aspartylglucosaminidase (AGA) - coding DNA reference sequence

(used for variant description)

(last modified July 24, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_000027.3 in the AGA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011845.2, covering AGA transcript NM_000027.3.

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

 (upstream sequence)
                                                                    g.5008
                                                     agggacgc       c.-121

 .         .         .         .         .         .                g.5068
 ctgagcgaacccccgagagagcgggcgtgggcgccaggcgggcggggcactggggattaa       c.-61

 .         .         .         .         .         .                g.5128
 ttgttcggcgatcgctggctgccgggacttttctcgcgctggtctcttcggtggtcaggg       c.-1

          .         .         .         .         .         .       g.5188
 ATGGCGCGGAAGTCGAACTTGCCTGTGCTTCTCGTGCCGTTTCTGCTCTGCCAGGCCCTA       c.60
 M  A  R  K  S  N  L  P  V  L  L  V  P  F  L  L  C  Q  A  L         p.20

          .         .         .         .         .         .       g.5248
 GTGCGCTGCTCCAGCCCTCTGCCCCTGGTCGTCAACACTTGGCCCTTTAAGAATGCAACC       c.120
 V  R  C  S  S  P  L  P  L  V  V  N  T  W  P  F  K  N  A  T         p.40

         | 02.         .         .         .         .         .    g.7130
 GAAGCAG | CGTGGAGGGCATTAGCATCTGGAGGCTCTGCCCTGGATGCAGTGGAGAGCGGC    c.180
 E  A  A |   W  R  A  L  A  S  G  G  S  A  L  D  A  V  E  S  G      p.60

          .         .         .         .         .         .       g.7190
 TGTGCCATGTGTGAGAGAGAGCAGTGTGACGGCTCTGTAGGCTTTGGAGGAAGTCCTGAT       c.240
 C  A  M  C  E  R  E  Q  C  D  G  S  V  G  F  G  G  S  P  D         p.80

          .         .         .         .  | 03      .         .    g.7834
 GAACTTGGAGAAACCACACTAGATGCCATGATCATGGATGG | CACTACTATGGATGTAGGA    c.300
 E  L  G  E  T  T  L  D  A  M  I  M  D  G  |  T  T  M  D  V  G      p.100

          .         .         .         .         .         .       g.7894
 GCAGTAGGAGATCTCAGACGAATTAAAAATGCTATTGGTGTGGCACGGAAAGTACTGGAA       c.360
 A  V  G  D  L  R  R  I  K  N  A  I  G  V  A  R  K  V  L  E         p.120

          .         .         .     | 04   .         .         .    g.8672
 CATACAACACACACACTTTTAGTAGGAGAGTCAG | CCACCACATTTGCTCAAAGTATGGGG    c.420
 H  T  T  H  T  L  L  V  G  E  S  A |   T  T  F  A  Q  S  M  G      p.140

          .         .         .         .         .         .       g.8732
 TTTATCAATGAAGACTTATCTACCACTGCTTCTCAAGCTCTTCATTCAGATTGGCTTGCT       c.480
 F  I  N  E  D  L  S  T  T  A  S  Q  A  L  H  S  D  W  L  A         p.160

          .         .        | 05.         .         .         .    g.10017
 CGGAATTGCCAGCCAAATTATTGGAGG | AATGTTATACCAGATCCCTCAAAATACTGCGGA    c.540
 R  N  C  Q  P  N  Y  W  R   | N  V  I  P  D  P  S  K  Y  C  G      p.180

          .         .         .         .         .         .       g.10077
 CCCTACAAACCACCTGGTATCTTAAAGCAGGATATTCCTATCCATAAAGAAACAGAAGAT       c.600
 P  Y  K  P  P  G  I  L  K  Q  D  I  P  I  H  K  E  T  E  D         p.200

          .         .   | 06     .         .         .         .    g.11190
 GATCGTGGTCATGACACTATTG | GCATGGTTGTAATCCATAAGACAGGACATATTGCTGCT    c.660
 D  R  G  H  D  T  I  G |   M  V  V  I  H  K  T  G  H  I  A  A      p.220

          .         .         .         | 07         .         .    g.13036
 GGTACATCTACAAATGGTATAAAATTCAAAATACATGG | CCGTGTAGGAGACTCACCAATA    c.720
 G  T  S  T  N  G  I  K  F  K  I  H  G  |  R  V  G  D  S  P  I      p.240

          .         .         .         .         .         .       g.13096
 CCTGGAGCTGGAGCCTATGCTGACGATACTGCAGGGGCAGCCGCAGCCACTGGGAATGGT       c.780
 P  G  A  G  A  Y  A  D  D  T  A  G  A  A  A  A  T  G  N  G         p.260

          .         .       | 08 .         .         .         .    g.14190
 GATATATTGATGCGCTTCCTGCCAAG | CTACCAAGCTGTAGAATACATGAGAAGAGGAGAA    c.840
 D  I  L  M  R  F  L  P  S  |  Y  Q  A  V  E  Y  M  R  R  G  E      p.280

          .         .         .         .         .         .       g.14250
 GATCCAACCATAGCTTGCCAAAAAGTGATTTCAAGAATCCAGAAGCATTTTCCAGAATTC       c.900
 D  P  T  I  A  C  Q  K  V  I  S  R  I  Q  K  H  F  P  E  F         p.300

          .         .         .         . | 09       .         .    g.15715
 TTTGGGGCTGTTATATGTGCCAATGTGACTGGAAGTTACG | GTGCTGCTTGCAATAAACTT    c.960
 F  G  A  V  I  C  A  N  V  T  G  S  Y  G |   A  A  C  N  K  L      p.320

          .         .         .         .         .         .       g.15775
 TCAACATTTACTCAGTTTAGTTTCATGGTTTATAATTCCGAAAAAAATCAGCCAACTGAG       c.1020
 S  T  F  T  Q  F  S  F  M  V  Y  N  S  E  K  N  Q  P  T  E         p.340

          .         .                                               g.15796
 GAAAAAGTGGACTGCATCTAA                                              c.1041
 E  K  V  D  C  I  X                                                p.346

          .         .         .         .         .         .       g.15856
 tccatctttactgtcaacatctgtatttaaagaagaaagaaacaaaggctgaaaaggctg       c.*60

          .         .         .         .         .         .       g.15916
 ctcactctcatcatctagtgttcctcatgtgttctaaagtctttttgtaaaataaacaca       c.*120

          .         .         .         .         .         .       g.15976
 aaaataaatttatgttgaattggcactttctatatctgaaattgtattatctatttttat       c.*180

          .         .         .         .         .         .       g.16036
 ttaacctttcttatattatctgaagatgaatatgtatgtggctgtattttgtatatattt       c.*240

          .         .         .         .         .         .       g.16096
 aagttttaagtgacacttggatttctgatcagtgttgcaaaaaattgctactttgagatt       c.*300

          .         .         .         .         .         .       g.16156
 tatttccacagtgatatattaaacccaaaaggaatcatcatatttggatgcttaaaatag       c.*360

          .         .         .         .         .         .       g.16216
 agtatacaagttttttagacccaaagaaaaaaacagcagagtctcagcatgatcagtcct       c.*420

          .         .         .         .         .         .       g.16276
 gattgaatttcattatgtcacagtgatgcatgtcttagcactgattattggttttactta       c.*480

          .         .         .         .         .         .       g.16336
 atattccctaaaaacttgaggaaggaagatgatagaacatgagatactctttgttttgta       c.*540

          .         .         .         .         .         .       g.16396
 catactagaaaatacagctatcttctgatgagcaattgtgttgattttctttgctttttt       c.*600

          .         .         .         .         .         .       g.16456
 cctcttatggagctctcagtgtgtgaaagttctaaagccacaagaatcaatgatgtttta       c.*660

          .         .         .         .         .         .       g.16516
 gctgctaatatttagtattgatcgtttcttttaaaaatgatttggggaacttgatctgta       c.*720

          .         .         .         .         .         .       g.16576
 ctgtaattttactaattccttgtgcagaggtgggtatggcaattagaagtcaagaaatgg       c.*780

          .         .         .         .         .         .       g.16636
 gttgtttagcttggtttgtttccctaacttctgattaactctctgtatgacaactctaca       c.*840

          .         .         .         .         .         .       g.16696
 gaagttgtgcgcgtgctttctcagcagcatttttccttcaaaatcatctttttaatcaac       c.*900

          .         .         .                                     g.16730
 agtcattaataaatgtacatgtacgatattcaaa                                 c.*934

 (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 Aspartylglucosaminidase 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.