uncoupling protein 2 (mitochondrial, proton carrier) (UCP2) - coding DNA reference sequence

(used for variant description)

(last modified February 19, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_003355.2 in the UCP2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011478.1, covering UCP2 transcript NM_003355.2.

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

 (upstream sequence)
                                         .         .                g.5020
                                         cactgcgaagcccagctgcg       c.-361

 .         .         .         .         .         .                g.5080
 cgcgccttgggattgactgtccacgctcgcccggctcgtccgacgcgccctccgccagcc       c.-301

 .         .         .         .         .    | 02    .             g.6228
 gacagacacagccgcacgcactgccgtgttctccctgcggctcg | gacacatagtatgacc    c.-241

 .         .         .         .         .         .                g.6288
 attaggtgtttcgtctcccacccattttctatggaaaaccaaggggatcgggccatgata       c.-181

 .         .         .         .         .         .                g.6348
 gccactggcagctttgaagaacgggacacctttagagaagcttgatcttggaggcctcac       c.-121

 .         .         . | 03       .         .         .             g.9406
 cgtgagaccttacaaagccgg | attccggcagagttcctctatctcgtcttgttgctgatt    c.-61

 .         .         .         .         .         .                g.9466
 aaaggtgcccctgtctccagtttttctccatctcctgggacgtagcaggaaatcagcatc       c.-1

          .         .         .         .         .         .       g.9526
 ATGGTTGGGTTCAAGGCCACAGATGTGCCCCCTACTGCCACTGTGAAGTTTCTTGGGGCT       c.60
 M  V  G  F  K  A  T  D  V  P  P  T  A  T  V  K  F  L  G  A         p.20

          .         .         .         .         .         .       g.9586
 GGCACAGCTGCCTGCATCGCAGATCTCATCACCTTTCCTCTGGATACTGCTAAAGTCCGG       c.120
 G  T  A  A  C  I  A  D  L  I  T  F  P  L  D  T  A  K  V  R         p.40

        | 04 .         .         .         .         .         .    g.9802
 TTACAG | ATCCAAGGAGAAAGTCAGGGGCCAGTGCGCGCTACAGCCAGCGCCCAGTACCGC    c.180
 L  Q   | I  Q  G  E  S  Q  G  P  V  R  A  T  A  S  A  Q  Y  R      p.60

          .         .         .         .         .         .       g.9862
 GGTGTGATGGGCACCATTCTGACCATGGTGCGTACTGAGGGCCCCCGAAGCCTCTACAAT       c.240
 G  V  M  G  T  I  L  T  M  V  R  T  E  G  P  R  S  L  Y  N         p.80

          .         .         .         .         .         .       g.9922
 GGGCTGGTTGCCGGCCTGCAGCGCCAAATGAGCTTTGCCTCTGTCCGCATCGGCCTGTAT       c.300
 G  L  V  A  G  L  Q  R  Q  M  S  F  A  S  V  R  I  G  L  Y         p.100

          .         .         .        | 05.         .         .    g.10850
 GATTCTGTCAAACAGTTCTACACCAAGGGCTCTGAGC | ATGCCAGCATTGGGAGCCGCCTC    c.360
 D  S  V  K  Q  F  Y  T  K  G  S  E  H |   A  S  I  G  S  R  L      p.120

          .         .         .         .         .         .       g.10910
 CTAGCAGGCAGCACCACAGGTGCCCTGGCTGTGGCTGTGGCCCAGCCCACGGATGTGGTA       c.420
 L  A  G  S  T  T  G  A  L  A  V  A  V  A  Q  P  T  D  V  V         p.140

          .         .         .         .         .         .       g.10970
 AAGGTCCGATTCCAAGCTCAGGCCCGGGCTGGAGGTGGTCGGAGATACCAAAGCACCGTC       c.480
 K  V  R  F  Q  A  Q  A  R  A  G  G  G  R  R  Y  Q  S  T  V         p.160

          .         .         .         .         .   | 06     .    g.11110
 AATGCCTACAAGACCATTGCCCGAGAGGAAGGGTTCCGGGGCCTCTGGAAAG | GGACCTCT    c.540
 N  A  Y  K  T  I  A  R  E  E  G  F  R  G  L  W  K  G |   T  S      p.180

          .         .         .         .         .         .       g.11170
 CCCAATGTTGCTCGTAATGCCATTGTCAACTGTGCTGAGCTGGTGACCTATGACCTCATC       c.600
 P  N  V  A  R  N  A  I  V  N  C  A  E  L  V  T  Y  D  L  I         p.200

          .         .         .     | 07   .         .         .    g.12199
 AAGGATGCCCTCCTGAAAGCCAACCTCATGACAG | ATGACCTCCCTTGCCACTTCACTTCT    c.660
 K  D  A  L  L  K  A  N  L  M  T  D |   D  L  P  C  H  F  T  S      p.220

          .         .         .         .         .         .       g.12259
 GCCTTTGGGGCAGGCTTCTGCACCACTGTCATCGCCTCCCCTGTAGACGTGGTCAAGACG       c.720
 A  F  G  A  G  F  C  T  T  V  I  A  S  P  V  D  V  V  K  T         p.240

          .         .         .         .         .         .       g.12319
 AGATACATGAACTCTGCCCTGGGCCAGTACAGTAGCGCTGGCCACTGTGCCCTTACCATG       c.780
 R  Y  M  N  S  A  L  G  Q  Y  S  S  A  G  H  C  A  L  T  M         p.260

          .         .         .      | 08  .         .         .    g.12748
 CTCCAGAAGGAGGGGCCCCGAGCCTTCTACAAAGG | GTTCATGCCCTCCTTTCTCCGCTTG    c.840
 L  Q  K  E  G  P  R  A  F  Y  K  G  |  F  M  P  S  F  L  R  L      p.280

          .         .         .         .         .         .       g.12808
 GGTTCCTGGAACGTGGTGATGTTCGTCACCTATGAGCAGCTGAAACGAGCCCTCATGGCT       c.900
 G  S  W  N  V  V  M  F  V  T  Y  E  Q  L  K  R  A  L  M  A         p.300

          .         .         .                                     g.12838
 GCCTGCACTTCCCGAGAGGCTCCCTTCTGA                                     c.930
 A  C  T  S  R  E  A  P  F  X                                       p.309

          .         .         .         .         .         .       g.12898
 gcctctcctgctgctgacctgatcacctctggctttgtctctagccgggccatgctttcc       c.*60

          .         .         .         .         .         .       g.12958
 ttttcttccttctttctcttccctccttcccttctctccttccctctttccccacctctt       c.*120

          .         .         .         .         .         .       g.13018
 ccttccgctcctttacctaccaccttccctctttctacattctcatctactcattgtctc       c.*180

          .         .         .         .         .         .       g.13078
 agtgctggtggagttgacatttgacagtgtgggaggcctcgtaccagccaggatcccaag       c.*240

          .         .         .         .         .         .       g.13138
 cgtcccgtcccttggaaagttcagccagaatcttcgtcctgcccccgacagcccagccta       c.*300

          .         .         .                                     g.13174
 gcccacttgtcatccataaagcaagctcaaccttgg                               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 Uncoupling protein 2 (mitochondrial, proton carrier) 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.