homogentisate 1,2-dioxygenase (HGD) - coding DNA reference sequence

(used for mutation description)

(last modified March 23, 2021)

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

The sequence was taken from VERSION NC_000003.12, covering HGD transcript NM_000187.4.

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

 (upstream sequence)
 g.324
 agtgaagc c.-121
 . . . . . . g.384
 gcagtgaagcagtgggaaccggaatatccaaagagtggtttgaaggagaaagaagcattg c.-61
 . . . . . . g.444
 tggctttatatcctctgggcctgggtttcctgaagtcaccacacatagaggagagagaaa c.-1
 . | 02 . . . . . g.6737
 ATGGCTGAGTTAAAG | TACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGC c.60
 M A E L K | Y I S G F G N E C S S E D P R p.20
 . . | 03. . . . g.7599
 TGCCCAGGTTCCCTGCCAGAAGGACAG | AATAATCCTCAGGTCTGCCCCTACAATCTCTAT c.120
 C P G S L P E G Q | N N P Q V C P Y N L Y p.40
 . . . . . | 04 . g.12027
 GCTGAGCAGCTCTCAGGATCGGCTTTCACTTGTCCACGGAGCACCAATAAGAGAAG | CTGG c.180
 A E Q L S G S A F T C P R S T N K R S | W p.60
 . . . . . . g.12087
 CTGTATAGGATTCTACCTTCAGTTTCTCACAAGCCCTTTGAATCCATTGACGAAGGCCAA c.240
 L Y R I L P S V S H K P F E S I D E G Q p.80
 . . . . | 05 . . g.29922
 GTCACTCACAACTGGGATGAAGTTGATCCTGATCCTAACCAG | CTTAGATGGAAACCATTT c.300
 V T H N W D E V D P D P N Q | L R W K P F p.100
 . . . . | 06 . . g.31708
 GAGATTCCAAAAGCATCTCAGAAGAAAGTAGACTTTGTGAGT | GGCCTGCATACCTTGTGT c.360
 E I P K A S Q K K V D F V S | G L H T L C p.120
 . . . . . . g.31768
 GGAGCTGGAGACATAAAGTCTAACAATGGGCTTGCTATCCACATTTTCCTCTGCAATACC c.420
 G A G D I K S N N G L A I H I F L C N T p.140
 . | 07 . . . | 08 . g.35514
 TCCATGGAGAACAG | ATGCTTTTACAATTCAGATGGGGACTTCTTGATTG | TTCCGCAGAAA c.480
 S M E N R | C F Y N S D G D F L I V | P Q K p.160
 . . . . . . g.35574
 GGGAACCTTCTCATTTACACCGAGTTTGGCAAGATGCTTGTACAGCCCAATGAGATCTGC c.540
 G N L L I Y T E F G K M L V Q P N E I C p.180
 | 09 . . . . . g.36240
 GTCATTCAG | AGAGGAATGCGGTTCAGCATAGATGTCTTTGAGGAGACCAGGGGCTACATC c.600
 V I Q | R G M R F S I D V F E E T R G Y I p.200
 . . . . | 10 . g.38123
 TTGGAGGTCTATGGTGTCCACTTTGAGTTACCTGACCTTGGACCAATTG | GGGCCAATGGC c.660
 L E V Y G V H F E L P D L G P I G | A N G p.220
 . . . . . . g.38183
 TTGGCCAATCCTCGTGATTTCTTGATACCCATTGCCTGGTATGAGGATCGCCAAGTACCA c.720
 L A N P R D F L I P I A W Y E D R Q V P p.240
 . . . . . | 11 . g.40868
 GGTGGTTACACGGTCATTAATAAATACCAGGGCAAGCTGTTTGCTGCCAAACAG | GATGTC c.780
 G G Y T V I N K Y Q G K L F A A K Q | D V p.260
 . . . . . . g.40928
 TCCCCGTTCAATGTTGTGGCCTGGCACGGGAATTATACACCCTACAAGTACAACCTGAAG c.840
 S P F N V V A W H G N Y T P Y K Y N L K p.280
 . . . | 12 . . g.43995
 AATTTCATGGTTATCAACTCAGTGGCCTTTGACCATGCA | GACCCATCCATTTTCACAGTA c.900
 N F M V I N S V A F D H A | D P S I F T V p.300
 . . . . . . g.44055
 TTGACTGCTAAGTCTGTCCGCCCTGGAGTGGCCATTGCTGATTTTGTCATCTTCCCACCT c.960
 L T A K S V R P G V A I A D F V I F P P p.320
 . . . . | 13 . . g.49241
 CGATGGGGGGTTGCTGATAAGACCTTCAGGCCTCCTTATTACCATA | GGAACTGCATGAGT c.1020
 R W G V A D K T F R P P Y Y H R | N C M S p.340
 . . . . . . g.49301
 GAGTTCATGGGACTCATCCGAGGTCACTATGAGGCAAAGCAAGGTGGGTTCCTGCCAGGG c.1080
 E F M G L I R G H Y E A K Q G G F L P G p.360
 . . . . . . g.49361
 GGAGGGAGTCTACACAGCACAATGACCCCCCATGGACCTGATGCTGACTGCTTTGAGAAG c.1140
 G G S L H S T M T P H G P D A D C F E K p.380
 . . . . | 14 . g.54038
 GCCAGCAAGGTCAAGCTGGCACCTGAGAGGATTGCCGATGGCACCATG | GCATTTATGTTT c.1200
 A S K V K L A P E R I A D G T M | A F M F p.400
 . . . . . . g.54098
 GAATCATCTTTAAGTCTGGCGGTCACAAAGTGGGGACTCAAGGCCTCCAGGTGTTTGGAT c.1260
 E S S L S L A V T K W G L K A S R C L D p.420
 . . . . . . g.54158
 GAGAACTACCACAAGTGCTGGGAGCCACTCAAGAGCCACTTCACTCCCAACTCCAGGAAC c.1320
 E N Y H K C W E P L K S H F T P N S R N p.440
 . g.54176
 CCAGCAGAACCTAATTGA c.1338
 P A E P N X p.445
 . . . . . . g.54236
 gactggaacattgctaccataattaagagtagatttgtgaagatttcttcagaatctcat c.*60
 . . . . . . g.54296
 gctttctggtagtattggaggagggggttggttaaaatgaaaattcacttttcatagtca c.*120
 . . . . . . g.54356
 agtaactcagaacttttatggaaacgcatttgcaaagttctatggctgtcaccttaatta c.*180
 . . g.54384
 ctcaataaacttgctggtgttctgtgga c.*208
 (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 Homogentisate 1,2-dioxygenase 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.