solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 (SLC25A4) - coding DNA reference sequence

(used for variant description)

(last modified May 1, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_001151.3 in the SLC25A4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_013001.1, covering SLC25A4 transcript NM_001151.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5050
           ggcggccccctagcgtcgcgcagggtcggggactgcgcggcggtgccagg       c.-61

 .         .         .         .         .         .                g.5110
 ccgggcgtgggcgagagcacgaacgggctgcctgcgggctgagagcgtcgagctgtcacc       c.-1

          .         .         .         .         .         .       g.5170
 ATGGGTGATCACGCTTGGAGCTTCCTAAAGGACTTCCTGGCCGGGGGCGTCGCCGCTGCC       c.60
 M  G  D  H  A  W  S  F  L  K  D  F  L  A  G  G  V  A  A  A         p.20

          .         .         .         .         .  | 02      .    g.6510
 GTCTCCAAGACCGCGGTCGCCCCCATCGAGAGGGTCAAACTGCTGCTGCAG | GTCCAGCAT    c.120
 V  S  K  T  A  V  A  P  I  E  R  V  K  L  L  L  Q   | V  Q  H      p.40

          .         .         .         .         .         .       g.6570
 GCCAGCAAACAGATCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGTGGTGAGA       c.180
 A  S  K  Q  I  S  A  E  K  Q  Y  K  G  I  I  D  C  V  V  R         p.60

          .         .         .         .         .         .       g.6630
 ATCCCTAAGGAGCAGGGCTTCCTCTCCTTCTGGAGGGGTAACCTGGCCAACGTGATCCGT       c.240
 I  P  K  E  Q  G  F  L  S  F  W  R  G  N  L  A  N  V  I  R         p.80

          .         .         .         .         .         .       g.6690
 TACTTCCCCACCCAAGCTCTCAACTTCGCCTTCAAGGACAAGTACAAGCAGCTCTTCTTA       c.300
 Y  F  P  T  Q  A  L  N  F  A  F  K  D  K  Y  K  Q  L  F  L         p.100

          .         .         .         .         .         .       g.6750
 GGGGGTGTGGATCGGCATAAGCAGTTCTGGCGCTACTTTGCTGGTAACCTGGCGTCCGGT       c.360
 G  G  V  D  R  H  K  Q  F  W  R  Y  F  A  G  N  L  A  S  G         p.120

          .         .         .         .         .         .       g.6810
 GGGGCCGCTGGGGCCACCTCCCTTTGCTTTGTCTACCCGCTGGACTTTGCTAGGACCAGG       c.420
 G  A  A  G  A  T  S  L  C  F  V  Y  P  L  D  F  A  R  T  R         p.140

          .         .         .         .         .         .       g.6870
 TTGGCTGCTGATGTGGGCAAGGGCGCCGCCCAGCGTGAGTTCCATGGTCTGGGCGACTGT       c.480
 L  A  A  D  V  G  K  G  A  A  Q  R  E  F  H  G  L  G  D  C         p.160

          .         .         .         .         .         .       g.6930
 ATCATCAAGATCTTCAAGTCTGATGGCCTGAGGGGGCTCTACCAGGGTTTCAACGTCTCT       c.540
 I  I  K  I  F  K  S  D  G  L  R  G  L  Y  Q  G  F  N  V  S         p.180

          .         .         .         .         .         | 03    g.7498
 GTCCAAGGCATCATTATCTATAGAGCTGCCTACTTCGGAGTCTATGATACTGCCAAGG | GG    c.600
 V  Q  G  I  I  I  Y  R  A  A  Y  F  G  V  Y  D  T  A  K  G |       p.200

          .         .         .         .         .         .       g.7558
 ATGCTGCCTGACCCCAAGAACGTGCACATTTTTGTGAGCTGGATGATTGCCCAGAGTGTG       c.660
 M  L  P  D  P  K  N  V  H  I  F  V  S  W  M  I  A  Q  S  V         p.220

          .         .         .         .         .         .       g.7618
 ACGGCAGTCGCAGGGCTGGTGTCCTACCCCTTTGACACTGTTCGTCGTAGAATGATGATG       c.720
 T  A  V  A  G  L  V  S  Y  P  F  D  T  V  R  R  R  M  M  M         p.240

          .          | 04        .         .         .         .    g.8592
 CAGTCCGGCCGGAAAGGGG | CCGATATTATGTACACGGGGACAGTTGACTGCTGGAGGAAG    c.780
 Q  S  G  R  K  G  A |   D  I  M  Y  T  G  T  V  D  C  W  R  K      p.260

          .         .         .         .         .         .       g.8652
 ATTGCAAAAGACGAAGGAGCCAAGGCCTTCTTCAAAGGTGCCTGGTCCAATGTGCTGAGA       c.840
 I  A  K  D  E  G  A  K  A  F  F  K  G  A  W  S  N  V  L  R         p.280

          .         .         .         .         .                 g.8709
 GGCATGGGCGGTGCTTTTGTATTGGTGTTGTATGATGAGATCAAAAAATATGTCTAA          c.897
 G  M  G  G  A  F  V  L  V  L  Y  D  E  I  K  K  Y  V  X            p.298

          .         .         .         .         .         .       g.8769
 tgtaattaaaacacaagttcacagatttacagtgaacttgatctacaagttcacagatcc       c.*60

          .         .         .         .         .         .       g.8829
 attgtgtggtttaatagactattcctaggggaagtaaaaagatctgggataaaaccagac       c.*120

          .         .         .         .         .         .       g.8889
 tgaaaggaatacctcagaagagatgcttcattgagtgttcattaaaccacacatgtattt       c.*180

          .         .         .         .         .         .       g.8949
 tgtatttattttacatttaaattcccacagcaaatagaaaataatttatcatacttgtac       c.*240

          .         .         .         .         .         .       g.9009
 aattaactgaagaattgataataactgaatgtgaaacatcaataaagaccacttaatgca       c.*300

          .         .         .         .         .         .       g.9069
 cgctttctattttattgaactcttattaactgtaaaatgcatttttaaaagatcaaaaat       c.*360

          .         .         .         .         .         .       g.9129
 gcatattttctagcatgattcatgtatcagtcagcagccaagcttctaaatgccagatat       c.*420

          .         .         .         .         .         .       g.9189
 tatattgagaatgtattatatgagaacgtacaatgcttaaagttccggttttcaaactta       c.*480

          .         .         .         .         .         .       g.9249
 ggcaggtcatattctatctatcttatccagcattactgtaggctagaaagtgataatggc       c.*540

          .         .         .         .         .         .       g.9309
 tttcataatcctgccttgtcttaggcactttcctgcagtctttagaaattctaagattct       c.*600

          .         .         .         .         .         .       g.9369
 gctaaaagttttaaatcacaatctggagaattttctatgattaggaagtgctctgttttc       c.*660

          .         .         .         .         .         .       g.9429
 atccctttagataactgtgacacctagaattttatgttaagtagagagtattcattgaaa       c.*720

          .         .         .         .         .         .       g.9489
 atcaaggccaggtgcagtggctcacacctgtcaccccagcactttgggaggcagaggtgg       c.*780

          .         .         .         .         .         .       g.9549
 gcgtatcacttcaggccaggagtttgagaccagcctggccaaccgagcgaaaccccatct       c.*840

          .         .         .         .         .         .       g.9609
 ctaataaaaatacaaaaaattagctgggtgtggtggcgcacacctgtaatcccaactact       c.*900

          .         .         .         .         .         .       g.9669
 caggaggctgaggcatcagaatcacttgaacccgagaggcagaggttgcagtgagctgag       c.*960

          .         .         .         .         .         .       g.9729
 atggcatgccaccacatccatcctaagcgacagggcaagactctgtctcaaaaaaaaaaa       c.*1020

          .         .         .         .         .         .       g.9789
 aaagaaagaaaatcagttgtcttagtttaagctactataacaaggtactgtagactgatg       c.*1080

          .         .         .         .         .         .       g.9849
 gcttataagcaacagaaacttatttctcagttctgtagtctggaggtccaagatcaaggt       c.*1140

          .         .         .         .         .         .       g.9909
 gacactgtggtcaggttctgatgagggccctcttctgggttataaactacggacttcttg       c.*1200

          .         .         .         .         .         .       g.9969
 tatccttacatggcagaaagagcgacagagctctctgtagtcccttttataagctcacta       c.*1260

          .         .         .         .         .         .       g.10029
 atcccattcatgagggccctaccctcatgacccaattacctcccaaatgcccctcctcca       c.*1320

          .         .         .         .         .         .       g.10089
 aacaccaccactttgggggttaagatttcaacagatgaattttgaagggacacaaacatt       c.*1380

          .         .         .         .         .         .       g.10149
 cagtccatagcatcacttatcaagctagtatttaatacctcttaggccccgtggaaggga       c.*1440

          .         .         .         .         .         .       g.10209
 aaatagataggaacctgccctgaaagatgcttcagttggggagaaaaggtgaaattccat       c.*1500

          .         .         .         .         .         .       g.10269
 tgttagacaatttgtttaagacaatacatcttgcttgagaaggaatagaagggaaatgaa       c.*1560

          .         .         .         .         .         .       g.10329
 atggggggagggagtggtaggagatggaggctttgaaagaaaataaccagatttagaaac       c.*1620

          .         .         .         .         .         .       g.10389
 atgggtatagaaagcatcctccagtacttctgtaacaatttatcaagacctacaggaagt       c.*1680

          .         .         .         .         .         .       g.10449
 cagttttggatttgctcctccgagatttgcgagccagaggaaaatacttagactatcagg       c.*1740

          .         .         .         .         .         .       g.10509
 ttggaaagttcacacttggaccaggaaaagaccaagcagttgctatagtctcctggattg       c.*1800

          .         .         .         .         .         .       g.10569
 tgactaatctggaggaagcaagtccctgtatccttggcaaagcttgaaaggcaggcaaat       c.*1860

          .         .         .         .         .         .       g.10629
 gtcttctctgtgttttctgacaggtggttgggtggtgggggttggtctctgtacctcctg       c.*1920

          .         .         .         .         .         .       g.10689
 ttctttaccttgcttaccaagcccttccaccgactcactcctgcctccccagctaaaaat       c.*1980

          .         .         .         .         .         .       g.10749
 tggctgtgttgcttttaccacagttaccaaggtctgagttttataaaatccaggatcaca       c.*2040

          .         .         .         .         .         .       g.10809
 tctgacctcacctggtagatatctaggccaataaagtctaaagggctaaaaagaaggtac       c.*2100

          .         .         .         .         .         .       g.10869
 ctctccatcctgtctcctcgaggccaggcagcacatgtgcagttaagaggcctcctggat       c.*2160

          .         .         .         .         .         .       g.10929
 ccattgtcctcctgttgcttttcgttctaagtgatccaaactctattgctgatagggaat       c.*2220

          .         .         .         .         .         .       g.10989
 aaaagcagggcaggctagtagtgggcaagtgctttgatggagcgtatctccaagcagggc       c.*2280

          .         .         .         .         .         .       g.11049
 ccaagtttaggaggaggaagacctgatacaatgaatgaacagtgcgtcctcccaacccaa       c.*2340

          .         .         .         .         .         .       g.11109
 ccaagaagtgtaattgtgttccgtctttaaccctggcatggaatggggagggaagaggca       c.*2400

          .         .         .         .         .         .       g.11169
 tggacatttattacatagtgcacattatctacattctctgcatgtgacccagatgtcagc       c.*2460

          .         .         .         .         .         .       g.11229
 ccttccgcttcctgcgaaggttacctctaatgcacgttgccccaggccctgctgagctag       c.*2520

          .         .         .         .         .         .       g.11289
 ttcctcaccgcagctacttaactcaccatgaattcctagaaccctcagcctctgagagtg       c.*2580

          .         .         .         .         .         .       g.11349
 ctgggatctggcgggagaacaggcagtacttccctcactaacctacccgcacgccatacc       c.*2640

          .         .         .         .         .         .       g.11409
 atcattgtgcaaagctgcctcatgctggaaggtctggtttacgtaaaagtgacaagttgg       c.*2700

          .         .         .         .         .         .       g.11469
 aattgagcgtccgactctcgggtacctgccccaggcatttctcatcagccccatttccca       c.*2760

          .         .         .         .         .         .       g.11529
 cacagctctctcctaggcgcagccctccttcaccaccaccacccccaccccaatcacctt       c.*2820

          .         .         .         .         .         .       g.11589
 taggtattttctcccctaaagcctcacctgttggcattttacatctttttaagaccttat       c.*2880

          .         .         .         .         .         .       g.11649
 tttgtattttaaatgtatgagaaaaattatggaggatgatgcaagatgagtgagtccata       c.*2940

          .         .         .         .         .         .       g.11709
 atggtaataattggacactaaaaacaatgaaaacttgtctcaagtatttgtgttgaaatc       c.*3000

          .         .         .         .         .         .       g.11769
 tcaattaactgggcgactgctcccgttccattttattctgtaaaatatgtggcatccttt       c.*3060

          .         .         .         .         .         .       g.11829
 gtgttgaggcggcatttactaaacacccccaaggtgcaaggctgcaagagaatcgagcgc       c.*3120

          .         .         .         .         .         .       g.11889
 cgcaaggcgagcttatcttccacacctggtacagtgcccaggacagagaaggtgtttagc       c.*3180

          .         .         .         .         .         .       g.11949
 aagtttctgctgaatggaagagtgagcgagaagggaaagtgcatctaaaaagcacaggga       c.*3240

          .         .         .         .         .         .       g.12009
 acctacaaaatatttgggaaagggtttcatcagttcgggtgaaatcttgaacgtgcaaag       c.*3300

          .         .         .         .         .         .       g.12069
 caccatgggggtggctggacaggcttgttggagtcgtataatgcaatgaataaaaactta       c.*3360

          .         .         .         .         .                 g.12122
 cggctgccttaaatgcaaatgtcaagcccttaaataaaatttaacaaagtcta              c.*3413

 (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 Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 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.