translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1) - coding DNA reference sequence

(used for variant description)

(last modified December 19, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_016589.3 in the TIMMDC1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering TIMMDC1 transcript NM_016589.3.

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

 (upstream sequence)
                               .         .         .                g.5033
                            tgccccggtcgggcgggacttcctgtgtcgtat       c.-181

 .         .         .         .         .         .                g.5093
 ttccaaggactccaaagcgaggccggggactgaaggtgtgggtgtcgagccctctggcag       c.-121

 .         .         .         .         .         .                g.5153
 agggttaacctgggtcaaatgcacggattctcacctcgtacagttacgctctcccgcggc       c.-61

 .         .         .         .         .         .                g.5213
 acgtccgcgaggacttgaagtcctgagcgctcaagtttgtccgtaggtcgagagaaggcc       c.-1

          .         .         .         .         .         .       g.5273
 ATGGAGGTGCCGCCACCGGCACCGCGGAGCTTTCTCTGTAGAGCATTGTGCCTATTTCCC       c.60
 M  E  V  P  P  P  A  P  R  S  F  L  C  R  A  L  C  L  F  P         p.20

          .         .         .         .         .         .       g.5333
 CGAGTCTTTGCTGCCGAAGCTGTGACTGCCGATTCGGAAGTCCTTGAGGAGCGTCAGAAG       c.120
 R  V  F  A  A  E  A  V  T  A  D  S  E  V  L  E  E  R  Q  K         p.40

          .         .         .         .         .         .       g.5393
 CGGCTTCCCTACGTCCCAGAGCCCTATTACCCGGAATCTGGATGGGACCGCCTCCGGGAG       c.180
 R  L  P  Y  V  P  E  P  Y  Y  P  E  S  G  W  D  R  L  R  E         p.60

          .     | 02   .         .         .         .         .    g.7220
 CTGTTTGGCAAAGA | TGAACAGCAGAGAATTTCAAAGGACCTTGCTAATATCTGTAAGACG    c.240
 L  F  G  K  D  |  E  Q  Q  R  I  S  K  D  L  A  N  I  C  K  T      p.80

          .         .         .         .         .         .       g.7280
 GCAGCTACAGCAGGCATCATTGGCTGGGTGTATGGGGGAATACCAGCTTTTATTCATGCT       c.300
 A  A  T  A  G  I  I  G  W  V  Y  G  G  I  P  A  F  I  H  A         p.100

          .         .         .         .         .         .       g.7340
 AAACAACAATACATTGAGCAGAGCCAGGCAGAAATTTATCATAACCGGTTTGATGCTGTG       c.360
 K  Q  Q  Y  I  E  Q  S  Q  A  E  I  Y  H  N  R  F  D  A  V         p.120

  | 03       .         .         .         .         .         .    g.10071
  | CAATCTGCACATCGTGCTGCCACACGAGGCTTCATTCGTTATGGCTGGCGCTGGGGTTGG    c.420
  | Q  S  A  H  R  A  A  T  R  G  F  I  R  Y  G  W  R  W  G  W      p.140

          .         .          | 04        .         .         .    g.10464
 AGAACTGCAGTGTTTGTGACTATATTCAA | CACAGTGAACACTAGTCTGAATGTATACCGA    c.480
 R  T  A  V  F  V  T  I  F  N  |  T  V  N  T  S  L  N  V  Y  R      p.160

          .         .         .        | 05.         .         .    g.20143
 AATAAAGATGCCTTAAGCCATTTTGTAATTGCAGGAG | CTGTCACGGGAAGTCTTTTTAGG    c.540
 N  K  D  A  L  S  H  F  V  I  A  G  A |   V  T  G  S  L  F  R      p.180

          .         .         .         .         .       | 06 .    g.23688
 ATAAACGTAGGCCTGCGTGGCCTGGTGGCTGGTGGCATAATTGGAGCCTTGCTGGG | CACT    c.600
 I  N  V  G  L  R  G  L  V  A  G  G  I  I  G  A  L  L  G  |  T      p.200

          .         .         .         .         .         .       g.23748
 CCTGTAGGAGGCCTGCTGATGGCATTTCAGAAGTACTCTGGTGAGACTGTTCAGGAAAGA       c.660
 P  V  G  G  L  L  M  A  F  Q  K  Y  S  G  E  T  V  Q  E  R         p.220

          .         .         .         .        | 07.         .    g.30098
 AAACAGAAGGATCGAAAGGCACTCCATGAGCTAAAACTGGAAGAGTG | GAAAGGCAGACTA    c.720
 K  Q  K  D  R  K  A  L  H  E  L  K  L  E  E  W  |  K  G  R  L      p.240

          .         .         .         .         .         .       g.30158
 CAAGTTACTGAGCACCTCCCTGAGAAAATTGAAAGTAGTTTACAGGAAGATGAACCTGAG       c.780
 Q  V  T  E  H  L  P  E  K  I  E  S  S  L  Q  E  D  E  P  E         p.260

          .         .         .         .         .         .       g.30218
 AATGATGCTAAGAAAATTGAAGCACTGCTAAACCTTCCTAGAAACCCTTCAGTAATAGAT       c.840
 N  D  A  K  K  I  E  A  L  L  N  L  P  R  N  P  S  V  I  D         p.280

          .                                                         g.30236
 AAACAAGACAAGGACTGA                                                 c.858
 K  Q  D  K  D  X                                                   p.285

          .         .         .         .         .         .       g.30296
 aagtgctctgaacttgaaactcactggagagctgaagggagctgccatgtccgatgaatg       c.*60

          .         .         .         .         .         .       g.30356
 ccaacagacaggccactctttggtcagcctgctgacaaatttaagtgctggtacctgtgg       c.*120

          .         .         .         .         .         .       g.30416
 tggcagtggcttgctcttgtctttttcttttctttttaactaagaatggggctgttgtac       c.*180

          .         .         .         .         .         .       g.30476
 tctcactttacttatccttaaatttaaatacatacttatgtttgtattaatctatcaata       c.*240

          .         .         .         .         .         .       g.30536
 tatgcatacatgaatatatccacccacctagattttaagcagtaaataaaacatttcgca       c.*300

          .         .         .         .         .         .       g.30596
 aaagattaaagttgaattttacagttcgtatattcatgtggtcctttgaaagggtattct       c.*360

          .         .         .         .         .         .       g.30656
 agaaatcactggaaagaggagaggaaagaaccaggtaggcaaatggtctgtgaaaccctt       c.*420

          .         .         .         .         .         .       g.30716
 gggtcctggaagcagtgtgagtgtaaatgtgtagtgtttggtttcatctaaataaacaaa       c.*480

          .         .         .         .                           g.30761
 gatgatttctttgacacttgaaataaaatacaaattcaacaaaaa                      c.*525

 (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 Translocase of inner mitochondrial membrane domain containing 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.