calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1) - coding DNA reference sequence

(used for variant description)

(last modified July 18, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_001231.4 in the CASQ1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering CASQ1 transcript NM_001231.4.

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

 (upstream sequence)
                                                   .                g.5017
                                            aggggtgccaatttcag       c.-241

 .         .         .         .         .         .                g.5077
 ggggcagctccggttccctccccgccccctgctcctattcctccacctgaccctttttcc       c.-181

 .         .         .         .         .         .                g.5137
 cttggctctgtcggcagtttctccaggacccagcagtgccctctgtccactgctctgggc       c.-121

 .         .         .         .         .         .                g.5197
 cattccccaatcccccctcccacttgagcccctaactcagaatctgggacccaggggccc       c.-61

 .         .         .         .         .         .                g.5257
 ctccctaccccagctaacctcttctggaccaggagagccaacccagatcccactacctcc       c.-1

          .         .         .         .         .         .       g.5317
 ATGAGTGCTACAGACAGGATGGGGCCCAGAGCTGTGCCGGGTCTGCGGCTGGCACTGCTG       c.60
 M  S  A  T  D  R  M  G  P  R  A  V  P  G  L  R  L  A  L  L         p.20

          .         .         .         .         .         .       g.5377
 TTGCTGCTGGTGCTAGGGACACCCAAGTCAGGGGTACAGGGGCAGGAAGGGCTGGACTTC       c.120
 L  L  L  V  L  G  T  P  K  S  G  V  Q  G  Q  E  G  L  D  F         p.40

          .         .         .         .         .         .       g.5437
 CCTGAGTACGATGGTGTGGACCGTGTGATCAATGTCAATGCAAAGAACTACAAGAATGTG       c.180
 P  E  Y  D  G  V  D  R  V  I  N  V  N  A  K  N  Y  K  N  V         p.60

          .         .         .         .         .         .       g.5497
 TTCAAGAAGTATGAGGTGCTGGCACTCCTCTACCATGAACCCCCCGAGGATGACAAGGCC       c.240
 F  K  K  Y  E  V  L  A  L  L  Y  H  E  P  P  E  D  D  K  A         p.80

          .         .         .          | 02        .         .    g.7328
 TCACAAAGACAATTTGAGATGGAGGAGCTGATCCTGGAG | TTAGCAGCCCAAGTCCTAGAA    c.300
 S  Q  R  Q  F  E  M  E  E  L  I  L  E   | L  A  A  Q  V  L  E      p.100

          .         .         .         .         .         .       g.7388
 GACAAGGGTGTTGGCTTCGGGCTGGTAGACTCTGAGAAGGATGCAGCTGTGGCCAAGAAA       c.360
 D  K  G  V  G  F  G  L  V  D  S  E  K  D  A  A  V  A  K  K         p.120

      | 03   .         .         .         .         .         .    g.8308
 CTAG | GCCTAACTGAAGTGGACAGCATGTATGTATTCAAGGGAGATGAAGTCATTGAGTAC    c.420
 L  G |   L  T  E  V  D  S  M  Y  V  F  K  G  D  E  V  I  E  Y      p.140

          .         .         .         .      | 04  .         .    g.9532
 GATGGCGAGTTTTCTGCTGACACCATCGTGGAGTTTCTGCTTGAT | GTCCTAGAGGACCCT    c.480
 D  G  E  F  S  A  D  T  I  V  E  F  L  L  D   | V  L  E  D  P      p.160

          .         .         .         .         .         .       g.9592
 GTGGAATTGATTGAAGGTGAACGAGAGCTGCAGGCGTTTGAGAATATTGAGGATGAGATC       c.540
 V  E  L  I  E  G  E  R  E  L  Q  A  F  E  N  I  E  D  E  I         p.180

          .         .         .        | 05.         .         .    g.9989
 AAACTCATTGGCTACTTCAAGAGCAAAGACTCAGAGC | ATTACAAAGCCTTCGAGGATGCA    c.600
 K  L  I  G  Y  F  K  S  K  D  S  E  H |   Y  K  A  F  E  D  A      p.200

          .         .         .         .         .  | 06      .    g.10411
 GCTGAGGAGTTTCATCCCTACATCCCCTTCTTCGCCACCTTCGACAGCAAG | GTGGCAAAG    c.660
 A  E  E  F  H  P  Y  I  P  F  F  A  T  F  D  S  K   | V  A  K      p.220

          .         .         .         .         .         .       g.10471
 AAGCTGACCCTGAAGCTGAATGAGATTGATTTCTACGAGGCCTTCATGGAAGAGCCTGTG       c.720
 K  L  T  L  K  L  N  E  I  D  F  Y  E  A  F  M  E  E  P  V         p.240

          .         .         .         .         .         .       g.10531
 ACCATCCCAGACAAGCCCAATAGCGAAGAGGAGATTGTCAACTTCGTGGAGGAGCACAGG       c.780
 T  I  P  D  K  P  N  S  E  E  E  I  V  N  F  V  E  E  H  R         p.260

    | 07     .         .         .         .         | 08         . g.13194
 AG | ATCAACCCTGAGGAAACTGAAGCCGGAGAGTATGTATGAGACCTGG | GAGGATGATATG c.840
 R  |  S  T  L  R  K  L  K  P  E  S  M  Y  E  T  W   | E  D  D  M   p.280

          .         .         .         .    | 09    .         .    g.13475
 GATGGAATCCACATTGTGGCCTTCGCAGAGGAAGCTGATCCTG | ATGGTTTCGAGTTCTTA    c.900
 D  G  I  H  I  V  A  F  A  E  E  A  D  P  D |   G  F  E  F  L      p.300

          .         .         .         .         .         .       g.13535
 GAGACTCTCAAGGCTGTGGCCCAAGATAACACTGAAAACCCAGATCTTAGCATCATCTGG       c.960
 E  T  L  K  A  V  A  Q  D  N  T  E  N  P  D  L  S  I  I  W         p.320

          .         .     | 10   .         .         .         .    g.14392
 ATTGACCCTGATGACTTCCCCCTG | CTGGTCCCATACTGGGAGAAGACGTTTGACATCGAC    c.1020
 I  D  P  D  D  F  P  L   | L  V  P  Y  W  E  K  T  F  D  I  D      p.340

          .         .         .          | 11        .         .    g.15771
 TTGTCAGCCCCACAAATAGGAGTCGTCAATGTTACTGAT | GCGGATAGCGTATGGATGGAA    c.1080
 L  S  A  P  Q  I  G  V  V  N  V  T  D   | A  D  S  V  W  M  E      p.360

          .         .         .         .         .         .       g.15831
 ATGGACGATGAGGAGGACCTGCCTTCTGCTGAGGAGCTGGAGGACTGGCTGGAGGATGTC       c.1140
 M  D  D  E  E  D  L  P  S  A  E  E  L  E  D  W  L  E  D  V         p.380

          .         .         .         .         .                 g.15882
 CTGGAGGGCGAGATCAACACAGAGGACGATGACGATGATGATGATGACTAG                c.1191
 L  E  G  E  I  N  T  E  D  D  D  D  D  D  D  D  X                  p.396

          .         .         .         .         .         .       g.15942
 ttgctatggcaaccatctttcagccccactggtcttttcatgctctctcctgccttccct       c.*60

          .         .         .         .         .         .       g.16002
 tgtccttccctgagttcctccagggagactaggttattctctgccatagagctaactggg       c.*120

          .         .         .         .         .         .       g.16062
 gtctatatgctgggtgctgagacactgatccccctcatttgatgagcaaatgagctactt       c.*180

          .         .         .         .         .         .       g.16122
 ttccctagacaccaggccagctctctcttatctgacttctgtttcttatcccataactta       c.*240

          .         .         .         .         .         .       g.16182
 cttgtatctattatgtgtctcttccatcactctccatactctttcttgtgattctcctct       c.*300

          .         .         .         .         .         .       g.16242
 agccatatatatgggccccatctctgttctgttccctccatctatgcacagctttccccc       c.*360

          .         .         .         .         .         .       g.16302
 actctctctaatcctgtatctttctgactgtcctgtccttggccagaaggaagggagaat       c.*420

          .         .         .         .         .         .       g.16362
 actgtgtttgggactgtatctcagcaatcacttgttaatgtatttgggtcaaatgagagg       c.*480

          .         .         .                                     g.16392
 cctcaataaagacatctggggcagcatgaa                                     c.*510

 (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 Calsequestrin 1 (fast-twitch, skeletal muscle) 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.