enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1) - coding DNA reference sequence

(used for variant description)

(last modified July 9, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_004092.3 in the ECHS1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_042077.1, covering ECHS1 transcript NM_004092.3.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                                                   .                g.5011
                                                  gcggagcgagc       c.-61

 .         .         .         .         .         .                g.5071
 cctgaaaggctataggcgagggggcggctccgcggggccgggcgaggagtccagagagcc       c.-1

          .         .         .         .         .         .       g.5131
 ATGGCCGCCCTGCGTGTCCTGCTGTCCTGCGTCCGCGGCCCGCTGAGGCCCCCGGTTCGC       c.60
 M  A  A  L  R  V  L  L  S  C  V  R  G  P  L  R  P  P  V  R         p.20

          .         .         | 02         .         .         .    g.7679
 TGTCCCGCCTGGCGTCCCTTCGCCTCGG | GTGCTAACTTTGAGTACATCATCGCAGAAAAA    c.120
 C  P  A  W  R  P  F  A  S  G |   A  N  F  E  Y  I  I  A  E  K      p.40

          .         .         .         .         .         .       g.7739
 AGAGGGAAGAATAACACCGTGGGGTTGATCCAACTGAACCGCCCCAAGGCCCTCAATGCA       c.180
 R  G  K  N  N  T  V  G  L  I  Q  L  N  R  P  K  A  L  N  A         p.60

          .         .         .         .         .         .       g.7799
 CTTTGCGATGGCCTGATTGACGAGCTCAACCAGGCCCTGAAGACCTTCGAGGAGGACCCG       c.240
 L  C  D  G  L  I  D  E  L  N  Q  A  L  K  T  F  E  E  D  P         p.80

          .         .         .         .       | 03 .         .    g.8387
 GCCGTGGGGGCCATTGTCCTCACCGGCGGGGATAAGGCCTTTGCAG | CTGGAGCTGATATC    c.300
 A  V  G  A  I  V  L  T  G  G  D  K  A  F  A  A |   G  A  D  I      p.100

          .         .         .         .         .         .       g.8447
 AAGGAAATGCAGAACCTGAGTTTCCAGGACTGTTACTCCAGCAAGTTCTTGAAGCACTGG       c.360
 K  E  M  Q  N  L  S  F  Q  D  C  Y  S  S  K  F  L  K  H  W         p.120

          .         .         .         .         .     | 04   .    g.9388
 GACCACCTCACCCAGGTCAAGAAGCCAGTCATCGCTGCTGTCAATGGCTATGCC | TTTGGC    c.420
 D  H  L  T  Q  V  K  K  P  V  I  A  A  V  N  G  Y  A   | F  G      p.140

          .         .         .         .         .         .       g.9448
 GGGGGCTGTGAGCTTGCCATGATGTGTGATATCATCTATGCCGGTGAGAAGGCCCAGTTT       c.480
 G  G  C  E  L  A  M  M  C  D  I  I  Y  A  G  E  K  A  Q  F         p.160

          .         .         .     | 05   .         .         .    g.11437
 GCACAGCCGGAGATCTTAATAGGAACCATCCCAG | GTGCGGGCGGCACCCAGAGACTCACC    c.540
 A  Q  P  E  I  L  I  G  T  I  P  G |   A  G  G  T  Q  R  L  T      p.180

          .         .         .         .         .         .       g.11497
 CGTGCTGTTGGGAAGTCGCTGGCGATGGAGATGGTCCTCACTGGTGACCGGATCTCAGCC       c.600
 R  A  V  G  K  S  L  A  M  E  M  V  L  T  G  D  R  I  S  A         p.200

          .          | 06        .         .         .         .    g.12350
 CAGGACGCCAAGCAAGCAG | GTCTTGTCAGCAAGATTTGTCCTGTTGAGACACTGGTGGAA    c.660
 Q  D  A  K  Q  A  G |   L  V  S  K  I  C  P  V  E  T  L  V  E      p.220

          .         .         .         .         .         .       g.12410
 GAAGCCATCCAGTGTGCAGAAAAAATTGCCAGCAATTCTAAAATTGTAGTAGCGATGGCC       c.720
 E  A  I  Q  C  A  E  K  I  A  S  N  S  K  I  V  V  A  M  A         p.240

          .          | 07        .         .         .         .    g.13720
 AAAGAATCAGTGAATGCAG | CTTTTGAAATGACATTAACAGAAGGAAGTAAGTTGGAGAAG    c.780
 K  E  S  V  N  A  A |   F  E  M  T  L  T  E  G  S  K  L  E  K      p.260

          .         .        | 08.         .         .         .    g.15504
 AAACTCTTTTATTCAACCTTTGCCACT | GATGACCGGAAAGAAGGGATGACCGCGTTTGTG    c.840
 K  L  F  Y  S  T  F  A  T   | D  D  R  K  E  G  M  T  A  F  V      p.280

          .         .         .                                     g.15537
 GAAAAGAGAAAGGCCAACTTCAAAGACCAGTGA                                  c.873
 E  K  R  K  A  N  F  K  D  Q  X                                    p.290

          .         .         .         .         .         .       g.15597
 gaaccagctgcccctgcttcacacctctgcttggagaggacaagtgcagcctgtcagttt       c.*60

          .         .         .         .         .         .       g.15657
 tagaagcaagtaaatcatcctcttttcaagagcagtgtccgtggtgtgcagttcctctcc       c.*120

          .         .         .         .         .         .       g.15717
 aattgctgcgtggtcgtggcccgacctctcacggcatgacagccttcgtcacccagcctg       c.*180

          .         .         .         .         .         .       g.15777
 tgagggtcctgactggagcaccttctaaatctaagattctgctgaggagcccccgctggt       c.*240

          .         .         .         .         .         .       g.15837
 ccctctgggcatgctgtgctcggacggaaagcggggcctgcgggtccttgtgtccctgcc       c.*300

          .         .         .         .         .         .       g.15897
 gctgaagaatggggctgctctgagggaaacgctgtctgctgccttcatacagatgctgat       c.*360

          .         .                                               g.15922
 taaagtgatagcgattcagattaca                                          c.*385

 (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 Enoyl CoA hydratase, short chain, 1, mitochondrial 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 variants, 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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