SP110 nuclear body protein (SP110) - coding DNA reference sequence

(used for mutation description)

(last modified May 1, 2014)


This file was created to facilitate the description of sequence variants in the SP110 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering SP110 transcript NM_004509.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
 .         .         .         .         .         .                g.15198
 aagtgcccatgaggaggtggagagaggctgcaggcaccgacctgccttcagcttccggct       c.-181

 .         .         .         .         .         .                g.15258
 tggcaaactccgaaaactttcacttttcttttctcggaagcccggccccttactgcgttt       c.-121

 .         .         .         .         .         .                g.15318
 gtcaaagcacagacttcctgttttgcctgctagcatctccctgtaactctcccaatcttg       c.-61

 .         .         .         .         .         .         | 02    g.18323
 aggagtgatccctgtcccagcccctggaaaggggcaggaacgacaaactcaaagtccag | g    c.-1

          .         .         .         .         .         .       g.18383
 ATGTTCACCATGACAAGAGCCATGGAAGAGGCTCTTTTTCAGCACTTCATGCACCAGAAG       c.60
 M  F  T  M  T  R  A  M  E  E  A  L  F  Q  H  F  M  H  Q  K         p.20

          .         .         .         .         .         .       g.18443
 CTGGGGATCGCCTATGCCATACACAAGCCATTTCCCTTCTTTGAAGGCCTCCTAGACAAC       c.120
 L  G  I  A  Y  A  I  H  K  P  F  P  F  F  E  G  L  L  D  N         p.40

          .         .        | 03.         .         .         .    g.20165
 TCCATCATCACTAAGAGAATGTACATG | GAATCTCTGGAAGCCTGTAGAAATTTGATCCCT    c.180
 S  I  I  T  K  R  M  Y  M   | E  S  L  E  A  C  R  N  L  I  P      p.60

          .         .         .         .         .         .       g.20225
 GTATCCAGAGTGGTGCACAACATTCTCACCCAACTGGAGAGGACTTTTAACCTGTCTCTT       c.240
 V  S  R  V  V  H  N  I  L  T  Q  L  E  R  T  F  N  L  S  L         p.80

          .         .         .         .         .         .       g.20285
 CTGGTGACATTGTTCAGTCAAATTAACCTGCGTGAATATCCCAATCTGGTGACGATTTAC       c.300
 L  V  T  L  F  S  Q  I  N  L  R  E  Y  P  N  L  V  T  I  Y         p.100

          .       | 04 .         .         .         .         .    g.22267
 AGAAGCTTCAAACGTG | TTGGTGCTTCCTATGAATGGCAGAGCAGAGACACACCAATCCTA    c.360
 R  S  F  K  R  V |   G  A  S  Y  E  W  Q  S  R  D  T  P  I  L      p.120

          .         .         .         .         .         .       g.22327
 CTTGAAGCCCCAACTGGCCTAGCAGAAGGAAGCTCCCTCCATACCCCACTGGCGCTGCCC       c.420
 L  E  A  P  T  G  L  A  E  G  S  S  L  H  T  P  L  A  L  P         p.140

          .         .         .         .         .         .       g.22387
 CCACCACAACCCCCTCAACCAAGCTGTTCACCCTGTGCGCCAAGAGTCAGTGAGCCTGGA       c.480
 P  P  Q  P  P  Q  P  S  C  S  P  C  A  P  R  V  S  E  P  G         p.160

          .         .         .         .         .         .       g.22447
 ACATCCTCCCAGCAAAGCGATGAGATCCTGAGTGAGTCGCCCAGCCCATCTGACCCTGTC       c.540
 T  S  S  Q  Q  S  D  E  I  L  S  E  S  P  S  P  S  D  P  V         p.180

          .         .         .         .    | 05    .         .    g.22837
 CTGCCTCTCCCTGCACTCATCCAGGAAGGAAGAAGCACTTCAG | TGACCAATGACAAGTTA    c.600
 L  P  L  P  A  L  I  Q  E  G  R  S  T  S  V |   T  N  D  K  L      p.200

          .         .         .         .         .         .       g.22897
 ACATCCAAAATGAATGCGGAAGAAGACTCAGAAGAGATGCCCAGCCTCCTCACTAGCACT       c.660
 T  S  K  M  N  A  E  E  D  S  E  E  M  P  S  L  L  T  S  T         p.220

         | 06.         .         .         .         .         .    g.23750
 GTGCAAG | TGGCCAGTGACAACCTGATCCCCCAAATAAGAGATAAAGAAGACCCTCAAGAG    c.720
 V  Q  V |   A  S  D  N  L  I  P  Q  I  R  D  K  E  D  P  Q  E      p.240

          .         .         .  | 07      .         .         .    g.25271
 ATGCCCCACTCTCCCTTGGGCTCTATGCCAG | AGATAAGAGATAATTCTCCAGAACCAAAT    c.780
 M  P  H  S  P  L  G  S  M  P  E |   I  R  D  N  S  P  E  P  N      p.260

          .         .         .         .          | 08        .    g.27202
 GACCCAGAAGAGCCCCAGGAGGTGTCCAGCACACCTTCAGACAAGAAAG | GAAAGAAAAGA    c.840
 D  P  E  E  P  Q  E  V  S  S  T  P  S  D  K  K  G |   K  K  R      p.280

          .         .         .         .         .         | 09    g.32523
 AAAAGATGTATCTGGTCAACTCCAAAAAGGAGACATAAGAAAAAAAGCCTCCCAGGAG | GG    c.900
 K  R  C  I  W  S  T  P  K  R  R  H  K  K  K  S  L  P  G  G |       p.300

          .         .         .         .         .         .       g.32583
 ACAGCCTCATCTAGACACGGAATCCAAAAGAAGCTCAAAAGGGTGGATCAGGTTCCTCAA       c.960
 T  A  S  S  R  H  G  I  Q  K  K  L  K  R  V  D  Q  V  P  Q         p.320

          .         .         .         .         .         .       g.32643
 AAGAAAGATGACTCAACTTGTAACTCCACGGTAGAGACAAGGGCCCAAAAGGCGAGAACT       c.1020
 K  K  D  D  S  T  C  N  S  T  V  E  T  R  A  Q  K  A  R  T         p.340

          .         .         | 10         .         .         .    g.34316
 GAATGTGCCCGAAAGTCGAGATCAGAGG | AGATCATTGATGGCACTTCAGAAATGAATGAA    c.1080
 E  C  A  R  K  S  R  S  E  E |   I  I  D  G  T  S  E  M  N  E      p.360

          .         .         .         .          | 11        .    g.49117
 GGAAAGAGGTCCCAGAAGACGCCTAGTACACCACGAAGGGTCACACAAG | GGGCAGCCTCA    c.1140
 G  K  R  S  Q  K  T  P  S  T  P  R  R  V  T  Q  G |   A  A  S      p.380

          .         .         .         .         .         .       g.49177
 CCTGGGCATGGCATCCAAGAGAAGCTCCAAGTGGTGGATAAGGTGACTCAAAGGAAAGAC       c.1200
 P  G  H  G  I  Q  E  K  L  Q  V  V  D  K  V  T  Q  R  K  D         p.400

          .         .         .         .         .         .       g.49237
 GACTCAACCTGGAACTCAGAGGTCATGATGAGGGTCCAAAAGGCAAGAACTAAATGTGCC       c.1260
 D  S  T  W  N  S  E  V  M  M  R  V  Q  K  A  R  T  K  C  A         p.420

          .          | 12        .         .         .         .    g.51650
 CGAAAGTCCAGATTGAAAG | AAAAGAAAAAGGAGAAAGATATCTGTTCAAGCTCAAAAAGG    c.1320
 R  K  S  R  L  K  E |   K  K  K  E  K  D  I  C  S  S  S  K  R      p.440

          .         .         | 13         .         .         .    g.57026
 AGATTTCAGAAAAATATTCACCGAAGAG | GAAAACCCAAAAGTGACACTGTGGATTTTCAC    c.1380
 R  F  Q  K  N  I  H  R  R  G |   K  P  K  S  D  T  V  D  F  H      p.460

          .         .         .         .         .         .       g.57086
 TGTTCTAAGCTCCCCGTGACCTGTGGTGAGGCGAAAGGGATTTTATATAAGAAGAAAATG       c.1440
 C  S  K  L  P  V  T  C  G  E  A  K  G  I  L  Y  K  K  K  M         p.480

         | 14.         .         .         .         .         .    g.57622
 AAACACG | GATCCTCAGTGAAGTGCATTCGGAATGAGGATGGAACTTGGTTAACACCAAAT    c.1500
 K  H  G |   S  S  V  K  C  I  R  N  E  D  G  T  W  L  T  P  N      p.500

          .         .         .         .         .         .       g.57682
 GAATTTGAAGTCGAAGGAAAAGGAAGGAACGCAAAGAACTGGAAACGGAATATACGTTGT       c.1560
 E  F  E  V  E  G  K  G  R  N  A  K  N  W  K  R  N  I  R  C         p.520

          .         .         . | 15       .         .         .    g.62320
 GAAGGAATGACCCTAGGAGAGCTGCTGAAG | CGGAAAAACTCGGATGAATGCGAGGTGTGC    c.1620
 E  G  M  T  L  G  E  L  L  K   | R  K  N  S  D  E  C  E  V  C      p.540

          .         .         .         .         .         .       g.62380
 TGTCAAGGGGGACAACTTCTCTGCTGCGGTACTTGTCCACGAGTCTTCCATGAGGACTGT       c.1680
 C  Q  G  G  Q  L  L  C  C  G  T  C  P  R  V  F  H  E  D  C         p.560

          .         .       | 16 .         .         .         .    g.63109
 CACATCCCCCCTGTGGAAGCCAAGAG | GATGCTGTGGAGTTGCACCTTCTGCAGGATGAAG    c.1740
 H  I  P  P  V  E  A  K  R  |  M  L  W  S  C  T  F  C  R  M  K      p.580

          .         .         .         .         .         .       g.63169
 AGGTCTTCAGGAAGCCAACAGTGCCATCATGTATCTAAGACCCTGGAGAGGCAGATGCAG       c.1800
 R  S  S  G  S  Q  Q  C  H  H  V  S  K  T  L  E  R  Q  M  Q         p.600

          .      | 17  .         .         .         .         .    g.64533
 CCTCAGGACCAGCTG | ATTCGAGATTACGGTGAGCCCTTTCAGGAAGCAATGTGGTTGGAC    c.1860
 P  Q  D  Q  L   | I  R  D  Y  G  E  P  F  Q  E  A  M  W  L  D      p.620

          .         .         .         .         .         .       g.64593
 CTGGTTAAGGAAAGGCTGATTACGGAAATGTACACGGTGGCATGGTTTGTGCGAGACATG       c.1920
 L  V  K  E  R  L  I  T  E  M  Y  T  V  A  W  F  V  R  D  M         p.640

          .         .         .       | 18 .         .         .    g.66036
 CGCCTGATGTTTCGCAACCATAAAACATTTTACAAG | GCTTCTGACTTTGGCCAGGTAGGA    c.1980
 R  L  M  F  R  N  H  K  T  F  Y  K   | A  S  D  F  G  Q  V  G      p.660

          .         .         .         .         .         .       g.66096
 CTTGACTTAGAGGCAGAATTTGAAAAAGATCTCAAAGACGTGCTCGGTTTTCATGAAGCC       c.2040
 L  D  L  E  A  E  F  E  K  D  L  K  D  V  L  G  F  H  E  A         p.680

          .         .         .                                     g.66126
 AATGACGGCGGTTTCTGGACTCTTCCTTGA                                     c.2070
 N  D  G  G  F  W  T  L  P  X                                       p.689

          .         .         .         .         .         .       g.66186
 ccctgttctgtaaagactgaagcatccccacctcaggattcagctgatgggaccctggct       c.*60

          .         .         .         .         .         .       g.66246
 tggactgttgattgccagtgagtctgggatgtaattggctgccctcaggacccaaaccca       c.*120

          .         .         .         .         .         .       g.66306
 gacacttcataggattatcacaccctccatctttattctttctttttacctttaaaagtc       c.*180

          .         .                                               g.66332
 tatatctacactaaaaaaaaaaaaaa                                         c.*206

 (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 SP110 nuclear body protein 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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