Transmembrane protein 5 (TMEM5) - coding DNA reference sequence

(used for mutation description)

(last modified May 24, 2013)

This file was created to facilitate the description of sequence variants in the TMEM5 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033244.1, covering TMEM5 transcript NM_014254.2.

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

 (upstream sequence)
                               .         .         .                g.5038
                       gcgtgtccggggcggggctgtaccgggcgctgggcgga       c.-121

 .         .         .         .         .         .                g.5098
 ggagccttggctggggactgcctggaaacgggctgggcctgcctcggacgccgccggtgt       c.-61

 .         .         .         .         .         .                g.5158
 cgcggattctctttccgcccgctccatggcggtggatgcctgactggaagcccgagtggg       c.-1

          .         .         .         .         .         .       g.5218
 ATGCGGCTGACGCGGAAGCGGCTCTGCTCGTTTCTTATCGCCCTGTACTGCCTATTCTCC       c.60
 M  R  L  T  R  K  R  L  C  S  F  L  I  A  L  Y  C  L  F  S         p.20

          .         .         .         .         .         .       g.5278
 CTCTACGCTGCCTACCACGTCTTCTTCGGGCGCCGCCGCCAGGCGCCGGCCGGGTCCCCG       c.120
 L  Y  A  A  Y  H  V  F  F  G  R  R  R  Q  A  P  A  G  S  P         p.40

          .         .         .         .          | 02        .    g.6227
 CGGGGCCTCAGGAAGGGGGCGGCCCCCGCGCGGGAGAGACGCGGCCGAG | AACAGTCCACT    c.180
 R  G  L  R  K  G  A  A  P  A  R  E  R  R  G  R  E |   Q  S  T      p.60

          .         .         .         .         .         .       g.6287
 TTGGAAAGTGAAGAATGGAATCCTTGGGAAGGAGATGAAAAAAATGAGCAACAACACAGA       c.240
 L  E  S  E  E  W  N  P  W  E  G  D  E  K  N  E  Q  Q  H  R         p.80

          .         .         .         .         .         .       g.6347
 TTTAAAACTAGCCTTCAAATATTAGATAAATCCACGAAAGGAAAAACAGATCTCAGTGTA       c.300
 F  K  T  S  L  Q  I  L  D  K  S  T  K  G  K  T  D  L  S  V         p.100

          .         .      | 03  .         .         .         .    g.10202
 CAAATCTGGGGCAAAGCTGCCATTG | GCTTGTATCTCTGGGAGCATATTTTTGAAGGCTTA    c.360
 Q  I  W  G  K  A  A  I  G |   L  Y  L  W  E  H  I  F  E  G  L      p.120

          .         .         .         .         .         .       g.10262
 CTTGATCCCAGCGATGTGACTGCTCAATGGAGAGAAGGAAAGTCAATCGTAGGAAGAACA       c.420
 L  D  P  S  D  V  T  A  Q  W  R  E  G  K  S  I  V  G  R  T         p.140

          | 04         .         .         .         .         .    g.27340
 CAGTACAG | CTTCATCACTGGTCCAGCTGTAATACCAGGGTACTTCTCCGTTGATGTGAAT    c.480
 Q  Y  S  |  F  I  T  G  P  A  V  I  P  G  Y  F  S  V  D  V  N      p.160

          .         .         .         .         .         .       g.27400
 AATGTGGTACTCATTTTAAATGGAAGAGAAAAAGCAAAGATCTTTTATGCCACCCAGTGG       c.540
 N  V  V  L  I  L  N  G  R  E  K  A  K  I  F  Y  A  T  Q  W         p.180

          .         .         .         .         .         .       g.27460
 TTACTTTATGCACAAAATTTAGTGCAAATTCAAAAACTCCAGCATCTTGCTGTTGTTTTG       c.600
 L  L  Y  A  Q  N  L  V  Q  I  Q  K  L  Q  H  L  A  V  V  L         p.200

          .         .         .         .         .         .       g.27520
 CTCGGAAATGAACATTGTGATAATGAGTGGATAAACCCATTCCTCAAAAGAAATGGAGGC       c.660
 L  G  N  E  H  C  D  N  E  W  I  N  P  F  L  K  R  N  G  G         p.220

          .         .         .         .         .         .       g.27580
 TTCGTGGAGCTGCTTTTCATAATATATGACAGCCCCTGGATTAATGACGTGGATGTTTTT       c.720
 F  V  E  L  L  F  I  I  Y  D  S  P  W  I  N  D  V  D  V  F         p.240

          .         .    | 05    .         .         .         .    g.30468
 CAGTGGCCTTTAGGAGTAGCAAC | ATACAGGAATTTTCCTGTGGTGGAGGCAAGTTGGTCA    c.780
 Q  W  P  L  G  V  A  T  |  Y  R  N  F  P  V  V  E  A  S  W  S      p.260

          .         .         .         .         .         .       g.30528
 ATGCTGCATGATGAGAGGCCATATTTATGTAATTTCTTAGGAACGATTTATGAAAATTCA       c.840
 M  L  H  D  E  R  P  Y  L  C  N  F  L  G  T  I  Y  E  N  S         p.280

          .         .         .         .         .         .       g.30588
 TCCAGACAGGCACTAATGAACATTTTGAAAAAAGATGGGAACGATAAGCTTTGTTGGGTT       c.900
 S  R  Q  A  L  M  N  I  L  K  K  D  G  N  D  K  L  C  W  V         p.300

          .     | 06   .         .         .         .         .    g.33918
 TCAGCAAGAGAACA | CTGGCAGCCTCAGGAAACAAATGAAAGTCTTAAGAATTACCAAGAT    c.960
 S  A  R  E  H  |  W  Q  P  Q  E  T  N  E  S  L  K  N  Y  Q  D      p.320

          .         .         .         .         .         .       g.33978
 GCCTTGCTTCAGAGTGATCTCACATTGTGCCCGGTCGGAGTAAACACAGAATGCTATCGA       c.1020
 A  L  L  Q  S  D  L  T  L  C  P  V  G  V  N  T  E  C  Y  R         p.340

          .         .         .         .         .         .       g.34038
 ATCTATGAGGCTTGCTCCTATGGCTCCATTCCTGTGGTGGAAGACGTGATGACAGCTGGC       c.1080
 I  Y  E  A  C  S  Y  G  S  I  P  V  V  E  D  V  M  T  A  G         p.360

          .         .         .         .         .         .       g.34098
 AACTGTGGGAATACATCTGTGCACCACGGTGCTCCTCTGCAGTTACTCAAGTCCATGGGT       c.1140
 N  C  G  N  T  S  V  H  H  G  A  P  L  Q  L  L  K  S  M  G         p.380

          .         .         .         .         .         .       g.34158
 GCTCCCTTTATCTTTATCAAGAACTGGAAGGAACTCCCTGCTGTTTTAGAAAAAGAGAAA       c.1200
 A  P  F  I  F  I  K  N  W  K  E  L  P  A  V  L  E  K  E  K         p.400

          .         .         .         .         .         .       g.34218
 ACTATAATTTTACAAGAAAAAATTGAAAGAAGAAAAATGTTACTTCAGTGGTATCAGCAC       c.1260
 T  I  I  L  Q  E  K  I  E  R  R  K  M  L  L  Q  W  Y  Q  H         p.420

          .         .         .         .         .         .       g.34278
 TTCAAGACAGAGCTTAAAATGAAATTTACTAATATTTTAGAAAGCTCATTTTTAATGAAT       c.1320
 F  K  T  E  L  K  M  K  F  T  N  I  L  E  S  S  F  L  M  N         p.440

          .                                                         g.34290
 AATAAAAGTTAA                                                       c.1332
 N  K  S  X                                                         p.443

          .         .         .         .         .         .       g.34350
 ttatctttttgagctaacatgtgatttttaaaatcattttgactactgggtgtataaatg       c.*60

          .         .         .         .         .         .       g.34410
 tgtttgtgtgtgtatgtatttatagatgttctttaaggtacccttgaaaactctacatta       c.*120

          .         .         .         .         .         .       g.34470
 tgtatgccacataatgacatttcagtcagtggtagactacatatatgatagtggtcccat       c.*180

          .         .         .         .         .         .       g.34530
 aagattataatggagctgaaaaatttctatcgcctagtgatgtcatagcctagtgatgac       c.*240

          .         .         .         .         .         .       g.34590
 atatgtattgcaatacatcactcacgtgtttgtggtgatactggtgtaaacaaatctatt       c.*300

          .         .         .         .         .         .       g.34650
 gcactgccagtcaagtaaaagtacagcaattatgtcctgtacataatatttaataatgac       c.*360

          .         .         .         .         .         .       g.34710
 aataaatgactatgttactggtttatgtatttactatactatactttttacaatttgtat       c.*420

          .         .         .         .                           g.34756
 tagttcttgcattgctatgaataaatgcctgagattgagtaattta                     c.*466

 (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 Transmembrane protein 5 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.