Myotilin (Titin immunoglobulin domain) (MYOT) - coding DNA reference sequence

(used for mutation description)

(last modified November 27, 2010)


This file was created to facilitate the description of sequence variants in the MYOT gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008894.1, covering MYOT transcript variant-1 (NM_006790.2). Transcript variant-2  (NM_001135940.1) uses an alternative splice site in exon 2 and a translation initiation site in exon 4.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5009
                                                    aagcacaga       c.-301

 .         .         .         .         .         .                g.5069
 gccactagattagtctgtgagggaaggagatgcctcttccttcccttcaatagtgggtta       c.-241

 .         .         .         | 02         .         .             g.7616
 aacccagctggcaccctctggaactacgg | gaacaatattcttcaagagaaggtcactcta    c.-181

 .         .         .         .         .         .    /              g.7676
 ccaaagccaggagcacagtattctcaggatctcaacaaggaagagcagaccaag / gttgct       c.-121
                               alternative splice site  ^

 .         .         .         .         .         .                g.7736
 tctgattccttacaaccttccgtaattccaggcttgtggccccaaattcagggccccacc       c.-61

 .         .         .         .         .         .                g.7796
 cttccaggaacaaatcattatagtaataatttgccttcatcttccatataccaactaagc       c.-1

          .         .         .         .         .         .       g.7856
 ATGTTTAACTACGAACGTCCAAAACACTTCATCCAGTCCCAAAACCCATGTGGCTCCAGA       c.60
 M  F  N  Y  E  R  P  K  H  F  I  Q  S  Q  N  P  C  G  S  R         p.20

          .         .         .         .         .         .       g.7916
 TTGCAGCCTCCTGGACCAGAAACCTCCAGCTTCTCTAGCCAGACCAAACAGTCTTCCATT       c.120
 L  Q  P  P  G  P  E  T  S  S  F  S  S  Q  T  K  Q  S  S  I         p.40

          .         .         .         .         .         .       g.7976
 ATCATCCAGCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAACACTGAGCTCT       c.180
 I  I  Q  P  R  Q  C  T  E  Q  R  F  S  A  S  S  T  L  S  S         p.60

          .         .         .         .         .         .       g.8036
 CACATCACCATGTCCTCCTCTGCTTTCCCTGCTTCTCCCCAGCAGCATGCTGGCTCCAAC       c.240
 H  I  T  M  S  S  S  A  F  P  A  S  P  Q  Q  H  A  G  S  N         p.80

          .         .         .         .         .         .       g.8096
 CCAGGCCAAAGGGTTACAACCACCTATAACCAGTCCCCAGCCAGCTTCCTCAGCTCCATA       c.300
 P  G  Q  R  V  T  T  T  Y  N  Q  S  P  A  S  F  L  S  S  I         p.100

          .         .         .         .         .       | 03 .    g.12977
 TTACCATCACAGCCTGATTACAATAGCAGTAAAATCCCTTCCGCTATGGATTCCAA | CTAT    c.360
 L  P  S  Q  P  D  Y  N  S  S  K  I  P  S  A  M  D  S  N  |  Y      p.120

          .         .         .         .         .         .       g.13037
 CAACAGTCCTCAGCTGGCCAACCTATAAATGCAAAGCCATCCCAAACTGCAAATGCTAAG       c.420
 Q  Q  S  S  A  G  Q  P  I  N  A  K  P  S  Q  T  A  N  A  K         p.140

          .         .         .         .         .         .       g.13097
 CCCATACCAAGAACTCCTGATCATGAAATACAAGGATCAAAAGAAGCTTTGATTCAAGAT       c.480
 P  I  P  R  T  P  D  H  E  I  Q  G  S  K  E  A  L  I  Q  D         p.160

          .         .         .         .         .  | 04      .    g.14673
 TTGGAAAGAAAGCTGAAATGCAAGGACACCCTTCTTCATAATGGAAATCAA | CGTCTAACA    c.540
 L  E  R  K  L  K  C  K  D  T  L  L  H  N  G  N  Q   | R  L  T      p.180

          .         .         .         .         .         .       g.14733
 TATGAAGAGAAGATGGCTCGCAGATTGCTAGGACCACAGAATGCAGCTGCTGTGTTTCAA       c.600
 Y  E  E  K  M  A  R  R  L  L  G  P  Q  N  A  A  A  V  F  Q         p.200
             ^  translation initiation site transcript variant 2

          .         .         .    | 05    .         .         .    g.17987
 GCTCAGGATGACAGTGGTGCACAAGACTCGCAG | CAACACAACTCAGAACATGCGCGACTG    c.660
 A  Q  D  D  S  G  A  Q  D  S  Q   | Q  H  N  S  E  H  A  R  L      p.220

          .         .    | 06    .         .         .         .    g.19154
 CAAGTTCCTACATCACAAGTAAG | AAGTAGATCAACCTCAAGGGGAGATGTGAATGATCAG    c.720
 Q  V  P  T  S  Q  V  R  |  S  R  S  T  S  R  G  D  V  N  D  Q      p.240

          .         .         .         .         .         .       g.19214
 GATGCAATCCAGGAGAAATTTTACCCACCACGTTTCATTCAAGTGCCAGAGAACATGTCG       c.780
 D  A  I  Q  E  K  F  Y  P  P  R  F  I  Q  V  P  E  N  M  S         p.260

          .         .         .       | 07 .         .         .    g.20552
 ATTGATGAAGGAAGATTCTGCAGAATGGACTTCAAA | GTGAGTGGACTGCCAGCTCCTGAT    c.840
 I  D  E  G  R  F  C  R  M  D  F  K   | V  S  G  L  P  A  P  D      p.280

          .         .         .         .         .         .       g.20612
 GTGTCATGGTATCTAAATGGAAGAACAGTTCAATCAGATGATTTGCACAAAATGATAGTG       c.900
 V  S  W  Y  L  N  G  R  T  V  Q  S  D  D  L  H  K  M  I  V         p.300

          .         .         .         .         .         .       g.20672
 TCTGAGAAGGGTCTTCATTCACTCATCTTTGAAGTAGTCAGAGCTTCAGATGCAGGGGCT       c.960
 S  E  K  G  L  H  S  L  I  F  E  V  V  R  A  S  D  A  G  A         p.320

          .         .         .         .         .         .       g.20732
 TATGCATGTGTTGCCAAGAATAGAGCAGGAGAAGCCACCTTCACTGTGCAGCTGGATGTC       c.1020
 Y  A  C  V  A  K  N  R  A  G  E  A  T  F  T  V  Q  L  D  V         p.340

      | 08   .         .         .         .         .         .    g.23248
 CTTG | CAAAAGAACATAAAAGAGCACCAATGTTTATCTACAAACCACAGAGCAAAAAAGTT    c.1080
 L  A |   K  E  H  K  R  A  P  M  F  I  Y  K  P  Q  S  K  K  V      p.360

          .         .         .         .         .         .       g.23308
 TTAGAGGGAGATTCAGTGAAACTAGAATGCCAGATCTCGGCTATACCTCCACCAAAGCTT       c.1140
 L  E  G  D  S  V  K  L  E  C  Q  I  S  A  I  P  P  P  K  L         p.380

          .         .         .         .         . | 09       .    g.24018
 TTCTGGAAAAGAAATAATGAAATGGTACAATTCAACACTGACCGAATAAG | CTTATATCAA    c.1200
 F  W  K  R  N  N  E  M  V  Q  F  N  T  D  R  I  S  |  L  Y  Q      p.400

          .         .         .         .         .         .       g.24078
 GATAACACTGGAAGAGTTACTTTACTGATAAAAGATGTAAACAAGAAAGATGCTGGGTGG       c.1260
 D  N  T  G  R  V  T  L  L  I  K  D  V  N  K  K  D  A  G  W         p.420

          .         .         .         .         .         .       g.24138
 TATACTGTGTCAGCAGTTAATGAAGCTGGAGTGACTACATGTAACACAAGATTAGACGTT       c.1320
 Y  T  V  S  A  V  N  E  A  G  V  T  T  C  N  T  R  L  D  V         p.440

      | 10   .         .         .         .         .         .    g.24413
 ACGG | CACGTCCAAACCAAACTCTTCCAGCTCCTAAGCAGTTACGGGTTCGACCAACATTC    c.1380
 T  A |   R  P  N  Q  T  L  P  A  P  K  Q  L  R  V  R  P  T  F      p.460

          .         .         .         .         .         .       g.24473
 AGCAAATATTTAGCACTTAATGGGAAAGGTTTGAATGTAAAACAAGCTTTTAACCCAGAA       c.1440
 S  K  Y  L  A  L  N  G  K  G  L  N  V  K  Q  A  F  N  P  E         p.480

          .         .         .         .         .                 g.24530
 GGAGAATTTCAGCGTTTGGCAGCTCAATCTGGACTCTATGAAAGTGAAGAACTTTAA          c.1497
 G  E  F  Q  R  L  A  A  Q  S  G  L  Y  E  S  E  E  L  X            p.498

          .         .         .         .         .         .       g.24590
 taactttaccaacattggaaaacagccaactacaccattagtaatatatttgattacatt       c.*60

          .         .         .         .         .         .       g.24650
 tttttgaaattaatccatagctgtattaacagattatggttttaattaggtaatatagtt       c.*120

          .         .         .         .         .         .       g.24710
 aatatatatttataatattatttatcctttgactcttgcacattctatgtacccctccga       c.*180

          .         .         .         .         .         .       g.24770
 tttgtgaagcctacaggaaatctgggtatatggatttgtaactgcagaagactatcttaa       c.*240

          .         .         .         .         .         .       g.24830
 aatacaggattttaacatttaagtcatgcacatttaacaattacaggttataaattagta       c.*300

          .         .         .         .         .         .       g.24890
 tcaactttttaaacacatctaatgcttgtaataacgtttactggtactgctttctaaata       c.*360

          .         .         .         .         .         .       g.24950
 ctgttttacccgttttctcttgtaggaatactaacatggtatagattatctgagtgttcc       c.*420

          .         .         .         .                           g.24996
 acagttgtatgtcaaaagaaaataaaattcaaatatttaaaacgga                     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 10th nucleotide is indicated by a "." above the sequence. The Myotilin (Titin immunoglobulin domain) 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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