crystallin, beta A2 (CRYBA2) - coding DNA reference sequence

(used for variant description)

(last modified March 7, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_057093.1 in the CRYBA2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_029384.1, covering CRYBA2 transcript NM_057093.1.

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

 (upstream sequence)
                     .         .         .         .                g.5049
            atttccctcgcgtgccgcgctcacccacccggtgaatgccctctgctgg       c.-181

 .         .         .         .         .         .                g.5109
 ggtggggaagggaggggagcgcgggaagactgcgagcccctggcagccgggtccagagct       c.-121

 .         .         .         .         .         .                g.5169
 aggccgggtccagcccccgggttcttcatccgctacccaggttgggcaggctgtgtgtgg       c.-61

 .         .         .         .         .         .                g.5229
 ctcgaaacggggctcttgagacgctgagcgcgtggtgccacccttcctgtccgcagcggc       c.-1

          .         .         .         .         .         .       g.5289
 ATGAGCAGCGCCCCCGCGCCGGGCCCGGCGCCCGCCAGCCTCACGCTCTGGGACGAGGAG       c.60
 M  S  S  A  P  A  P  G  P  A  P  A  S  L  T  L  W  D  E  E         p.20

          .         .         .         .         .         .       g.5349
 GACTTCCAGGGCCGTCGCTGTCGGCTGCTAAGCGACTGTGCGAACGTCTGCGAGCGCGGA       c.120
 D  F  Q  G  R  R  C  R  L  L  S  D  C  A  N  V  C  E  R  G         p.40

          .         .         .         .  | 02      .         .    g.6181
 GGCCTGCCCAGGGTGCGCTCGGTCAAGGTGGAAAACGGCGT | TTGGGTGGCCTTTGAGTAC    c.180
 G  L  P  R  V  R  S  V  K  V  E  N  G  V  |  W  V  A  F  E  Y      p.60

          .         .         .         .         .         .       g.6241
 CCCGACTTCCAGGGACAGCAGTTCATTCTGGAGAAGGGAGACTATCCTCGCTGGAGCGCC       c.240
 P  D  F  Q  G  Q  Q  F  I  L  E  K  G  D  Y  P  R  W  S  A         p.80

          .         .         .         .         .         .       g.6301
 TGGAGTGGCAGCAGCAGCCACAACAGCAACCAGCTGCTGTCCTTCCGGCCAGTGCTCTGC       c.300
 W  S  G  S  S  S  H  N  S  N  Q  L  L  S  F  R  P  V  L  C         p.100

     | 03    .         .         .         .         .         .    g.7468
 GCG | AACCACAATGACAGCCGTGTGACACTGTTTGAGGGGGACAACTTCCAAGGCTGCAAG    c.360
 A   | N  H  N  D  S  R  V  T  L  F  E  G  D  N  F  Q  G  C  K      p.120

          .         .         .         .         .         .       g.7528
 TTTGACCTCGTTGATGACTACCCATCCCTGCCCTCCATGGGCTGGGCCAGCAAGGATGTG       c.420
 F  D  L  V  D  D  Y  P  S  L  P  S  M  G  W  A  S  K  D  V         p.140

          .         .       | 04 .         .         .         .    g.8040
 GGTTCCCTCAAAGTCAGCTCCGGAGC | GTGGGTGGCCTACCAGTACCCAGGCTACCGAGGC    c.480
 G  S  L  K  V  S  S  G  A  |  W  V  A  Y  Q  Y  P  G  Y  R  G      p.160

          .         .         .         .         .         .       g.8100
 TACCAGTATGTGTTGGAGCGGGACCGGCACAGCGGAGAGTTCTGTACTTACGGTGAGCTC       c.540
 Y  Q  Y  V  L  E  R  D  R  H  S  G  E  F  C  T  Y  G  E  L         p.180

          .         .         .         .         .                 g.8154
 GGCACACAGGCCCACACTGGGCAGCTGCAGTCCATCCGGAGAGTCCAGCACTAG             c.594
 G  T  Q  A  H  T  G  Q  L  Q  S  I  R  R  V  Q  H  X               p.197

          .         .         .         .         .         .       g.8214
 gctccacggccccagacaccttccctgaggacactcaataaaggttcctgaatcttcctg       c.*60

                                                                    g.8216
 cc                                                                 c.*62

 (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 Crystallin, beta A2 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.