NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 (NDUFAF4) - coding DNA reference sequence

(used for variant description)

(last modified June 13, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_014165.3 in the NDUFAF4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_013379.1, covering NDUFAF4 transcript NM_014165.3.

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

 (upstream sequence)
                               .         .         .                g.5030
                               acttgtgcgcatgctccgggtgtcccggag       c.-61

 .         .         .         .         .         .                g.5090
 ttgtcctgcgccggtgttcccacgtgcggcctgaacctgagcgcataatgttatgaggag       c.-1

          .         .         .         .         .         .       g.5150
 ATGGGAGCACTAGTGATTCGCGGTATCAGGAATTTCAACCTAGAGAACCGAGCGGAACGG       c.60
 M  G  A  L  V  I  R  G  I  R  N  F  N  L  E  N  R  A  E  R         p.20

          .         .         .         .         .         .       g.5210
 GAAATCAGCAAGATGAAGCCCTCTGTCGCTCCCAGACACCCCTCTACCAACAGCCTCCTG       c.120
 E  I  S  K  M  K  P  S  V  A  P  R  H  P  S  T  N  S  L  L         p.40

          .       | 02 .         .         .         .         .    g.6088
 CGAGAGCAGATTAGTC | TCTATCCAGAAGTTAAAGGAGAGATTGCTCGTAAAGATGAAAAG    c.180
 R  E  Q  I  S  L |   Y  P  E  V  K  G  E  I  A  R  K  D  E  K      p.60

          .         .         .         .         .         .       g.6148
 CTGCTGTCGTTTCTAAAAGATGTGTATGTTGATTCCAAAGATCCTGTGTCTTCCTTGCAG       c.240
 L  L  S  F  L  K  D  V  Y  V  D  S  K  D  P  V  S  S  L  Q         p.80

  | 03       .         .         .         .         .         .    g.11560
  | GTAAAAGCTGCTGAAACATGTCAAGAGCCGAAGGAATTCAGATTGCCGAAAGACCATCAT    c.300
  | V  K  A  A  E  T  C  Q  E  P  K  E  F  R  L  P  K  D  H  H      p.100

          .         .         .         .         .         .       g.11620
 TTTGATATGATAAATATTAAGAGCATTCCCAAAGGCAAAATTTCCATTGTAGAAGCATTG       c.360
 F  D  M  I  N  I  K  S  I  P  K  G  K  I  S  I  V  E  A  L         p.120

          .         .         .         .         .         .       g.11680
 ACACTTCTCAATAATCATAAGCTTTTCCCAGAAACCTGGACTGCTGAGAAAATAATGCAG       c.420
 T  L  L  N  N  H  K  L  F  P  E  T  W  T  A  E  K  I  M  Q         p.140

          .         .         .         .         .         .       g.11740
 GAATACCAGTTAGAACAGAAAGATGTGAATTCTCTTCTTAAATATTTTGTTACTTTTGAA       c.480
 E  Y  Q  L  E  Q  K  D  V  N  S  L  L  K  Y  F  V  T  F  E         p.160

          .         .         .         .                           g.11788
 GTCGAAATCTTCCCTCCTGAAGACAAGAAAGCAATACGATCAAAATGA                   c.528
 V  E  I  F  P  P  E  D  K  K  A  I  R  S  K  X                     p.175

          .         .         .         .         .         .       g.11848
 agaaaatcacagaaatttcctatgtgtactcctcatccctcctgctgtatattttctcat       c.*60

          .         .         .         .         .         .       g.11908
 tttttgcgtaataaattatgttaattaccaaatatttaatgctctcattgtgagggcata       c.*120

          .         .         .         .         .         .       g.11968
 ctcttaatatttattgagctccctgacttttcaagattgccatagaatatcttttgtttt       c.*180

          .         .         .         .         .         .       g.12028
 attttaatttggtttaggcatatttcataagtgcatgtcagcatgactgagcacatctgt       c.*240

          .         .         .         .         .         .       g.12088
 acctttattatggtgaaagagttaatttgttattttaggcacatataccaacttttaaat       c.*300

          .         .         .         .         .         .       g.12148
 tggtcatattaccccttgggaaatgtcctgaatccctcaactgagttttactttccaagt       c.*360

          .         .         .         .         .         .       g.12208
 taggtgtttagttcattcttctcatgcgatagtgaaagtaaaagctttcctgacccttaa       c.*420

          .         .         .         .         .         .       g.12268
 gactgacattttctcgttagggaaagagactcgatagcagggtagactaacagtagttcc       c.*480

          .         .         .         .         .         .       g.12328
 caaataaaggcacacaggagaaaatgaatcaatagaatctaattaaaattactactccag       c.*540

          .         .         .         .         .         .       g.12388
 ggaataagaagtattgaggatttattttattttgaattggttttaagtatggaataattg       c.*600

          .         .         .         .         .         .       g.12448
 tctttacagttataaaaagtaattagtggtgtttacaaaatgttgggaatttctgctttg       c.*660

          .         .         .         .         .         .       g.12508
 acagataggtaagtcccatgggaatttctgctttgacaaatagttaagtcccatggcctt       c.*720

          .         .         .         .         .         .       g.12568
 cagagaggcaggaagcagaaactttcaaaaaagtaacatttctctggatttaatgtggaa       c.*780

          .         .         .         .         .         .       g.12628
 atagagaaaaatttaaagaataattaaaaaaccatggtagatgaaatttggtgattacat       c.*840

          .         .         .         .         .         .       g.12688
 atagtttcggatgttaatgctagttgagagaagagaaaaagatagcaagtagaagcagag       c.*900

          .         .         .         .         .         .       g.12748
 aacaggatcattggaagggacctgagaaattgccatttcatccattttagcaaatttaat       c.*960

          .         .         .         .         .         .       g.12808
 tagcatagcatgtaccagtactaggatcttgagtgagtgtgtgagtttagctctgcctaa       c.*1020

          .         .         .         .         .         .       g.12868
 tatattactacttgggggatctttgggagactatatcttcttggagattgagtttcttct       c.*1080

          .         .         .         .         .         .       g.12928
 ataaaataagcataatgctaccctaaatgtaagggttatcatgaagataaataataaagg       c.*1140

          .         .         .         .         .         .       g.12988
 actacaaaggaccaagcaaataggaattattttttgcggtggagaaacaagtgcctgggg       c.*1200

          .         .         .         .         .         .       g.13048
 agaatatatgaccgaagattctgtagtttatgacttaaacaggcccagaatttagttttt       c.*1260

          .         .         .         .         .         .       g.13108
 caaatcctagtagtgtgttttttctgtcttgccaaaaagcagcacacctcaaagaaggga       c.*1320

          .         .         .         .         .         .       g.13168
 aaaggtgtgaattgtgggtatattagggttattagtgcttccgagggaagataggcatca       c.*1380

          .         .         .         .         .         .       g.13228
 ctacttcccagagatgcccctggaaatgatatagaggatgttgaagaattcaatgtgatg       c.*1440

          .         .         .         .         .         .       g.13288
 acggaatgaggcatttgtagtaatgctgagaacagaaaaatggactaagtggaaaatttg       c.*1500

          .         .         .         .         .         .       g.13348
 taagcatgactttgaatgtagatttgttatgtgaacaaactacctagtttatttttagtt       c.*1560

          .         .         .         .         .         .       g.13408
 caatacaataattgttttaagaaaacatgaaataactactcaatataaaatgcattttaa       c.*1620

          .         .         .         .         .         .       g.13468
 aactgtaaataagtcaaaactttattctttttatcataatggtcactagctgagtcacaa       c.*1680

          .         .         .         .         .         .       g.13528
 atactagtacactcttctgagccatcttctttattcatatctacattgtgtggttaggca       c.*1740

          .         .         .         .         .                 g.13581
 tctgttatgtggtgtcacatgataaaataaagaacttcttcccataccattca              c.*1793

 (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) complex I, assembly factor 4 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.