fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH) - coding DNA reference sequence

(used for variant description)

(last modified June 23, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_000137.2 in the FAH gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012833.1, covering FAH transcript NM_000137.2.

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

 (upstream sequence)
                     .         .         .         .                g.4936
                 gagaccaaaagtcaggtaggagcctccggggtccctgctgtgtc       c.-121

 .         .         .         .         .         .                g.4996
 acccggacaggccgtgggggcgggcaggggggcggggccgggcctgaccacagcggccga       c.-61

 .         .         .         .         .         .                g.5056
 gttcagtcctgctctccgcacgccaccttaggcccgcagccgtgccgggtgctcttcagc       c.-1

          .         .         .         .         .         .       g.5116
 ATGTCCTTCATCCCGGTGGCCGAGGATTCCGACTTCCCCATCCACAACCTGCCCTACGGC       c.60
 M  S  F  I  P  V  A  E  D  S  D  F  P  I  H  N  L  P  Y  G         p.20

          .         .  | 02      .         .         .         .    g.10100
 GTCTTCTCGACCAGAGGCGAC | CCAAGACCGAGGATAGGTGTGGCCATTGGCGACCAGATC    c.120
 V  F  S  T  R  G  D   | P  R  P  R  I  G  V  A  I  G  D  Q  I      p.40

          .         .         .         .         .         .       g.10160
 CTGGACCTCAGCATCATCAAGCACCTCTTTACTGGTCCTGTCCTCTCCAAACACCAGGAT       c.180
 L  D  L  S  I  I  K  H  L  F  T  G  P  V  L  S  K  H  Q  D         p.60

          .   | 03     .         .         .         .         .    g.11805
 GTCTTCAATCAG | CCTACACTCAACAGCTTCATGGGCCTGGGTCAGGCTGCCTGGAAGGAG    c.240
 V  F  N  Q   | P  T  L  N  S  F  M  G  L  G  Q  A  A  W  K  E      p.80

          .         .         .         .         .         .       g.11865
 GCGAGAGTGTTCTTGCAGAACTTGCTGTCTGTGAGCCAAGCCAGGCTCAGAGATGACACC       c.300
 A  R  V  F  L  Q  N  L  L  S  V  S  Q  A  R  L  R  D  D  T         p.100

          .     | 04   .         .         .         .         .    g.12457
 GAACTTCGGAAGTG | TGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACC    c.360
 E  L  R  K  C  |  A  F  I  S  Q  A  S  A  T  M  H  L  P  A  T      p.120

      | 05   .         .         .         .         .         .    g.14303
 ATAG | GAGACTACACAGACTTCTATTCCTCTCGGCAGCATGCTACCAACGTCGGAATCATG    c.420
 I  G |   D  Y  T  D  F  Y  S  S  R  Q  H  A  T  N  V  G  I  M      p.140

          .         .         .      | 06  .         .         .    g.20078
 TTCAGGGACAAGGAGAATGCGTTGATGCCAAATTG | GCTGCACTTACCAGTGGGCTACCAT    c.480
 F  R  D  K  E  N  A  L  M  P  N  W  |  L  H  L  P  V  G  Y  H      p.160

          .         .         .         .         .         .       g.20138
 GGCCGTGCCTCCTCTGTCGTGGTGTCTGGCACCCCAATCCGAAGGCCCATGGGACAGATG       c.540
 G  R  A  S  S  V  V  V  S  G  T  P  I  R  R  P  M  G  Q  M         p.180

          .    | 07    .         .         .         .         .    g.20312
 AAACCTGATGACT | CTAAGCCTCCCGTATATGGTGCCTGCAAGCTCTTGGACATGGAGCTG    c.600
 K  P  D  D  S |   K  P  P  V  Y  G  A  C  K  L  L  D  M  E  L      p.200

        | 08 .         .         .         .         .         .    g.24204
 GAAATG | GCTTTTTTTGTAGGCCCTGGAAACAGATTGGGAGAGCCGATCCCCATTTCCAAG    c.660
 E  M   | A  F  F  V  G  P  G  N  R  L  G  E  P  I  P  I  S  K      p.220

          .         .         .         .       | 09 .         .    g.25029
 GCCCATGAGCACATTTTTGGAATGGTCCTTATGAACGACTGGAGTG | CACGAGACATTCAG    c.720
 A  H  E  H  I  F  G  M  V  L  M  N  D  W  S  A |   R  D  I  Q      p.240

          .         .         .         .         .         .       g.25089
 AAGTGGGAGTATGTCCCTCTCGGGCCATTCCTTGGGAAGAGTTTTGGGACCACTGTCTCT       c.780
 K  W  E  Y  V  P  L  G  P  F  L  G  K  S  F  G  T  T  V  S         p.260

          .         .         .         .         .        | 10.    g.27020
 CCGTGGGTGGTGCCCATGGATGCTCTCATGCCCTTTGCTGTGCCCAACCCGAAGCAG | GAC    c.840
 P  W  V  V  P  M  D  A  L  M  P  F  A  V  P  N  P  K  Q   | D      p.280

          .         .         .         .         .         .       g.27080
 CCCAGGCCCCTGCCGTATCTGTGCCATGACGAGCCCTACACATTTGACATCAACCTCTCT       c.900
 P  R  P  L  P  Y  L  C  H  D  E  P  Y  T  F  D  I  N  L  S         p.300

          .    | 11    .         .         .         .         .    g.29585
 GTTAACCTGAAAG | GAGAAGGAATGAGCCAGGCGGCTACCATATGCAAGTCCAATTTTAAG    c.960
 V  N  L  K  G |   E  G  M  S  Q  A  A  T  I  C  K  S  N  F  K      p.320

  | 12       .         .         .         .         .         .    g.32185
  | TACATGTACTGGACGATGCTGCAGCAGCTCACTCACCACTCTGTCAACGGCTGCAACCTG    c.1020
  | Y  M  Y  W  T  M  L  Q  Q  L  T  H  H  S  V  N  G  C  N  L      p.340

          .         .         .         .   | 13     .         .    g.33061
 CGGCCGGGGGACCTCCTGGCTTCTGGGACCATCAGCGGGCCG | GAGCCAGAAAACTTCGGC    c.1080
 R  P  G  D  L  L  A  S  G  T  I  S  G  P   | E  P  E  N  F  G      p.360

          .         .         .         .         .         .       g.33121
 TCCATGTTGGAACTGTCGTGGAAGGGAACGAAGCCCATAGACCTGGGGAATGGTCAGACC       c.1140
 S  M  L  E  L  S  W  K  G  T  K  P  I  D  L  G  N  G  Q  T         p.380

          .         .         .         . | 14       .         .    g.38151
 AGGAAGTTTCTGCTGGACGGGGATGAAGTCATCATAACAG | GGTACTGCCAGGGGGATGGT    c.1200
 R  K  F  L  L  D  G  D  E  V  I  I  T  G |   Y  C  Q  G  D  G      p.400

          .         .         .         .         .         .       g.38211
 TACCGCATCGGCTTTGGCCAGTGTGCTGGAAAAGTGCTGCCTGCTCTCCTGCCATCATGA       c.1260
 Y  R  I  G  F  G  Q  C  A  G  K  V  L  P  A  L  L  P  S  X         p.419

          .         .         .         .         .         .       g.38271
 gattttctctgctcttctggaaacaaagggctcaagcacccctttcaaccctgtgactgg       c.*60

          .         .         .         .         .         .       g.38331
 ggtcctccctcgggctgtaggcctggtccgccattcagtgacaaataaagccattgtgct       c.*120

          .         .         .         .         .         .       g.38391
 ctgaggcctgcactgccgcagatgcagctgtgtccacttatgatcgtgatttgatccagt       c.*180

          .         .         .         .         .         .       g.38451
 gggtcaaggtgtgtaaagcctccctgccagatattcattaatatgttttctcactcttat       c.*240

          .         .         .         .         .         .       g.38511
 tagtgaggtcaggggtctttgtgggattttcttattagacatcccaggcctcctggtatt       c.*300

          .         .         .         .         .         .       g.38571
 ccatggaatttgaaaagagactggcacctgtagtagtcagggctctccagagaaatagaa       c.*360

          .                                                         g.38584
 ccaaggagaaaga                                                      c.*373

 (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 Fumarylacetoacetate hydrolase (fumarylacetoacetase) 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.