cerebral cavernous malformation 2 (CCM2) - coding DNA reference sequence

(used for variant description)

(last modified February 13, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_031443.3 in the CCM2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016295.1, covering CCM2 transcript NM_031443.3.

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

 (upstream sequence)
                                         .         .                g.5026
                                   gcgcggccggggcggagacttcgggc       c.-121

 .         .         .         .         .         .                g.5086
 ccggctggcgggcggcgccgggagcgcgggggcggcgggcccgggtcgagcatgtagcgg       c.-61

 .         .         .         .         .         .                g.5146
 ctgctggcggcggggctcccggggcgggccgggcgggccgcgggagccgcacgcggcgat       c.-1

          .         .         . | 02       .         .         .    g.43095
 ATGGAAGAGGAGGGCAAGAAGGGCAAGAAG | CCTGGAATTGTCTCGCCATTTAAACGAGTA    c.60
 M  E  E  E  G  K  K  G  K  K   | P  G  I  V  S  P  F  K  R  V      p.20

          .         .         .         .         .         .       g.43155
 TTCCTAAAAGGTGAAAAGAGTAGAGATAAGAAAGCCCATGAGAAGGTGACAGAGAGGCGC       c.120
 F  L  K  G  E  K  S  R  D  K  K  A  H  E  K  V  T  E  R  R         p.40

          .         .         .         .         .         .       g.43215
 CCTCTGCACACTGTGGTGTTGTCATTGCCTGAGCGCGTCGAGCCAGACAGACTGCTGAGC       c.180
 P  L  H  T  V  V  L  S  L  P  E  R  V  E  P  D  R  L  L  S         p.60

          .         .     | 03   .         .         .         .    g.68766
 GACTATATTGAGAAGGAGGTAAAG | TATTTAGGTCAGTTAACGTCCATACCAGGATACCTG    c.240
 D  Y  I  E  K  E  V  K   | Y  L  G  Q  L  T  S  I  P  G  Y  L      p.80

          .         .         .         .         | 04         .    g.69287
 AATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAG | AGAGCCCACCAG    c.300
 N  P  S  S  R  T  E  I  L  H  F  I  D  N  A  K   | R  A  H  Q      p.100

          .         .         .         .         .         .       g.69347
 CTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCGTACAACGTC       c.360
 L  P  G  H  L  T  Q  E  H  D  A  V  L  S  L  S  A  Y  N  V         p.120

          .         .         .         .         .         .       g.69407
 AAGCTGGCCTGGAGGGACGGGGAGGATATCATCCTCAGGGTGCCCATCCATGACATCGCC       c.420
 K  L  A  W  R  D  G  E  D  I  I  L  R  V  P  I  H  D  I  A         p.140

          .         .         .         .         .   | 05     .    g.73263
 GCCGTCTCCTATGTTCGGGATGACGCTGCACACCTGGTGGTCCTGAAGACAG | CCCAGGAC    c.480
 A  V  S  Y  V  R  D  D  A  A  H  L  V  V  L  K  T  A |   Q  D      p.160

          .         .         .         .         .         .       g.73323
 CCAGGGATCTCCCCCAGCCAGAGTCTGTGTGCGGAAAGTTCCAGAGGCCTCAGTGCAGGC       c.540
 P  G  I  S  P  S  Q  S  L  C  A  E  S  S  R  G  L  S  A  G         p.180

          .         .         .         .         .         .       g.73383
 TCCCTGTCGGAGAGTGCAGTTGGGCCCGTGGAGGCATGCTGCCTGGTCATCCTGGCTGCA       c.600
 S  L  S  E  S  A  V  G  P  V  E  A  C  C  L  V  I  L  A  A         p.200

           | 06        .         .         .         .         .    g.74689
 GAGAGCAAG | GTCGCTGCGGAGGAGCTTTGCTGTCTGCTAGGCCAGGTCTTCCAGGTTGTT    c.660
 E  S  K   | V  A  A  E  E  L  C  C  L  L  G  Q  V  F  Q  V  V      p.220

          .         .         .         .         .         .       g.74749
 TACACGGAGTCCACCATCGACTTTCTGGACAGAGCGATATTTGATGGGGCCTCTACCCCG       c.720
 Y  T  E  S  T  I  D  F  L  D  R  A  I  F  D  G  A  S  T  P         p.240

          .         .      | 07  .         .         .         .    g.77573
 ACCCACCACCTGTCCCTGCACAGCG | ATGACTCTTCTACAAAAGTGGACATTAAGGAGACC    c.780
 T  H  H  L  S  L  H  S  D |   D  S  S  T  K  V  D  I  K  E  T      p.260

          .         .    | 08    .         .         .         .    g.78309
 TACGAGGTGGAAGCCAGCACTTT | CTGCTTCCCTGAATCTGTGGATGTGGGTGGTGCATCA    c.840
 Y  E  V  E  A  S  T  F  |  C  F  P  E  S  V  D  V  G  G  A  S      p.280

          .         .         .         .         .         .       g.78369
 CCCCACAGCAAGACCATCAGTGAGAGCGAGCTGAGCGCCAGCGCCACTGAGCTGCTGCAG       c.900
 P  H  S  K  T  I  S  E  S  E  L  S  A  S  A  T  E  L  L  Q         p.300

          .      | 09  .         .         .         .         .    g.79127
 GACTACATGCTGACG | CTGCGCACCAAGCTGTCATCACAGGAGATCCAGCAGTTTGCAGCA    c.960
 D  Y  M  L  T   | L  R  T  K  L  S  S  Q  E  I  Q  Q  F  A  A      p.320

          .         .         .         .         .         .       g.79187
 CTGCTGCACGAGTACCGCAATGGGGCCTCTATCCACGAGTTCTGCATCAACCTGCGGCAG       c.1020
 L  L  H  E  Y  R  N  G  A  S  I  H  E  F  C  I  N  L  R  Q         p.340

          .         .         .     | 10   .         .         .    g.80615
 CTCTACGGGGACAGCCGCAAGTTCCTGCTGCTTG | GTCTGAGGCCCTTCATCCCTGAGAAG    c.1080
 L  Y  G  D  S  R  K  F  L  L  L  G |   L  R  P  F  I  P  E  K      p.360

          .         .         .         .         .         .       g.80675
 GACAGCCAGCACTTCGAGAACTTCCTGGAGACCATTGGCGTGAAGGATGGCCGCGGCATC       c.1140
 D  S  Q  H  F  E  N  F  L  E  T  I  G  V  K  D  G  R  G  I         p.380

          .         .         .         .         .         .       g.80735
 ATCACTGACAGCTTTGGCAGGCACCGGCGGGCCCTGAGCACCACATCCAGTTCCACCACC       c.1200
 I  T  D  S  F  G  R  H  R  R  A  L  S  T  T  S  S  S  T  T         p.400

          .         .         .         .         .         .       g.80795
 AATGGGAACAGGGCCACGGGCAGCTCTGATGACCGGTCGGCACCCTCAGAGGGGGATGAG       c.1260
 N  G  N  R  A  T  G  S  S  D  D  R  S  A  P  S  E  G  D  E         p.420

          .         .         .         .         .         .       g.80855
 TGGGACCGCATGATCTCGGACATCAGCAGCGACATTGAGGCGCTGGGCTGCAGCATGGAC       c.1320
 W  D  R  M  I  S  D  I  S  S  D  I  E  A  L  G  C  S  M  D         p.440

          .                                                         g.80870
 CAGGACTCAGCATGA                                                    c.1335
 Q  D  S  A  X                                                      p.444

          .         .         .         .         .         .       g.80930
 tggacagtggatgggggggcacccacaccttccgcgcagtcgtcataggccttcccagaa       c.*60

          .         .         .         .         .         .       g.80990
 ggagctgcccagacctgcgtgtcagcccttggtggtggccagggagaggcgcccggtgca       c.*120

          .         .         .         .         .         .       g.81050
 gatggccccgggcggcccaggtcctctactgtgaaggagcagggagctgccgagggacac       c.*180

          .         .         .         .         .         .       g.81110
 gagcctcagtgcggggtggaaggctctttgccttgtccaccagggctcagccaagccctg       c.*240

          .         .         .         .         .         .       g.81170
 cagtgtgtccccgctcggggagggcccggccgagcgggcagggagagccagtcctgtcgg       c.*300

          .         .         .         .         .         .       g.81230
 ctgggcccttggacggctgtcagttttgcacatgatgttcctattgtaactctcagagac       c.*360

          .         .         .         .         .                 g.81283
 cttaaaaagaagtttactgcaatgtgaataatttaatctctggttgccaagca              c.*413

 (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 Cerebral cavernous malformation 2 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.