ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 (UQCRFS1) - coding DNA reference sequence

(used for variant description)

(last modified January 8, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_006003.2 in the UQCRFS1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering UQCRFS1 transcript NM_006003.2.

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

 (upstream sequence)
           .         .         .         .         .                g.5051
          atttcctttccggcggcgcgctgtcgtcacgcgtcccgcgcctcctcgcgc       c.-61

 .         .         .         .         .         .                g.5111
 ctgcgccgtggttggaaggtcgtccctgtgaccggcttggcggttggagcggctgtcgcc       c.-1

          .         .         .         .         .         .       g.5171
 ATGTTGTCGGTAGCATCCCGCTCAGGCCCGTTCGCGCCCGTCCTGTCGGCCACGTCCCGC       c.60
 M  L  S  V  A  S  R  S  G  P  F  A  P  V  L  S  A  T  S  R         p.20

          .         .         .         .         .         .       g.5231
 GGGGTGGCGGGCGCGCTGCGGCCCTTGGTGCAGGCCACGGTGCCCGCCACCCCGGAGCAG       c.120
 G  V  A  G  A  L  R  P  L  V  Q  A  T  V  P  A  T  P  E  Q         p.40

          .         .         .         .         .         .       g.5291
 CCTGTGTTGGACCTGAAGCGGCCCTTCCTCAGCCGGGAGTCGCTGAGCGGCCAGGCCGTG       c.180
 P  V  L  D  L  K  R  P  F  L  S  R  E  S  L  S  G  Q  A  V         p.60

          .         .         .     | 02   .         .         .    g.10097
 CGCCGGCCTTTGGTCGCCTCCGTGGGCCTCAATG | TCCCTGCTTCTGTTTGTTATTCCCAC    c.240
 R  R  P  L  V  A  S  V  G  L  N  V |   P  A  S  V  C  Y  S  H      p.80

          .         .         .         .         .         .       g.10157
 ACAGACATCAAGGTGCCTGACTTCTCTGAATACCGCCGCCTTGAAGTTTTAGATAGTACG       c.300
 T  D  I  K  V  P  D  F  S  E  Y  R  R  L  E  V  L  D  S  T         p.100

          .         .         .         .         .         .       g.10217
 AAGTCTTCAAGAGAAAGCAGCGAGGCTAGGAAAGGTTTCTCCTATTTGGTAACTGGAGTA       c.360
 K  S  S  R  E  S  S  E  A  R  K  G  F  S  Y  L  V  T  G  V         p.120

          .         .         .         .         .         .       g.10277
 ACTACTGTGGGTGTCGCATATGCTGCCAAGAATGCCGTCACCCAGTTCGTTTCCAGCATG       c.420
 T  T  V  G  V  A  Y  A  A  K  N  A  V  T  Q  F  V  S  S  M         p.140

          .         .         .         .         .         .       g.10337
 AGTGCTTCTGCTGATGTGTTGGCCCTGGCGAAAATCGAAATCAAGTTATCCGATATTCCA       c.480
 S  A  S  A  D  V  L  A  L  A  K  I  E  I  K  L  S  D  I  P         p.160

          .         .         .         .         .         .       g.10397
 GAAGGCAAGAACATGGCTTTCAAATGGAGAGGCAAACCCCTGTTTGTGCGTCATAGAACC       c.540
 E  G  K  N  M  A  F  K  W  R  G  K  P  L  F  V  R  H  R  T         p.180

          .         .         .         .         .         .       g.10457
 CAGAAGGAAATTGAGCAGGAAGCTGCAGTTGAATTATCACAGTTGAGGGACCCACAGCAT       c.600
 Q  K  E  I  E  Q  E  A  A  V  E  L  S  Q  L  R  D  P  Q  H         p.200

          .         .         .         .         .         .       g.10517
 GATCTAGATCGAGTAAAGAAACCTGAATGGGTTATCCTGATAGGTGTTTGCACTCATCTT       c.660
 D  L  D  R  V  K  K  P  E  W  V  I  L  I  G  V  C  T  H  L         p.220

          .         .         .         .         .         .       g.10577
 GGCTGTGTACCCATTGCAAATGCAGGAGATTTTGGTGGTTATTACTGCCCTTGCCATGGG       c.720
 G  C  V  P  I  A  N  A  G  D  F  G  G  Y  Y  C  P  C  H  G         p.240

          .         .         .         .         .         .       g.10637
 TCACACTATGATGCATCTGGCAGGATCAGATTGGGTCCTGCTCCTCTCAACCTTGAAGTC       c.780
 S  H  Y  D  A  S  G  R  I  R  L  G  P  A  P  L  N  L  E  V         p.260

          .         .         .         .                           g.10682
 CCCACGTATGAGTTCACCAGTGACGATATGGTGATTGTTGGTTAA                      c.825
 P  T  Y  E  F  T  S  D  D  M  V  I  V  G  X                        p.274

          .         .         .         .         .         .       g.10742
 gagacttggactcaagtcataggcttctttcagtctttatgtcacctcaggagacttatt       c.*60

          .         .         .         .         .         .       g.10802
 tgagaggaagccttctgtacttgaagttgatttgaaatatgtaagaattgatgatgtatt       c.*120

          .         .         .         .         .         .       g.10862
 tgcaaacattaatgtgaaataaattgaatttaatgttgaatactttcaggcattcactta       c.*180

          .         .         .         .         .         .       g.10922
 ataaagacactgttaagcactgttatgctcagtcatacacgcgaaaggtacaatgtcttt       c.*240

          .         .         .         .                           g.10970
 tagctaattctaattaaaaattacagactggtgtacaagatacttgtg                   c.*288

 (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 Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 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 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.