interleukin 1, beta (IL1B) - coding DNA reference sequence

(used for mutation description)

(last modified July 9, 2012)

This file was created to facilitate the description of sequence variants on transcript NM_000576.2 in the IL1B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008851.1, covering IL1B transcript NM_000576.2.

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

 (upstream sequence)
                                         .         .                g.5027
                                  accaaacctcttcgaggcacaaggcac       c.-61

 .         .         .         .         .     | 02   .             g.5550
 aacaggctgctctgggattctcttcagccaatcttcattgctcaa | gtgtctgaagcagcc    c.-1

          .         .         .         .        | 03.         .    g.6175
 ATGGCAGAAGTACCTGAGCTCGCCAGTGAAATGATGGCTTATTACAG | TGGCAATGAGGAT    c.60
 M  A  E  V  P  E  L  A  S  E  M  M  A  Y  Y  S  |  G  N  E  D      p.20

          .         .         .          | 04        .         .    g.8225
 GACTTGTTCTTTGAAGCTGATGGCCCTAAACAGATGAAG | TGCTCCTTCCAGGACCTGGAC    c.120
 D  L  F  F  E  A  D  G  P  K  Q  M  K   | C  S  F  Q  D  L  D      p.40

          .         .         .         .         .         .       g.8285
 CTCTGCCCTCTGGATGGCGGCATCCAGCTACGAATCTCCGACCACCACTACAGCAAGGGC       c.180
 L  C  P  L  D  G  G  I  Q  L  R  I  S  D  H  H  Y  S  K  G         p.60

          .         .         .         .         .         .       g.8345
 TTCAGGCAGGCCGCGTCAGTTGTTGTGGCCATGGACAAGCTGAGGAAGATGCTGGTTCCC       c.240
 F  R  Q  A  A  S  V  V  V  A  M  D  K  L  R  K  M  L  V  P         p.80

          .         .         .         .         .         .       g.8405
 TGCCCACAGACCTTCCAGGAGAATGACCTGAGCACCTTCTTTCCCTTCATCTTTGAAGAA       c.300
 C  P  Q  T  F  Q  E  N  D  L  S  T  F  F  P  F  I  F  E  E         p.100

   | 05      .         .         .         .         .         .    g.9012
 G | AACCTATCTTCTTCGACACATGGGATAACGAGGCTTATGTGCACGATGCACCTGTACGA    c.360
 E |   P  I  F  F  D  T  W  D  N  E  A  Y  V  H  D  A  P  V  R      p.120

          .         .         .         .         .         .       g.9072
 TCACTGAACTGCACGCTCCGGGACTCACAGCAAAAAAGCTTGGTGATGTCTGGTCCATAT       c.420
 S  L  N  C  T  L  R  D  S  Q  Q  K  S  L  V  M  S  G  P  Y         p.140

          .         .         .         .       | 06 .         .    g.10371
 GAACTGAAAGCTCTCCACCTCCAGGGACAGGATATGGAGCAACAAG | TGGTGTTCTCCATG    c.480
 E  L  K  A  L  H  L  Q  G  Q  D  M  E  Q  Q  V |   V  F  S  M      p.160

          .         .         .         .         .         .       g.10431
 TCCTTTGTACAAGGAGAAGAAAGTAATGACAAAATACCTGTGGCCTTGGGCCTCAAGGAA       c.540
 S  F  V  Q  G  E  E  S  N  D  K  I  P  V  A  L  G  L  K  E         p.180

          .         .         .         .         .        | 07.    g.11209
 AAGAATCTGTACCTGTCCTGCGTGTTGAAAGATGATAAGCCCACTCTACAGCTGGAG | AGT    c.600
 K  N  L  Y  L  S  C  V  L  K  D  D  K  P  T  L  Q  L  E   | S      p.200

          .         .         .         .         .         .       g.11269
 GTAGATCCCAAAAATTACCCAAAGAAGAAGATGGAAAAGCGATTTGTCTTCAACAAGATA       c.660
 V  D  P  K  N  Y  P  K  K  K  M  E  K  R  F  V  F  N  K  I         p.220

          .         .         .         .         .         .       g.11329
 GAAATCAATAACAAGCTGGAATTTGAGTCTGCCCAGTTCCCCAACTGGTACATCAGCACC       c.720
 E  I  N  N  K  L  E  F  E  S  A  Q  F  P  N  W  Y  I  S  T         p.240

          .         .         .         .         .         .       g.11389
 TCTCAAGCAGAAAACATGCCCGTCTTCCTGGGAGGGACCAAAGGCGGCCAGGATATAACT       c.780
 S  Q  A  E  N  M  P  V  F  L  G  G  T  K  G  G  Q  D  I  T         p.260

          .         .         .                                     g.11419
 GACTTCACCATGCAATTTGTGTCTTCCTAA                                     c.810
 D  F  T  M  Q  F  V  S  S  X                                       p.269

          .         .         .         .         .         .       g.11479
 agagagctgtacccagagagtcctgtgctgaatgtggactcaatccctagggctggcaga       c.*60

          .         .         .         .         .         .       g.11539
 aagggaacagaaaggtttttgagtacggctatagcctggactttcctgttgtctacacca       c.*120

          .         .         .         .         .         .       g.11599
 atgcccaactgcctgccttagggtagtgctaagaggatctcctgtccatcagccaggaca       c.*180

          .         .         .         .         .         .       g.11659
 gtcagctctctcctttcagggccaatccccagcccttttgttgagccaggcctctctcac       c.*240

          .         .         .         .         .         .       g.11719
 ctctcctactcacttaaagcccgcctgacagaaaccacggccacatttggttctaagaaa       c.*300

          .         .         .         .         .         .       g.11779
 ccctctgtcattcgctcccacattctgatgagcaaccgcttccctatttatttatttatt       c.*360

          .         .         .         .         .         .       g.11839
 tgtttgtttgttttattcattggtctaatttattcaaagggggcaagaagtagcagtgtc       c.*420

          .         .         .         .         .         .       g.11899
 tgtaaaagagcctagtttttaatagctatggaatcaattcaatttggactggtgtgctct       c.*480

          .         .         .         .         .         .       g.11959
 ctttaaatcaagtcctttaattaagactgaaaatatataagctcagattatttaaatggg       c.*540

          .         .         .         .         .         .       g.12019
 aatatttataaatgagcaaatatcatactgttcaatggttctgaaataaacttcactgaa       c.*600

                                                                    g.12020
 g                                                                  c.*601

 (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 1, beta 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.