G  A  N  D  F  V  V  T  F  N  T  S  H  L  Q  K  K  Y  V         p.160

          .         .         .         .         .        | 05.    g.17594
 AAAGTTTTAATGCACGATGTAGCTTACCGCCAGGAAAAGGATGAAAACAAATGGACG | CAT    c.540
 K  V  L  M  H  D  V  A  Y  R  Q  E  K  D  E  N  K  W  T   | H      p.180

          .         .         .         .         .         .       g.17654
 GTGAATTTATCCAGCACAAAGCTGACACTCCTGCAGAGAAAGCTCCAACCGGCAGCAATG       c.600
 V  N  L  S  S  T  K  L  T  L  L  Q  R  K  L  Q  P  A  A  M         p.200

          .         .         .         .         .         .       g.17714
 TATGAGATTAAAGTTCGATCCATCCCTGATCACTATTTTAAAGGCTTCTGGAGTGAATGG       c.660
 Y  E  I  K  V  R  S  I  P  D  H  Y  F  K  G  F  W  S  E  W         p.220

          .         .         .         .       | 06 .         .    g.18574
 AGTCCAAGTTATTACTTCAGAACTCCAGAGATCAATAATAGCTCAG | GGGAGATGGATCCT    c.720
 S  P  S  Y  Y  F  R  T  P  E  I  N  N  S  S  G |   E  M  D  P      p.240

          .         .         .         .         .         .       g.18634
 ATCTTACTAACCATCAGCATTTTGAGTTTTTTCTCTGTCGCTCTGTTGGTCATCTTGGCC       c.780
 I  L  L  T  I  S  I  L  S  F  F  S  V  A  L  L  V  I  L  A         p.260

          .         . | 07       .         .         .         .    g.19663
 TGTGTGTTATGGAAAAAAAG | GATTAAGCCTATCGTATGGCCCAGTCTCCCCGATCATAAG    c.840
 C  V  L  W  K  K  R  |  I  K  P  I  V  W  P  S  L  P  D  H  K      p.280

          .         .         .       | 08 .         .         .    g.20118
 AAGACTCTGGAACATCTTTGTAAGAAACCAAGAAAA | AATTTAAATGTGAGTTTCAATCCT    c.900
 K  T  L  E  H  L  C  K  K  P  R  K   | N  L  N  V  S  F  N  P      p.300

          .         .         .         .         .         .       g.20178
 GAAAGTTTCCTGGACTGCCAGATTCATAGGGTGGATGACATTCAAGCTAGAGATGAAGTG       c.960
 E  S  F  L  D  C  Q  I  H  R  V  D  D  I  Q  A  R  D  E  V         p.320

          .         .         .         .         .         .       g.20238
 GAAGGTTTTCTGCAAGATACGTTTCCTCAGCAACTAGAAGAATCTGAGAAGCAGAGGCTT       c.1020
 E  G  F  L  Q  D  T  F  P  Q  Q  L  E  E  S  E  K  Q  R  L         p.340

          .         .         .         .         .         .       g.20298
 GGAGGGGATGTGCAGAGCCCCAACTGCCCATCTGAGGATGTAGTCATCACTCCAGAAAGC       c.1080
 G  G  D  V  Q  S  P  N  C  P  S  E  D  V  V  I  T  P  E  S         p.360

          .         .         .         .         .         .       g.20358
 TTTGGAAGAGATTCATCCCTCACATGCCTGGCTGGGAATGTCAGTGCATGTGACGCCCCT       c.1140
 F  G  R  D  S  S  L  T  C  L  A  G  N  V  S  A  C  D  A  P         p.380

          .         .         .         .         .         .       g.20418
 ATTCTCTCCTCTTCCAGGTCCCTAGACTGCAGGGAGAGTGGCAAGAATGGGCCTCATGTG       c.1200
 I  L  S  S  S  R  S  L  D  C  R  E  S  G  K  N  G  P  H  V         p.400

          .         .         .         .         .         .       g.20478
 TACCAGGACCTCCTGCTTAGCCTTGGGACTACAAACAGCACGCTGCCCCCTCCATTTTCT       c.1260
 Y  Q  D  L  L  L  S  L  G  T  T  N  S  T  L  P  P  P  F  S         p.420

          .         .         .         .         .         .       g.20538
 CTCCAATCTGGAATCCTGACATTGAACCCAGTTGCTCAGGGTCAGCCCATTCTTACTTCC       c.1320
 L  Q  S  G  I  L  T  L  N  P  V  A  Q  G  Q  P  I  L  T  S         p.440

          .         .         .         .         .         .       g.20598
 CTGGGATCAAATCAAGAAGAAGCATATGTCACCATGTCCAGCTTCTACCAAAACCAGTGA       c.1380
 L  G  S  N  Q  E  E  A  Y  V  T  M  S  S  F  Y  Q  N  Q  X         p.459

          .         .         .         .         .         .       g.20658
 agtgtaagaaacccagactgaacttaccgtgagcgacaaagatgatttaaaagggaagtc       c.*60

          .         .         .         .         .         .       g.20718
 tagagttcctagtctccctcacagcacagagaagacaaaattagcaaaaccccactacac       c.*120

          .         .         .         .         .         .       g.20778
 agtctgcaagattctgaaacattgctttgaccactcttcctgagttcagtggcactcaac       c.*180

          .         .         .         .         .         .       g.20838
 atgagtcaagagcatcctgcttctaccatgtggatttggtcacaaggtttaaggtgaccc       c.*240

          .         .         .         .         .         .       g.20898
 aatgattcagctatttaaaaaaaaaagaggaaagaatgaaagagtaaaggaaatgattga       c.*300

          .         .         .                                     g.20934
 ggagtgaggaaggcaggaagagagcatgagaggaaa                               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 Interleukin 7 receptor 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.