transmembrane and coiled-coil domains 1 (TMCO1) - coding DNA reference sequence

(used for variant description)

(last modified October 11, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_019026.4 in the TMCO1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032004.1, covering TMCO1 transcript NM_019026.4.

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

 (upstream sequence)
                                                   .                g.5018
                                           acgagcctttccggtgct       c.-1

          .         .         .         .         .         .       g.5078
 ATGCCCCGGAAGCGGAAGTGCGATCTTCGGGCTGTCAGAGTTGGTCTGTTACTCGGTGGT       c.60
 M  P  R  K  R  K  C  D  L  R  A  V  R  V  G  L  L  L  G  G         p.20

          .         .         .         .         .         .       g.5138
 GGCGGAGTCTACGGAAGCCGTTTTCGCTTCACTTTTCCTGGCTGTAGAGCGCTTTCCCCC       c.120
 G  G  V  Y  G  S  R  F  R  F  T  F  P  G  C  R  A  L  S  P         p.40

          .         .         .         .         .         .       g.5198
 TGGCGGGTGAGAGTGCAGAGACGAAGGTGCGAGATGAGCACTATGTTCGCGGACACTCTC       c.180
 W  R  V  R  V  Q  R  R  R  C  E  M  S  T  M  F  A  D  T  L         p.60

          .         .         .         .    | 02    .         .    g.5670
 CTCATCGTTTTTATCTCTGTGTGCACGGCTCTGCTCGCAGAGG | GCATAACCTGGGTCCTG    c.240
 L  I  V  F  I  S  V  C  T  A  L  L  A  E  G |   I  T  W  V  L      p.80

          .         .         .         .         .         .       g.5730
 GTTTACAGGACAGACAAGTACAAGAGACTGAAGGCAGAAGTGGAAAAACAGAGTAAAAAA       c.300
 V  Y  R  T  D  K  Y  K  R  L  K  A  E  V  E  K  Q  S  K  K         p.100

   | 03      .         .         .         .         .         .    g.14397
 T | TGGAAAAGAAGAAGGAAACAATAACAGAGTCAGCTGGTCGACAACAGAAAAAGAAAATA    c.360
 L |   E  K  K  K  E  T  I  T  E  S  A  G  R  Q  Q  K  K  K  I      p.120

   | 04      .         .         .         .         | 05         . g.21765
 G | AGAGACAAGAAGAGAAACTGAAGAATAACAACAGAGATCTATCAATG | GTTCGAATGAAA c.420
 E |   R  Q  E  E  K  L  K  N  N  N  R  D  L  S  M   | V  R  M  K   p.140

          .         .         .         .         .       | 06 .    g.30615
 TCCATGTTTGCTATTGGCTTTTGTTTTACTGCCCTAATGGGAATGTTCAATTCCAT | ATTT    c.480
 S  M  F  A  I  G  F  C  F  T  A  L  M  G  M  F  N  S  I  |  F      p.160

          .         .         .         .         .         .       g.30675
 GATGGTAGAGTGGTGGCAAAGCTTCCTTTTACCCCTCTTTCTTACATCCAAGGACTGTCT       c.540
 D  G  R  V  V  A  K  L  P  F  T  P  L  S  Y  I  Q  G  L  S         p.180

          .         .         .         .         .         .       g.30735
 CATCGAAATCTGCTGGGAGATGACACCACAGACTGTTCCTTCATTTTCCTGTATATTCTC       c.600
 H  R  N  L  L  G  D  D  T  T  D  C  S  F  I  F  L  Y  I  L         p.200

          .         .  | 07      .         .         .         .    g.45840
 TGTACTATGTCGATTCGACAG | AACATTCAGAAGATTCTCGGCCTTGCCCCTTCACGAGCC    c.660
 C  T  M  S  I  R  Q   | N  I  Q  K  I  L  G  L  A  P  S  R  A      p.220

          .         .         .         .         .         .       g.45900
 GCCACCAAGCAGGCAGGTGGATTTCTTGGCCCACCACCTCCTTCTGGGAAGTTCTCTTGA       c.720
 A  T  K  Q  A  G  G  F  L  G  P  P  P  P  S  G  K  F  S  X         p.239

          .         .         .         .         .         .       g.45960
 actcaagaactctttattttctatcattctttctagacacacacacatcagactggcaac       c.*60

          .         .         .         .         .         .       g.46020
 tgttttgtagcaagagccataggtagccttactacttgggcctctttctagttttgaatt       c.*120

          .         .         .         .         .         .       g.46080
 atttctaagccttttgggtatgattagagtgaaaatggcagccagcaaacttgatagtgc       c.*180

          .         .         .         .         .         .       g.46140
 ttttggtcctagatgatttttatcaaataagtggattgattagttaagttcaggtaatgt       c.*240

          .         .         .         .         .         .       g.46200
 ttatgtaatgaaaaacaaatagcatccttcttgtttcatttacataagtattttctgtgg       c.*300

          .         .         .         .         .         .       g.46260
 gaccgactctcaaggcactgtgtatgccctgcaagttggctgtctatgagcatttagaga       c.*360

          .         .         .         .         .         .       g.46320
 tttagaagaaaaatttagtttgtttaacccttgtaactgtttgttttgttgttgtttttt       c.*420

          .         .         .         .         .         .       g.46380
 tttcaagccaaatacatgacataagatcaataaagaggccaaatttttagctgttttatg       c.*480

          .         .         .         .         .         .       g.46440
 tacaaggagagatctgtttcattttgttttgccgtatttctagatataagttttagcatg       c.*540

          .         .         .         .         .         .       g.46500
 ggccaggaaggactaaaataaaagtttttaaggtactgtactttttgccatacttgactc       c.*600

          .         .         .         .         .         .       g.46560
 atatactcaaaatacagagttgtcttggtgtaggaattggaaagcaagagtggaaaggaa       c.*660

          .         .         .         .         .         .       g.46620
 cgtaataactcgttggagtttaaaaatgagggtcttggcaagtaacactgatgtctgaaa       c.*720

          .         .         .         .         .         .       g.46680
 aaaaattaaatataaataaataaataaaaatgagggtcctcagctgttctcttcatatcc       c.*780

          .         .         .         .         .         .       g.46740
 tattacagtctctcagattcttgtgggggcactcttagatctcccttggagacaaggtta       c.*840

          .         .         .         .         .         .       g.46800
 tagttatatgttgttaatctcgcagagcttccttttagtcacaatagccttcattttctg       c.*900

          .         .         .         .         .         .       g.46860
 ccatgccccttcataagggagaaggatgtttgtaccatgatcctccccgcataatctatg       c.*960

          .         .         .         .         .         .       g.46920
 gaattaggagtcctgtgtggagtcttatcaataaatatgcacattcatcaaatgtctact       c.*1020

          .         .         .         .         .         .       g.46980
 taaatgtgagtattctaccagtgagaaaaaacacataattttcaaggtaatcattgttaa       c.*1080

          .         .         .         .         .         .       g.47040
 accaacagcaaacttctttcttatcagcaccataaagtccagaagacagtagaaaagtat       c.*1140

          .         .         .         .         .         .       g.47100
 cttcaaagtgctgaggaaaataagtatcaacttagaattttatgtacaatattggaggca       c.*1200

          .         .         .         .         .         .       g.47160
 aaataaagacatgtttagacatacaaaactaagagagttgaattattaaaggttatattc       c.*1260

          .         .         .         .         .         .       g.47220
 caaggacaaaaaagaggatctgcccaaggtgaaggtatggcatacaagaaacaatggtca       c.*1320

          .         .         .         .         .         .       g.47280
 acagagaaataaaatatatggatgaatatatggataaatttgagtgttttatggattatc       c.*1380

          .         .         .         .         .         .       g.47340
 taatttaaggattatcccaagacagccctacaaggtaattactgttcttaccttcattta       c.*1440

          .         .         .         .         .         .       g.47400
 acagatgaggaaactggggcaggggaggttagtaacttgctctgcatcacagagctattg       c.*1500

          .         .         .         .         .         .       g.47460
 agtggcagtcaggatttgaattcaaccagtgtaaagcctaatagtccaggctgtcaagct       c.*1560

          .         .         .         .         .         .       g.47520
 ctatattacagcctcctcatgggtatgtggtgattctcttctcatcccatctcctcaact       c.*1620

          .         .         .         .         .         .       g.47580
 agagtgtgtgagctctctaaagttggactttgtctttttttttgttctccttattacaaa       c.*1680

          .         .         .         .         .         .       g.47640
 gtagtcaacgtgggtggaaacacagcaggagctcaataaaagcagatgaaagggaacaga       c.*1740

          .         .         .         .         .         .       g.47700
 agtccctattctgagactagttttatcagaaggatgtctgataatggatggtaatgactt       c.*1800

          .         .         .         .         .         .       g.47760
 ttaatggtcttttctccatatcattgaccactctaagcaaaataataattcgaatgataa       c.*1860

          .         .         .         .         .         .       g.47820
 tgaagaaaatgatgcccatgataacaataatgacaaatatgaaatggctaaaataaaaca       c.*1920

          .         .         .         .         .         .       g.47880
 tgaaaccatcctcaaaattctgccatcacctttttaaagtgagaatatatagcacactct       c.*1980

          .         .         .         .         .         .       g.47940
 atcactcataccctgaggctttgaagttggtgctttctaatcagacttcttatggaccag       c.*2040

          .         .         .         .         .         .       g.48000
 gttttcatatacaaattatgtttccatggtaaggaataaataagagggagaagttaaaaa       c.*2100

          .         .         .         .         .         .       g.48060
 ggagagattacatctattcaccctattcattaaaatttttttaaatttttttccaaatat       c.*2160

          .         .         .         .         .         .       g.48120
 gttctgcttatgtatattcactctattcttaaaagcacaataacaaagatatattacaga       c.*2220

          .         .         .         .         .         .       g.48180
 ggaaataaaactatcacaagaattaaattcaaggagttattaagggctactgcagcctca       c.*2280

          .         .         .         .         .         .       g.48240
 caattagttttttaaaatttcttgtcctgaagaaatttcaagactagttatttggatgac       c.*2340

          .         .         .         .         .         .       g.48300
 actctaggtccacagcatcaccagatcattggagatgacatttcaagacaggcctctgaa       c.*2400

          .         .         .         .         .         .       g.48360
 catctctcataacacataatttggttattttccctatgtaagatggattgtctcctgtct       c.*2460

          .         .         .         .         .         .       g.48420
 agggaagaaaaacagccattactaatatctgcattagtctactcaggttgcaatcataat       c.*2520

          .         .         .         .         .         .       g.48480
 atgctaaagtagtaaacttttaaaaatgacagtaaacctgagtttattaacaggttacat       c.*2580

          .         .         .         .         .         .       g.48540
 tctaaaagctaagctagtttggaaattggaaagcaaatgtgtgtagatattcatatgtcc       c.*2640

          .         .         .         .         .         .       g.48600
 ttgaccagactgggcctttctcttcccaggtaagtcattctctccaatggggccagttac       c.*2700

          .         .         .         .         .         .       g.48660
 ttaaaattacatcagacaattgatagagcttctagatcccccttctaaaacaaaagcatt       c.*2760

          .         .         .         .         .         .       g.48720
 ttgccacaaactaggatggagtaggtttttttcagactatttatacttattttatgtatt       c.*2820

          .         .         .         .         .         .       g.48780
 tcaatactgccctttaagtaaaagtactatatactttctctttttttagattaattctgc       c.*2880

          .         .         .         .         .         .       g.48840
 ttaagtcagtcttttaatttattctagtttgagtttttaaaaaattttagaatgaaaaat       c.*2940

          .         .         .         .         .         .       g.48900
 ctcaaaaatatactattatgtatatacactattttatatatatatatatatatatataga       c.*3000

          .         .         .         .         .         .       g.48960
 gagagagagagagagagagagagagagagagagagaaagagagaataaagaacacctagg       c.*3060

          .         .         .         .         .         .       g.49020
 taacccatcctccaccttcgacaattatcagctcctagctaatttgtgtcatctgtaacc       c.*3120

          .         .         .         .         .         .       g.49080
 ccacctgcttctgccctttctgtattattttgaagcaaatcttatcatttatctgtaaat       c.*3180

          .         .         .         .         .         .       g.49140
 atttcaggactttaaaaaatatgtgtaatctgaataccatttttacacctaagaaaatgg       c.*3240

          .         .         .         .         .         .       g.49200
 acaattccttaatataatgtgttgtctatagatgtcaaaaatttttgcagttttttggaa       c.*3300

          .         .         .         .         .         .       g.49260
 tcaggaaccaagtaaggtactgaatattgcagttagctgatacacatcctaaatttcttc       c.*3360

          .         .         .         .         .         .       g.49320
 aattgttgtggtcctcaaactagagtgtatcagaatcactagagccttgttagaacacaa       c.*3420

          .         .         .         .         .         .       g.49380
 actgctgggccccaccccagagctggtgatctgtaagtctgctgtggagtctgggaattt       c.*3480

          .         .         .         .         .         .       g.49440
 gcatctctaacaaattcccaggtgatgctgaagctgcaggtttggggttcactcacctat       c.*3540

          .         .         .         .         .         .       g.49500
 tggttcatcagcatctctctgccctcttacaatatatttgttgaagaagttgtgttgttt       c.*3600

          .         .         .         .         .         .       g.49560
 accttgtagagtttttcttagtttggattttggtgatagcatgctggttttttcatacta       c.*3660

          .         .         .         .         .         .       g.49620
 ttggttgtctctgtaatgcgagcagcttttgatctattaattaatgagatattaaaagtg       c.*3720

          .                                                         g.49632
 atggtattctaa                                                       c.*3732

 (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 and coiled-coil domains 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.