NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3) - coding DNA reference sequence

(used for variant description)

(last modified September 23, 2024)

This file was created to facilitate the description of sequence variants on transcript NM_004551.2 in the NDUFS3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering NDUFS3 transcript NM_004551.2.

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

 (upstream sequence)
                                         .         .                g.5022
                                       acacttccgtttccggtccgtg       c.-61

 .         .         .         .         .         .                g.5082
 cccttggggctccgtgtcctgctgtctttccgtccgctgcctagtctgcatctgagtaac       c.-1

          .         .         .         .         .         .       g.5142
 ATGGCGGCGGCGGCGGTAGCCAGGCTGTGGTGGCGCGGGATCTTGGGGGCCTCGGCGCTG       c.60
 M  A  A  A  A  V  A  R  L  W  W  R  G  I  L  G  A  S  A  L         p.20

         | 02.         .         .         .         .         .    g.5312
 ACCAGGG | GGACTGGGCGACCCTCCGTTCTGTTGCTGCCGGTGAGGCGGGAGAGCGCCGGG    c.120
 T  R  G |   T  G  R  P  S  V  L  L  L  P  V  R  R  E  S  A  G      p.40

          .    | 03    .         .         .         .         .    g.6562
 GCCGACACGCGCC | CCACTGTCAGACCACGGAATGATGTGGCCCACAAGCAGCTCTCAGCT    c.180
 A  D  T  R  P |   T  V  R  P  R  N  D  V  A  H  K  Q  L  S  A      p.60

          .         .         .         .         .  | 04      .    g.6834
 TTTGGAGAGTATGTGGCTGAAATCTTGCCCAAGTATGTCCAACAAGTTCAG | GTGTCCTGC    c.240
 F  G  E  Y  V  A  E  I  L  P  K  Y  V  Q  Q  V  Q   | V  S  C      p.80

          .         .         .         .         .         .       g.6894
 TTCAATGAGTTAGAGGTCTGTATCCATCCTGATGGCGTCATCCCAGTGCTGACTTTCCTC       c.300
 F  N  E  L  E  V  C  I  H  P  D  G  V  I  P  V  L  T  F  L         p.100

          .         .         .         .         .         .       g.6954
 AGGGATCACACCAATGCACAGTTCAAATCTCTGGTTGACTTGACAGCAGTGGACGTCCCA       c.360
 R  D  H  T  N  A  Q  F  K  S  L  V  D  L  T  A  V  D  V  P         p.120

          .         .  | 05      .         .         .         .    g.8117
 ACTCGGCAAAACCGTTTTGAG | ATTGTCTACAACCTGTTGTCTCTGCGCTTCAACTCACGG    c.420
 T  R  Q  N  R  F  E   | I  V  Y  N  L  L  S  L  R  F  N  S  R      p.140

          .         .         .         .         .         .       g.8177
 ATCCGTGTGAAGACCTACACAGATGAGCTGACGCCCATTGAGTCTGCTGTCTCTGTGTTC       c.480
 I  R  V  K  T  Y  T  D  E  L  T  P  I  E  S  A  V  S  V  F         p.160

          .         .        | 06.         .         .         .    g.8372
 AAGGCAGCCAACTGGTATGAAAGGGAG | ATCTGGGACATGTTTGGAGTCTTCTTTGCTAAC    c.540
 K  A  A  N  W  Y  E  R  E   | I  W  D  M  F  G  V  F  F  A  N      p.180

          .         .         .         .         .         .       g.8432
 CACCCTGATCTAAGAAGGATCCTGACAGATTATGGCTTCGAGGGACATCCTTTCCGGAAA       c.600
 H  P  D  L  R  R  I  L  T  D  Y  G  F  E  G  H  P  F  R  K         p.200

          .         .        | 07.         .         .         .    g.10337
 GACTTTCCTCTATCTGGCTATGTTGAG | TTACGTTATGATGATGAAGTGAAGCGGGTGGTG    c.660
 D  F  P  L  S  G  Y  V  E   | L  R  Y  D  D  E  V  K  R  V  V      p.220

          .         .         .         .         .         .       g.10397
 GCAGAGCCGGTGGAGTTGGCCCAAGAGTTCCGCAAATTTGACCTGAACAGCCCCTGGGAG       c.720
 A  E  P  V  E  L  A  Q  E  F  R  K  F  D  L  N  S  P  W  E         p.240

          .         .         .         .         .         .       g.10457
 GCTTTCCCAGTCTATCGCCAACCCCCGGAGAGTCTCAAGCTTGAAGCCGGAGACAAGAAG       c.780
 A  F  P  V  Y  R  Q  P  P  E  S  L  K  L  E  A  G  D  K  K         p.260

          .                                                         g.10472
 CCTGATGCCAAGTAG                                                    c.795
 P  D  A  K  X                                                      p.264

          .         .         .         .         .         .       g.10532
 ctccagggaacgcatgtggatcctagacagcgccttatctatgattgagtgtccgtgtaa       c.*60

          .         .                                               g.10554
 ataaattcctacttagacttac                                             c.*82

 (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 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 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.