arginase, liver (ARG1) - coding DNA reference sequence

(used for variant description)

(last modified July 25, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_000045.3 in the ARG1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007086.2, covering ARG1 transcript NM_000045.3.

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

 (upstream sequence)
                                                   .                g.4998
                                          ggaaaaaaaagatgcgccc       c.-61

 .         .         .         .         .         .                g.5058
 tctgtcactgagggttgactgactggagagctcaagtgcagcaaagagaagtgtcagagc       c.-1

          .         .         .         .         .        | 02.    g.8441
 ATGAGCGCCAAGTCCAGAACCATAGGGATTATTGGAGCTCCTTTCTCAAAGGGACAG | CCA    c.60
 M  S  A  K  S  R  T  I  G  I  I  G  A  P  F  S  K  G  Q   | P      p.20

          .         .         .         .         .         .       g.8501
 CGAGGAGGGGTGGAAGAAGGCCCTACAGTATTGAGAAAGGCTGGTCTGCTTGAGAAACTT       c.120
 R  G  G  V  E  E  G  P  T  V  L  R  K  A  G  L  L  E  K  L         p.40

          . | 03       .         .         .         .         .    g.10936
 AAAGAACAAG | AGTGTGATGTGAAGGATTATGGGGACCTGCCCTTTGCTGACATCCCTAAT    c.180
 K  E  Q  E |   C  D  V  K  D  Y  G  D  L  P  F  A  D  I  P  N      p.60

          .         .         .         .         .         .       g.10996
 GACAGTCCCTTTCAAATTGTGAAGAATCCAAGGTCTGTGGGAAAAGCAAGCGAGCAGCTG       c.240
 D  S  P  F  Q  I  V  K  N  P  R  S  V  G  K  A  S  E  Q  L         p.80

          .         .         .         .         .         .       g.11056
 GCTGGCAAGGTGGCAGAAGTCAAGAAGAACGGAAGAATCAGCCTGGTGCTGGGCGGAGAC       c.300
 A  G  K  V  A  E  V  K  K  N  G  R  I  S  L  V  L  G  G  D         p.100

       | 04  .         .         .         .         .         .    g.13049
 CACAG | TTTGGCAATTGGAAGCATCTCTGGCCATGCCAGGGTCCACCCTGATCTTGGAGTC    c.360
 H  S  |  L  A  I  G  S  I  S  G  H  A  R  V  H  P  D  L  G  V      p.120

          .         .         .         .         .         .       g.13109
 ATCTGGGTGGATGCTCACACTGATATCAACACTCCACTGACAACCACAAGTGGAAACTTG       c.420
 I  W  V  D  A  H  T  D  I  N  T  P  L  T  T  T  S  G  N  L         p.140

          .         .         .         .      | 05  .         .    g.14411
 CATGGACAACCTGTATCTTTCCTCCTGAAGGAACTAAAAGGAAAG | ATTCCCGATGTGCCA    c.480
 H  G  Q  P  V  S  F  L  L  K  E  L  K  G  K   | I  P  D  V  P      p.160

          .         .         .         .         .         .       g.14471
 GGATTCTCCTGGGTGACTCCCTGTATATCTGCCAAGGATATTGTGTATATTGGCTTGAGA       c.540
 G  F  S  W  V  T  P  C  I  S  A  K  D  I  V  Y  I  G  L  R         p.180

          .         . | 06       .         .         .         .    g.14875
 GACGTGGACCCTGGGGAACA | CTACATTTTGAAAACTCTAGGCATTAAATACTTTTCAATG    c.600
 D  V  D  P  G  E  H  |  Y  I  L  K  T  L  G  I  K  Y  F  S  M      p.200

          .         .         .         .         .         .       g.14935
 ACTGAAGTGGACAGACTAGGAATTGGCAAGGTGATGGAAGAAACACTCAGCTATCTACTA       c.660
 T  E  V  D  R  L  G  I  G  K  V  M  E  E  T  L  S  Y  L  L         p.220

       | 07  .         .         .         .         .         .    g.15185
 GGAAG | AAAGAAAAGGCCAATTCATCTAAGTTTTGATGTTGACGGACTGGACCCATCTTTC    c.720
 G  R  |  K  K  R  P  I  H  L  S  F  D  V  D  G  L  D  P  S  F      p.240

          .         .         .         .         .         .       g.15245
 ACACCAGCTACTGGCACACCAGTCGTGGGAGGTCTGACATACAGAGAAGGTCTCTACATC       c.780
 T  P  A  T  G  T  P  V  V  G  G  L  T  Y  R  E  G  L  Y  I         p.260

          .         .   | 08     .         .         .         .    g.15555
 ACAGAAGAAATCTACAAAACAG | GGCTACTCTCAGGATTAGATATAATGGAAGTGAACCCA    c.840
 T  E  E  I  Y  K  T  G |   L  L  S  G  L  D  I  M  E  V  N  P      p.280

          .         .         .         .         .         .       g.15615
 TCCCTGGGGAAGACACCAGAAGAAGTAACTCGAACAGTGAACACAGCAGTTGCAATAACC       c.900
 S  L  G  K  T  P  E  E  V  T  R  T  V  N  T  A  V  A  I  T         p.300

          .         .         .         .         .         .       g.15675
 TTGGCTTGTTTCGGACTTGCTCGGGAGGGTAATCACAAGCCTATTGACTACCTTAACCCA       c.960
 L  A  C  F  G  L  A  R  E  G  N  H  K  P  I  D  Y  L  N  P         p.320

                                                                    g.15684
 CCTAAGTAA                                                          c.969
 P  K  X                                                            p.322

          .         .         .         .         .         .       g.15744
 atgtggaaacatccgatataaatctcatagttaatggcataattagaaagctaatcattt       c.*60

          .         .         .         .         .         .       g.15804
 tcttaagcatagagttatccttctaaagacttgttctttcagaaaaatgtttttccaatt       c.*120

          .         .         .         .         .         .       g.15864
 agtataaactctacaaattccctcttggtgtaaaattcaagatgtggaaattctaacttt       c.*180

          .         .         .         .         .         .       g.15924
 tttgaaatttaaaagcttatattttctaacttggcaaaagacttatccttagaaagagaa       c.*240

          .         .         .         .         .         .       g.15984
 gtgtacattgatttccaattaaaaatttgctggcattaaaaataagcacacttacataag       c.*300

          .         .         .         .         .         .       g.16044
 cccccatacatagagtgggactcttggaatcaggagacaaagctaccacatgtggaaagg       c.*360

          .         .         .         .         .         .       g.16104
 tactatgtgtccatgtcattcaaaaaatgtgattttttataataaactctttataacaag       c.*420

                                                                    g.16108
 atta                                                               c.*424

 (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 Arginase, liver 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.