aspartoacylase (ASPA) - coding DNA reference sequence

(used for variant description)

(last modified November 16, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_000049.2 in the ASPA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008399.1, covering ASPA transcript NM_000049.2.

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

 (upstream sequence)
                               .         .         .                g.6930
                       ttgtaacagaaaattaaaatatactccactcaagggaa       c.-121

 .         .         .         .         .         .                g.6990
 ttctgtactttgccctttgggtaaagtctcatttacatttctaaacctttcttaagaaaa       c.-61

 .         .         .         .         .         .                g.7050
 tcgaatttcctttgatctctcttctgaattgcagaaatcagataaaaactacttggtgaa       c.-1

          .         .         .         .         .         .       g.7110
 ATGACTTCTTGTCACATTGCTGAAGAACATATACAAAAGGTTGCTATCTTTGGAGGAACC       c.60
 M  T  S  C  H  I  A  E  E  H  I  Q  K  V  A  I  F  G  G  T         p.20

          .         .         .         .         .         .       g.7170
 CATGGGAATGAGCTAACCGGAGTATTTCTGGTTAAGCATTGGCTAGAGAATGGCGCTGAG       c.120
 H  G  N  E  L  T  G  V  F  L  V  K  H  W  L  E  N  G  A  E         p.40

          .         .         .         .         .         .       g.7230
 ATTCAGAGAACAGGGCTGGAGGTAAAACCATTTATTACTAACCCCAGAGCAGTGAAGAAG       c.180
 I  Q  R  T  G  L  E  V  K  P  F  I  T  N  P  R  A  V  K  K         p.60

          .         .         .         .         .       | 02 .    g.12497
 TGTACCAGATATATTGACTGTGACCTGAATCGCATTTTTGACCTTGAAAATCTTGG | CAAA    c.240
 C  T  R  Y  I  D  C  D  L  N  R  I  F  D  L  E  N  L  G  |  K      p.80

          .         .         .         .         .         .       g.12557
 AAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTT       c.300
 K  M  S  E  D  L  P  Y  E  V  R  R  A  Q  E  I  N  H  L  F         p.100

          .         .         .         .         .         .       g.12617
 GGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCT       c.360
 G  P  K  D  S  E  D  S  Y  D  I  I  F  D  L  H  N  T  T  S         p.120

          .         .         .         .         .         .       g.12677
 AACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTT       c.420
 N  M  G  C  T  L  I  L  E  D  S  R  N  N  F  L  I  Q  M  F         p.140

          .   | 03     .         .         .         .         .    g.14437
 CATTACATTAAG | ACTTCTCTGGCTCCACTACCCTGCTACGTTTATCTGATTGAGCATCCT    c.480
 H  Y  I  K   | T  S  L  A  P  L  P  C  Y  V  Y  L  I  E  H  P      p.160

          .         .         .         .       | 04 .         .    g.20139
 TCCCTCAAATATGCGACCACTCGTTCCATAGCCAAGTATCCTGTGG | GTATAGAAGTTGGT    c.540
 S  L  K  Y  A  T  T  R  S  I  A  K  Y  P  V  G |   I  E  V  G      p.180

          .         .         .         .         .         .       g.20199
 CCTCAGCCTCAAGGGGTTCTGAGAGCTGATATCTTGGATCAAATGAGAAAAATGATTAAA       c.600
 P  Q  P  Q  G  V  L  R  A  D  I  L  D  Q  M  R  K  M  I  K         p.200

          .         .         .     | 05   .         .         .    g.25266
 CATGCTCTTGATTTTATACATCATTTCAATGAAG | GAAAAGAATTTCCTCCCTGCGCCATT    c.660
 H  A  L  D  F  I  H  H  F  N  E  G |   K  E  F  P  P  C  A  I      p.220

          .         .         .         .         .         .       g.25326
 GAGGTCTATAAAATTATAGAGAAAGTTGATTACCCCCGGGATGAAAATGGAGAAATTGCT       c.720
 E  V  Y  K  I  I  E  K  V  D  Y  P  R  D  E  N  G  E  I  A         p.240

          .         .     | 06   .         .         .         .    g.29817
 GCTATCATCCATCCTAATCTGCAG | GATCAAGACTGGAAACCACTGCATCCTGGGGATCCC    c.780
 A  I  I  H  P  N  L  Q   | D  Q  D  W  K  P  L  H  P  G  D  P      p.260

          .         .         .         .         .         .       g.29877
 ATGTTTTTAACTCTTGATGGGAAGACGATCCCACTGGGCGGAGACTGTACCGTGTACCCC       c.840
 M  F  L  T  L  D  G  K  T  I  P  L  G  G  D  C  T  V  Y  P         p.280

          .         .         .         .         .         .       g.29937
 GTGTTTGTGAATGAGGCCGCATATTACGAAAAGAAAGAAGCTTTTGCAAAGACAACTAAA       c.900
 V  F  V  N  E  A  A  Y  Y  E  K  K  E  A  F  A  K  T  T  K         p.300

          .         .         .         .                           g.29979
 CTAACGCTCAATGCAAAAAGTATTCGCTGCTGTTTACATTAG                         c.942
 L  T  L  N  A  K  S  I  R  C  C  L  H  X                           p.313

          .         .         .         .         .         .       g.30039
 aaatcacttccagcttacatcttacacggtgtcttacaaattctgctagtctgtaagctc       c.*60

          .         .         .         .         .         .       g.30099
 cttaagagtagggttgtgccttattcaactgcatacatagctcctagcacagtgccttat       c.*120

          .         .         .         .         .         .       g.30159
 tcggtaggcatctaagcacatttcttaaattaattaatatatctttaaagatatcatatt       c.*180

          .         .         .         .         .         .       g.30219
 ttatgtatgtagcttattcaaagaagtgtttcctatttctatatagtttattatacatga       c.*240

          .         .         .         .         .         .       g.30279
 tacttgggtagctcaacattcttaataaacagcctttgtattcagaatataaaattgaaa       c.*300

          .                                                         g.30297
 tagatatatataaagtta                                                 c.*318

 (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 Aspartoacylase 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.