Mitochondrial calcium uptake 1 (MICU1) - coding DNA reference sequence

(used for mutation description)

(last modified March 25, 2013)


This file was created to facilitate the description of sequence variants in the MICU1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033179.1, covering MICU1 transcript NM_006077.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5003
                                                          gtt       c.-181

 .         .         .         .         .         .                g.5063
 ccttttcctctgtgcccctcccacacgcctgtctccacgatcccgacaggcccagcggct       c.-121

 .         .         .         .         .         .                g.5123
 aggagagtcacgtgagagtgggcggagggggtggaggtttgtctccgctgtttcatctct       c.-61

 .         .         .         .         .         .         | 02    g.64398
 atggctgtcagaggtgggcggctttgaccgagaggctgctggagctcgtgtttggacgc | g    c.-1

          .         .         .         .         .         .       g.64458
 ATGTTTCGTCTGAACTCACTTTCTGCTTTGGCAGAACTGGCTGTGGGTTCTCGATGGTAC       c.60
 M  F  R  L  N  S  L  S  A  L  A  E  L  A  V  G  S  R  W  Y         p.20

          .         .         .         .         .         .       g.64518
 CATGGAGGATCACAGCCCATCCAGATCCGGCGAAGACTAATGATGGTGGCTTTCCTGGGA       c.120
 H  G  G  S  Q  P  I  Q  I  R  R  R  L  M  M  V  A  F  L  G         p.40

          .         .         .         .  | 03      .         .    g.68147
 GCATCTGCAGTAACTGCAAGTACTGGTCTTTTGTGGAAGAG | GGCCCATGCAGAATCTCCA    c.180
 A  S  A  V  T  A  S  T  G  L  L  W  K  R  |  A  H  A  E  S  P      p.60

          .         .         .         .         .         .       g.68207
 CCATGTGTAGACAACCTAAAAAGTGACATCGGTGATAAAGGGAAGAATAAAGATGAAGGG       c.240
 P  C  V  D  N  L  K  S  D  I  G  D  K  G  K  N  K  D  E  G         p.80

          .         .         .         .         .         .       g.68267
 GATGTTTGTAACCATGAGAAAAAGACTGCAGATCTTGCCCCTCACCCAGAAGAGAAAAAG       c.300
 D  V  C  N  H  E  K  K  T  A  D  L  A  P  H  P  E  E  K  K         p.100

          .         .         . | 04       .         .         .    g.79880
 AAGAAACGTTCTGGATTCAGAGACAGAAAA | GTGATGGAATATGAGAATAGGATTCGAGCC    c.360
 K  K  R  S  G  F  R  D  R  K   | V  M  E  Y  E  N  R  I  R  A      p.120

          .         .         .         .         .         .       g.79940
 TACTCCACGCCAGACAAAATCTTCCGATATTTTGCCACCTTGAAAGTCATCAGTGAGCCT       c.420
 Y  S  T  P  D  K  I  F  R  Y  F  A  T  L  K  V  I  S  E  P         p.140

          .         .         .         .         .         .       g.80000
 GGTGAAGCAGAAGTGTTTATGACACCAGAAGATTTTGTGCGATCCATAACACCCAATGAA       c.480
 G  E  A  E  V  F  M  T  P  E  D  F  V  R  S  I  T  P  N  E         p.160

          .    | 05    .         .         .         .        | 06. g.121791
 AAACAACCAGAAC | ACTTGGGTCTGGATCAATATATAATAAAACGCTTTGATGGAAAG | ACA c.540
 K  Q  P  E  H |   L  G  L  D  Q  Y  I  I  K  R  F  D  G  K   | T   p.180

     | 07    .         .         .         .         .         .    g.122979
 GAG | AAAATTTCCCAGGAACGAGAAAAATTTGCTGATGAAGGCAGTATATTTTACACCCTT    c.600
 E   | K  I  S  Q  E  R  E  K  F  A  D  E  G  S  I  F  Y  T  L      p.200

          .         .         .         .         .         | 08    g.153937
 GGAGAATGTGGGCTCATATCCTTTTCAGACTACATTTTCCTCACAACTGTTCTTTCCA | CT    c.660
 G  E  C  G  L  I  S  F  S  D  Y  I  F  L  T  T  V  L  S  T |       p.220

          .         .         .         .         .         .       g.153997
 CCTCAGAGAAATTTTGAAATTGCCTTCAAGATGTTTGATTTGAATGGAGATGGAGAAGTA       c.720
 P  Q  R  N  F  E  I  A  F  K  M  F  D  L  N  G  D  G  E  V         p.240

          .         .  | 09      .         .         .         .    g.155933
 GATATGGAAGAATTTGAACAG | GTTCAGAGCATCATTCGCTCCCAAACCAGTATGGGTATG    c.780
 D  M  E  E  F  E  Q   | V  Q  S  I  I  R  S  Q  T  S  M  G  M      p.260

          .         .         .         .         .         .       g.155993
 CGCCACAGAGATCGTCCAACTACTGGCAACACCCTCAAGTCTGGCTTGTGTTCAGCCCTC       c.840
 R  H  R  D  R  P  T  T  G  N  T  L  K  S  G  L  C  S  A  L         p.280

          .         .         .         .         .         .       g.156053
 ACAACCTACTTTTTTGGAGCTGATCTGAAGGGAAAGCTGACAATCAAAAACTTCCTCGAA       c.900
 T  T  Y  F  F  G  A  D  L  K  G  K  L  T  I  K  N  F  L  E         p.300

          .         .         .          | 10        .         .    g.207841
 TTTCAGCGTAAACTGCAGCATGATGTTCTGAAGCTTGAG | TTTGAACGCCATGACCCTGTG    c.960
 F  Q  R  K  L  Q  H  D  V  L  K  L  E   | F  E  R  H  D  P  V      p.320

          .         .         .         .         .         .       g.207901
 GATGGGAGAATTACTGAGAGGCAGTTTGGTGGCATGCTACTTGCCTACAGTGGGGTGCAG       c.1020
 D  G  R  I  T  E  R  Q  F  G  G  M  L  L  A  Y  S  G  V  Q         p.340

          .         .         .         .         .        | 11.    g.223157
 TCCAAGAAGCTGACCGCCATGCAGAGGCAGCTCAAGAAGCACTTCAAAGAAGGAAAG | GGT    c.1080
 S  K  K  L  T  A  M  Q  R  Q  L  K  K  H  F  K  E  G  K   | G      p.360

          .         .         .         .         .         .       g.223217
 CTGACATTTCAGGAGGTGGAGAACTTCTTTACTTTCCTAAAGAACATTAATGATGTGGAC       c.1140
 L  T  F  Q  E  V  E  N  F  F  T  F  L  K  N  I  N  D  V  D         p.380

          .         .         .         .       | 12 .         .    g.255333
 ACTGCATTGAGTTTTTACCATATGGCTGGAGCATCTCTTGATAAAG | TGACCATGCAGCAG    c.1200
 T  A  L  S  F  Y  H  M  A  G  A  S  L  D  K  V |   T  M  Q  Q      p.400

          .         .         .         .         .         .       g.255393
 GTGGCCAGGACAGTGGCTAAAGTGGAGCTCTCAGACCACGTGTGTGATGTGGTGTTTGCA       c.1260
 V  A  R  T  V  A  K  V  E  L  S  D  H  V  C  D  V  V  F  A         p.420

          .       | 13 .         .         .         .         .    g.262880
 CTCTTTGACTGTGATG | GCAATGGCGAACTGAGCAATAAGGAATTTGTTTCCATCATGAAG    c.1320
 L  F  D  C  D  G |   N  G  E  L  S  N  K  E  F  V  S  I  M  K      p.440

          .         .         .         .         .         .       g.262940
 CAACGGCTGATGAGAGGCCTGGAAAAGCCCAAAGACATGGGTTTCACTCGCCTCATGCAG       c.1380
 Q  R  L  M  R  G  L  E  K  P  K  D  M  G  F  T  R  L  M  Q         p.460

          .         .         .         .         .                 g.262997
 GCCATGTGGAAATGTGCACAGGAAACTGCCTGGGACTTCGCTTTACCCAAACAGTAA          c.1437
 A  M  W  K  C  A  Q  E  T  A  W  D  F  A  L  P  K  Q  X            p.478

          .         .         .         .         .         .       g.263057
 ccccacactgcaagaggggacccctccacccccagtaccctggaccccctccgcagagtc       c.*60

          .         .         .         .         .         .       g.263117
 tcggcagagccctttgtgctgctgcttctggaagtagtcccccttcctcccgggatgacc       c.*120

          .         .         .         .         .         .       g.263177
 tcaggactctgtcggtttcccctctttacccttccccgtccccgtgttctgctgggctct       c.*180

          .         .         .         .         .         .       g.263237
 gattctgcccaatgagtatccccataggttctcaaaaacatgaacaagtctgtaaagctc       c.*240

          .         .         .         .         .         .       g.263297
 agacatttgtcagcctcaacagcaccacccattcaagcatcctgtggataaagaattcag       c.*300

          .         .         .         .         .         .       g.263357
 ggaaccatccacacacctgccaaccctgggaagcatccagttctcaaatcgtttttgcta       c.*360

          .         .         .         .         .         .       g.263417
 tggatttatactaacaagaacattccttgacttccctcctgctggtgttttaaagccaca       c.*420

          .         .         .         .         .         .       g.263477
 agtagggaagatatctggcaggcagaaagaagtctgtgatgataaacaatgatgaggatg       c.*480

          .         .         .         .         .         .       g.263537
 acctaggcaccctacgctagtgtgagaagcctgcgccccaggaaggatctgtgttagtcc       c.*540

          .         .         .         .         .         .       g.263597
 ctgggatggctccaaggcctgctctaggaaggcagcatgctcagtgggaacacagcaaga       c.*600

          .         .         .         .         .         .       g.263657
 ttcagaatttaaagtagttgcttcatggctctgtgcactcccttttcttcctcgcagcct       c.*660

          .         .         .         .         .         .       g.263717
 ccctaagatgactccagtgtgaccctgtgcttagtgagcaatagtgattgagctcatgtt       c.*720

          .         .         .         .         .         .       g.263777
 ccctgcaagtgccatttcctctccaggatgggcctctaaagctgaggcctggctcagagc       c.*780

          .         .         .         .         .         .       g.263837
 ctgtttgccctctgtcttaaacaattgtaaatatcacttaaattataaccatttgcaata       c.*840

          .         .                                               g.263866
 aacatccccaaagttccctgtctccttta                                      c.*869

 (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 Mitochondrial calcium uptake 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 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 mutations, 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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