small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB) - coding DNA reference sequence

(used for variant description)

(last modified September 21, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_198216.1 in the SNRPB gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000020.10, covering SNRPB transcript NM_198216.1.

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

 (upstream sequence)
                     .         .         .         .                g.5043
                  aactccagggctagtgagctggaccggaagtaggtttctaccc       c.-121

 .         .         .         .         .         .                g.5103
 gaccgcattttacgtggtgctgcatttccggtagcggcggcgggaaatcggctgtgggag       c.-61

 .         .         .         .         .         .                g.5163
 agaggctaggcctctgaggaggcgaatccggcgggtatcagagccatcagaaccgccacc       c.-1

     | 02    .         .         .         .         .         .    g.8152
 ATG | ACGGTGGGCAAGAGCAGCAAGATGCTGCAGCATATTGATTACAGGATGAGGTGCATC    c.60
 M   | T  V  G  K  S  S  K  M  L  Q  H  I  D  Y  R  M  R  C  I      p.20

          .         .         .         .         .         .       g.8212
 CTGCAGGACGGCCGGATCTTCATTGGCACCTTCAAGGCTTTTGACAAGCACATGAATTTG       c.120
 L  Q  D  G  R  I  F  I  G  T  F  K  A  F  D  K  H  M  N  L         p.40

          .         .         .      | 03  .         .         .    g.10059
 ATCCTCTGTGACTGTGATGAGTTCAGAAAGATCAA | GCCAAAGAACTCCAAACAAGCAGAA    c.180
 I  L  C  D  C  D  E  F  R  K  I  K  |  P  K  N  S  K  Q  A  E      p.60

          .         .         .         .         .         .       g.10119
 AGGGAAGAGAAGCGAGTCCTCGGTCTGGTGCTGCTGCGAGGGGAGAATCTGGTCTCAATG       c.240
 R  E  E  K  R  V  L  G  L  V  L  L  R  G  E  N  L  V  S  M         p.80

          .         .        | 04.         .         .         .    g.11987
 ACAGTAGAGGGACCTCCTCCCAAAGAT | ACTGGTATTGCTCGAGTTCCACTTGCTGGAGCT    c.300
 T  V  E  G  P  P  P  K  D   | T  G  I  A  R  V  P  L  A  G  A      p.100

          .         .         .         .         .         .       g.12047
 GCCGGGGGCCCAGGGATCGGCAGGGCTGCTGGCAGAGGAATCCCAGCTGGGGTTCCCATG       c.360
 A  G  G  P  G  I  G  R  A  A  G  R  G  I  P  A  G  V  P  M         p.120

          .         .         .         .         .         .       g.12107
 CCCCAGGCTCCTGCAGGACTTGCTGGGCCAGTCCGTGGGGTTGGCGGGCCATCCCAACAG       c.420
 P  Q  A  P  A  G  L  A  G  P  V  R  G  V  G  G  P  S  Q  Q         p.140

  | 05       .         .         .         .         .         .    g.12686
  | GTGATGACCCCACAAGGAAGAGGTACTGTTGCAGCCGCTGCAGCTGCTGCCACAGCCAGT    c.480
  | V  M  T  P  Q  G  R  G  T  V  A  A  A  A  A  A  A  T  A  S      p.160

          .         .         .         .         .         .       g.12746
 ATTGCCGGGGCTCCAACCCAGTACCCACCTGGCCGTGGGGGTCCTCCCCCACCTATGGGC       c.540
 I  A  G  A  P  T  Q  Y  P  P  G  R  G  G  P  P  P  P  M  G         p.180

          .          | 06        .         .         .         .    g.13133
 CGAGGAGCACCCCCTCCAG | GCATGATGGGCCCACCTCCTGGTATGAGACCTCCTATGGGT    c.600
 R  G  A  P  P  P  G |   M  M  G  P  P  P  G  M  R  P  P  M  G      p.200

          .         .         .         .         .         .       g.13193
 CCCCCAATGGGGATCCCCCCTGGAAGAGGGACTCCAATGGGCATGCCCCCTCCGGGAATG       c.660
 P  P  M  G  I  P  P  G  R  G  T  P  M  G  M  P  P  P  G  M         p.220

          .         .      | 07  .         .         .         .    g.14095
 CGGCCTCCTCCCCCTGGGATGCGAG | GGCCCCCTCCCCCGGGAATGCGCCCACCAAGGCCC    c.720
 R  P  P  P  P  G  M  R  G |   P  P  P  P  G  M  R  P  P  R  P      p.240

                                                                    g.14098
 TAG                                                                c.723
 X                                                                  p.240

          .         .         .         .         .         .       g.14158
 actcatcttggccctcctcagctccctgcctgtttcccgtaaggctgtacatagtccttt       c.*60

          .         .         .         .         .         .       g.14218
 tatctccttgtggcctatgaaactggtttataataaactcttaagagaacattataattg       c.*120

                                                                    g.14219
 c                                                                  c.*121

 (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 Small nuclear ribonucleoprotein polypeptides B and B1 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.