N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1) - coding DNA reference sequence

(used for mutation description)

(last modified October 27, 2012)


This file was created to facilitate the description of sequence variants in the ASAH1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008985.1, covering ASAH1 transcript NM_004315.4.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5017
                                            agtgcaacccagagggc       c.-181

 .         .         .         .         .         .                g.5077
 aggatttcctgctggactttgaaatccaacccggtcacctacccgcgcgactgtgtccac       c.-121

 .         .         .         .         .         .                g.5137
 ggatggcacgaaagccaagcgagtccccctgccgagctactcgcgtccgcctcctcccaa       c.-61

 .         .         .         .         .         .                g.5197
 gctgagctctgctccgcccacctgagtccttcgccagttaggaggaaacacagccgctta       c.-1

          .         .         .         .         .         .       g.5257
 ATGAACTGCTGCATCGGGCTGGGAGAGAAAGCTCGCGGGTCCCACCGGGCCTCCTACCCA       c.60
 M  N  C  C  I  G  L  G  E  K  A  R  G  S  H  R  A  S  Y  P         p.20

          .         .         .         .         .         .       g.5317
 AGTCTCAGCGCGCTTTTCACCGAGGCCTCAATTCTGGGATTTGGCAGCTTTGCTGTGAAA       c.120
 S  L  S  A  L  F  T  E  A  S  I  L  G  F  G  S  F  A  V  K         p.40

        | 02 .         .         .         .         .    | 03    . g.18615
 GCCCAA | TGGACAGAGGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAAC | GTACAGA c.180
 A  Q   | W  T  E  D  C  R  K  S  T  Y  P  P  S  G  P  T  |  Y  R   p.60

          .         .         .         .         .         .       g.18675
 GGTGCAGTTCCATGGTACACCATAAATCTTGACTTACCACCCTACAAAAGATGGCATGAA       c.240
 G  A  V  P  W  Y  T  I  N  L  D  L  P  P  Y  K  R  W  H  E         p.80

          .         .     | 04   .         .         .         .    g.20156
 TTGATGCTTGACAAGGCACCAGTG | CTAAAGGTTATAGTGAATTCTCTGAAGAATATGATA    c.300
 L  M  L  D  K  A  P  V   | L  K  V  I  V  N  S  L  K  N  M  I      p.100

          .         .         .         .         .  | 05      .    g.22709
 AATACATTCGTGCCAAGTGGAAAAATTATGCAGGTGGTGGATGAAAAATTG | CCTGGCCTA    c.360
 N  T  F  V  P  S  G  K  I  M  Q  V  V  D  E  K  L   | P  G  L      p.120

          .         .         .         .         .         .       g.22769
 CTTGGCAACTTTCCTGGCCCTTTTGAAGAGGAAATGAAGGGTATTGCCGCTGTTACTGAT       c.420
 L  G  N  F  P  G  P  F  E  E  E  M  K  G  I  A  A  V  T  D         p.140

          . | 06       .         .         .         .         .    g.25517
 ATACCTTTAG | GAGAGATTATTTCATTCAATATTTTTTATGAATTATTTACCATTTGTACT    c.480
 I  P  L  G |   E  I  I  S  F  N  I  F  Y  E  L  F  T  I  C  T      p.160

          .         .      | 07  .         .         .         .    g.26803
 TCAATAGTAGCAGAAGACAAAAAAG | GTCATCTAATACATGGGAGAAACATGGATTTTGGA    c.540
 S  I  V  A  E  D  K  K  G |   H  L  I  H  G  R  N  M  D  F  G      p.180

          .  | 08      .         .         .         .         .    g.27624
 GTATTTCTTGG | GTGGAACATAAATAATGATACCTGGGTCATAACTGAGCAACTAAAACCT    c.600
 V  F  L  G  |  W  N  I  N  N  D  T  W  V  I  T  E  Q  L  K  P      p.200

          .         .         .         .         .         .       g.27684
 TTAACAGTGAATTTGGATTTCCAAAGAAACAACAAAACTGTCTTCAAGGCTTCAAGCTTT       c.660
 L  T  V  N  L  D  F  Q  R  N  N  K  T  V  F  K  A  S  S  F         p.220

          .         .         .       | 09 .         .         .    g.28282
 GCTGGCTATGTGGGCATGTTAACAGGATTCAAACCA | GGACTGTTCAGTCTTACACTGAAT    c.720
 A  G  Y  V  G  M  L  T  G  F  K  P   | G  L  F  S  L  T  L  N      p.240

          .         .         .  | 10      .         .         .    g.28569
 GAACGTTTCAGTATAAATGGTGGTTATCTGG | GTATTCTAGAATGGATTCTGGGAAAGAAA    c.780
 E  R  F  S  I  N  G  G  Y  L  G |   I  L  E  W  I  L  G  K  K      p.260

          .         .         .         .         .    | 11    .    g.30302
 GATGTCATGTGGATAGGGTTCCTCACTAGAACAGTTCTGGAAAATAGCACAAG | TTATGAA    c.840
 D  V  M  W  I  G  F  L  T  R  T  V  L  E  N  S  T  S  |  Y  E      p.280

          .         .         .         .         .         .       g.30362
 GAAGCCAAGAATTTATTGACCAAGACCAAGATATTGGCCCCAGCCTACTTTATCCTGGGA       c.900
 E  A  K  N  L  L  T  K  T  K  I  L  A  P  A  Y  F  I  L  G         p.300

          .         .         .         .         .         .       g.30422
 GGCAACCAGTCTGGGGAAGGTTGTGTGATTACACGAGACAGAAAGGAATCATTGGATGTA       c.960
 G  N  Q  S  G  E  G  C  V  I  T  R  D  R  K  E  S  L  D  V         p.320

       | 12  .         .         .         .         .         .    g.30589
 TATGA | ACTCGATGCTAAGCAGGGTAGATGGTATGTGGTACAAACAAATTATGACCGTTGG    c.1020
 Y  E  |  L  D  A  K  Q  G  R  W  Y  V  V  Q  T  N  Y  D  R  W      p.340

          .         .         .         .         .         .       g.30649
 AAACATCCCTTCTTCCTTGATGATCGCAGAACGCCTGCAAAGATGTGTCTGAACCGCACC       c.1080
 K  H  P  F  F  L  D  D  R  R  T  P  A  K  M  C  L  N  R  T         p.360

           | 13        .         .         .         .         .    g.31158
 AGCCAAGAG | AATATCTCATTTGAAACCATGTATGATGTCCTGTCAACAAAACCTGTCCTC    c.1140
 S  Q  E   | N  I  S  F  E  T  M  Y  D  V  L  S  T  K  P  V  L      p.380

        | 14 .         .         .         .         .         .    g.32429
 AACAAG | CTGACCGTATACACAACCTTGATAGATGTTACCAAAGGTCAATTCGAAACTTAC    c.1200
 N  K   | L  T  V  Y  T  T  L  I  D  V  T  K  G  Q  F  E  T  Y      p.400

          .         .         .                                     g.32465
 CTGCGGGACTGCCCTGACCCTTGTATAGGTTGGTGA                               c.1236
 L  R  D  C  P  D  P  C  I  G  W  X                                 p.411

          .         .         .         .         .         .       g.32525
 gcacacgtctggcctacagaatgcggcctctgagacatgaagacaccatctccatgtgac       c.*60

          .         .         .         .         .         .       g.32585
 cgaacactgcagctgtctgaccttccaaagactaagactcgcggcaggttctctttgagt       c.*120

          .         .         .         .         .         .       g.32645
 caatagcttgtcttcgtccatctgttgacaaatgacagatcttttttttttccccctatc       c.*180

          .         .         .         .         .         .       g.32705
 agttgatttttcttatttacagataacttctttaggggaagtaaaacagtcatctagaat       c.*240

          .         .         .         .         .         .       g.32765
 tcactgagttttgtttcactttgacatttggggatctggtgggcagtcgaaccatggtga       c.*300

          .         .         .         .         .         .       g.32825
 actccacctccgtggaataaatggagattcagcgtgggtgttgaatccagcacgtctgtg       c.*360

          .         .         .         .         .         .       g.32885
 tgagtaacgggacagtaaacactccacattcttcagtttttcacttctacctacatattt       c.*420

          .         .         .         .         .         .       g.32945
 gtatgtttttctgtataacagccttttccttctggttctaactgctgttaaaattaatat       c.*480

          .         .         .         .         .         .       g.33005
 atcattatctttgctgttattgacagcgatataattttattacatatgattagagggatg       c.*540

          .         .         .         .         .         .       g.33065
 agacagacattcacctgtatatttcttttaatgggcacaaaatgggcccttgcctctaaa       c.*600

          .         .         .         .         .         .       g.33125
 tagcactttttggggttcaagaagtaatcagtatgcaaagcaatcttttatacaataatt       c.*660

          .         .         .         .         .         .       g.33185
 gaagtgttccctttttcataattactctacttcccagtaaccctaaggaagttgctaact       c.*720

          .         .         .         .         .         .       g.33245
 taaaaaactgcatcccacgttctgttaatttagtaaataaacaagtcaaagacttgtgga       c.*780

          .         .         .         .         .         .       g.33305
 aaataggaagtgaacccatattttaaattctcataagtagcattcatgtaataaacaggt       c.*840

          .         .         .         .         .         .       g.33365
 ttttagtttgttcttcagattgatagggagttttaaagaaattttagtagttactaaaat       c.*900

          .         .         .         .         .         .       g.33425
 tatgttactgtatttttcagaaatcaaactgcttatgaaaagtactaatagaacttgtta       c.*960

          .         .         .         .         .         .       g.33485
 acctttctaaccttcacgattaactgtgaaatgtacgtcatttgtgcaagaccgtttgtc       c.*1020

          .         .         .         .         .         .       g.33545
 cacttcattttgtataatcacagttgtgttcctgacactcaataaacagtcactggaaag       c.*1080

          .         .         .                                     g.33583
 agtgccagtcagcagtcatgcacgctgattgggtgtgt                             c.*1118

 (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 10th nucleotide is indicated by a "." above the sequence. The N-acylsphingosine amidohydrolase (acid ceramidase) 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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