crystallin, beta A1 (CRYBA1) - 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_005208.4 in the CRYBA1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008037.1, covering CRYBA1 transcript NM_005208.4.

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

 (upstream sequence)
                                                                    g.5007
                                                      gtaccag       c.-1

          .         .         .  | 02      .         .         .    g.7314
 ATGGAGACCCAGGCTGAGCAGCAGGAGCTGG | AAACCCTTCCAACCACCAAGATGGCTCAG    c.60
 M  E  T  Q  A  E  Q  Q  E  L  E |   T  L  P  T  T  K  M  A  Q      p.20

          .         .         .       | 03 .         .         .    g.8349
 ACCAACCCTACGCCGGGGTCCCTGGGGCCATGGAAG | ATAACCATCTATGATCAGGAGAAC    c.120
 T  N  P  T  P  G  S  L  G  P  W  K   | I  T  I  Y  D  Q  E  N      p.40

          .         .         .         .         .         .       g.8409
 TTTCAGGGCAAGAGGATGGAGTTCACCAGCTCCTGTCCAAATGTCTCTGAGCGCAGTTTT       c.180
 F  Q  G  K  R  M  E  F  T  S  S  C  P  N  V  S  E  R  S  F         p.60

          .         .         .      | 04  .         .         .    g.10232
 GATAATGTCCGGTCCCTGAAGGTGGAAAGTGGCGC | CTGGATTGGTTATGAGCATACCAGC    c.240
 D  N  V  R  S  L  K  V  E  S  G  A  |  W  I  G  Y  E  H  T  S      p.80

          .         .         .         .         .         .       g.10292
 TTCTGTGGGCAACAGTTTATCCTGGAGAGAGGAGAATACCCTCGCTGGGATGCCTGGAGT       c.300
 F  C  G  Q  Q  F  I  L  E  R  G  E  Y  P  R  W  D  A  W  S         p.100

          .         .         .         .         .        | 05.    g.11786
 GGGAGTAATGCCTACCACATTGAGCGTCTCATGTCCTTCCGCCCCATCTGTTCAGCT | AAT    c.360
 G  S  N  A  Y  H  I  E  R  L  M  S  F  R  P  I  C  S  A   | N      p.120

          .         .         .         .         .         .       g.11846
 CATAAGGAGTCTAAGATGACCATCTTTGAGAAGGAAAACTTTATTGGACGCCAGTGGGAG       c.420
 H  K  E  S  K  M  T  I  F  E  K  E  N  F  I  G  R  Q  W  E         p.140

          .         .         .         .         .         .       g.11906
 ATCTCTGACGACTACCCCTCCTTGCAAGCCATGGGCTGGTTCAACAACGAAGTCGGCTCC       c.480
 I  S  D  D  Y  P  S  L  Q  A  M  G  W  F  N  N  E  V  G  S         p.160

          .         . | 06       .         .         .         .    g.12385
 ATGAAGATACAAAGTGGGGC | CTGGGTTTGCTACCAATATCCTGGATATCGTGGGTATCAG    c.540
 M  K  I  Q  S  G  A  |  W  V  C  Y  Q  Y  P  G  Y  R  G  Y  Q      p.180

          .         .         .         .         .         .       g.12445
 TATATCTTGGAATGTGACCATCATGGAGGAGACTATAAACATTGGAGAGAGTGGGGCTCT       c.600
 Y  I  L  E  C  D  H  H  G  G  D  Y  K  H  W  R  E  W  G  S         p.200

          .         .         .         .                           g.12493
 CATGCCCAGACTTCGCAGATCCAATCGATTCGCCGAATCCAACAGTAG                   c.648
 H  A  Q  T  S  Q  I  Q  S  I  R  R  I  Q  Q  X                     p.215

          .         .         .         .         .         .       g.12553
 ctgattaaaagctccaagtacgataattcctcaagcatgagaccttgctaagcactctag       c.*60

          .         .         .         .         .         .       g.12613
 aataagttttatgttctgctcacagacattgctttcaaatgttagctgctgaaatccaca       c.*120

          .         .                                               g.12638
 ataaacgtcatttaaaaaaaaaaaa                                          c.*145

 (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 A1 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.