Integrin, alpha 7 (ITGA7) - coding DNA reference sequence

(used for mutation description)

(last modified November 26, 2010)


This file was created to facilitate the description of sequence variants in the ITGA7 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_012343.1, covering ITGA7 transcript variant-2 (NM_002206.2). Transcript variant-3 (NM_001144997.1) uses an upstream alternative promoter/exon 01a, combined with unique exons 02a / 03a and an alternatively spliced with exon 05a (in intron 04). Transcript variant-1 (NM_001144996.1) contains exon 05a instead of exon 05.

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.9443
                     gggcgccggagctgcggctgctgtagttgtcctagccggt       c.-181

 .         .         .         .         .         .                g.9503
 gctggggcggcggggtggcggagcggcgggcgggcgggagggctggcggggcgaacgtct       c.-121

 .         .         .         .         .         .                g.9563
 gggagacgtctgaaagaccaacgagactttggagaccagagacgcgcctggggggacctg       c.-61

 .         .         .         .         .         .                g.9623
 gggcttggggcgtgcgagatttcccttgcattcgctgggagctcgcgcagggatcgtccc       c.-1

          .         .         .         .         .         .       g.9683
 ATGGCCGGGGCTCGGAGCCGCGACCCTTGGGGGGCCTCCGGGATTTGCTACCTTTTTGGC       c.60
 M  A  G  A  R  S  R  D  P  W  G  A  S  G  I  C  Y  L  F  G         p.20

          .         .         .         .         .         .       g.9743
 TCCCTGCTCGTCGAACTGCTCTTCTCACGGGCTGTCGCCTTCAATCTGGACGTGATGGGT       c.120
 S  L  L  V  E  L  L  F  S  R  A  V  A  F  N  L  D  V  M  G         p.40

          .         .         .         .         .         .       g.9803
 GCCTTGCGCAAGGAGGGCGAGCCAGGCAGCCTCTTCGGCTTCTCTGTGGCCCTGCACCGG       c.180
 A  L  R  K  E  G  E  P  G  S  L  F  G  F  S  V  A  L  H  R         p.60

          .         .       | 02 .         .         .         .    g.14161
 CAGTTGCAGCCCCGACCCCAGAGCTG | GCTGCTGGTGGGTGCTCCCCAGGCCCTGGCTCTT    c.240
 Q  L  Q  P  R  P  Q  S  W  |  L  L  V  G  A  P  Q  A  L  A  L      p.80

          .         .         .         .         .         .       g.14221
 CCTGGGCAGCAGGCGAATCGCACTGGAGGCCTCTTCGCTTGCCCGTTGAGCCTGGAGGAG       c.300
 P  G  Q  Q  A  N  R  T  G  G  L  F  A  C  P  L  S  L  E  E         p.100

          .         .         .     | 03   .         .         .    g.14380
 ACTGACTGCTACAGAGTGGACATCGACCAGGGAG | CTGATATGCAAAAGGAAAGCAAGGAG    c.360
 T  D  C  Y  R  V  D  I  D  Q  G  A |   D  M  Q  K  E  S  K  E      p.120

          .         .         .         .         .     | 04   .    g.16157
 AACCAGTGGTTGGGAGTCAGTGTTCGGAGCCAGGGGCCTGGGGGCAAGATTGTT | ACCTGT    c.420
 N  Q  W  L  G  V  S  V  R  S  Q  G  P  G  G  K  I  V   | T  C      p.140

          .         .         .         .         .         .       g.16217
 GCACACCGATATGAGGCAAGGCAGCGAGTGGACCAGATCCTGGAGACGCGGGATATGATT       c.480
 A  H  R  Y  E  A  R  Q  R  V  D  Q  I  L  E  T  R  D  M  I         p.160

          .         .         .         .         .         .       g.16277
 GGTCGCTGCTTTGTGCTCAGCCAGGACCTGGCCATCCGGGATGAGTTGGATGGTGGGGAA       c.540
 G  R  C  F  V  L  S  Q  D  L  A  I  R  D  E  L  D  G  G  E         p.180

          .         .         .         .         .         .       g.16337
 TGGAAGTTCTGTGAGGGACGCCCCCAAGGCCATGAACAATTTGGGTTCTGCCAGCAGGGC       c.600
 W  K  F  C  E  G  R  P  Q  G  H  E  Q  F  G  F  C  Q  Q  G         p.200

          .         .         .         .         .         .       g.16397
 ACAGCTGCCGCCTTCTCCCCTGATAGCCACTACCTCCTCTTTGGGGCCCCAGGAACCTAT       c.660
 T  A  A  A  F  S  P  D  S  H  Y  L  L  F  G  A  P  G  T  Y         p.220

          . | 05       .         .         .         .         .    g.17366
 AATTGGAAGG | GGTTGCTTTTTGTGACCAACATTGATAGCTCAGACCCCGACCAGCTGGTG    c.720
 N  W  K  G |   L  L  F  V  T  N  I  D  S  S  D  P  D  Q  L  V      p.240

          .         .         .         .         .         .       g.17426
 TATAAAACTTTGGACCCTGCTGACCGGCTCCCAGGACCAGCCGGAGACTTGGCCCTCAAT       c.780
 Y  K  T  L  D  P  A  D  R  L  P  G  P  A  G  D  L  A  L  N         p.260

          . | 06       .         .         .         .         .    g.18438
 AGCTACTTAG | GCTTCTCTATTGACTCGGGGAAAGGTCTGGTGCGTGCAGAAGAGCTGAGC    c.840
 S  Y  L  G |   F  S  I  D  S  G  K  G  L  V  R  A  E  E  L  S      p.280

          .         .         .         .         .         .       g.18498
 TTTGTGGCTGGAGCCCCCCGCGCCAACCACAAGGGTGCTGTGGTCATCCTGCGCAAGGAC       c.900
 F  V  A  G  A  P  R  A  N  H  K  G  A  V  V  I  L  R  K  D         p.300

          .         .         .         .         .         .       g.18558
 AGCGCCAGTCGCCTGGTGCCCGAGGTTATGCTGTCTGGGGAGCGCCTGACCTCCGGCTTT       c.960
 S  A  S  R  L  V  P  E  V  M  L  S  G  E  R  L  T  S  G  F         p.320

          .         .         .         | 07         .         .    g.18751
 GGCTACTCACTGGCTGTGGCTGACCTCAACAGTGATGG | CTGGCCAGACCTGATAGTGGGT    c.1020
 G  Y  S  L  A  V  A  D  L  N  S  D  G  |  W  P  D  L  I  V  G      p.340

          .         .         .         .         .         .       g.18811
 GCCCCCTACTTCTTTGAGCGCCAAGAAGAGCTGGGGGGTGCTGTGTATGTGTACTTGAAC       c.1080
 A  P  Y  F  F  E  R  Q  E  E  L  G  G  A  V  Y  V  Y  L  N         p.360

          .         .         .         .         .         .       g.18871
 CAGGGGGGTCACTGGGCTGGGATCTCCCCTCTCCGGCTCTGCGGCTCCCCTGACTCCATG       c.1140
 Q  G  G  H  W  A  G  I  S  P  L  R  L  C  G  S  P  D  S  M         p.380

          .         .         .         .         .   | 08     .    g.19287
 TTCGGGATCAGCCTGGCTGTCCTGGGGGACCTCAACCAAGATGGCTTTCCAG | ATATTGCA    c.1200
 F  G  I  S  L  A  V  L  G  D  L  N  Q  D  G  F  P  D |   I  A      p.400

          .         .         .         .         .         .       g.19347
 GTGGGTGCCCCCTTTGATGGTGATGGGAAAGTCTTCATCTACCATGGGAGCAGCCTGGGG       c.1260
 V  G  A  P  F  D  G  D  G  K  V  F  I  Y  H  G  S  S  L  G         p.420

          .         .  | 09      .         .         .         .    g.19522
 GTTGTCGCCAAACCTTCACAG | GTGCTGGAGGGCGAGGCTGTGGGCATCAAGAGCTTCGGC    c.1320
 V  V  A  K  P  S  Q   | V  L  E  G  E  A  V  G  I  K  S  F  G      p.440

          .         .         .         .         .         .       g.19582
 TACTCCCTGTCAGGCAGCTTGGATATGGATGGGAACCAATACCCTGACCTGCTGGTGGGC       c.1380
 Y  S  L  S  G  S  L  D  M  D  G  N  Q  Y  P  D  L  L  V  G         p.460

          .         .          | 10        .         .         .    g.19790
 TCCCTGGCTGACACCGCAGTGCTCTTCAG | GGCCAGACCCATCCTCCATGTCTCCCATGAG    c.1440
 S  L  A  D  T  A  V  L  F  R  |  A  R  P  I  L  H  V  S  H  E      p.480

          .         .         .         .         .         .       g.19850
 GTCTCTATTGCTCCACGAAGCATCGACCTGGAGCAGCCCAACTGTGCTGGCGGCCACTCG       c.1500
 V  S  I  A  P  R  S  I  D  L  E  Q  P  N  C  A  G  G  H  S         p.500

       | 11  .         .         .         .         .         .    g.20083
 GTCTG | TGTGGACCTAAGGGTCTGTTTCAGCTACATTGCAGTCCCCAGCAGCTATAGCCCT    c.1560
 V  C  |  V  D  L  R  V  C  F  S  Y  I  A  V  P  S  S  Y  S  P      p.520

         | 12.         .         .         .         .         .    g.20290
 ACTGTGG | CCCTGGACTATGTGTTAGATGCGGACACAGACCGGAGGCTCCGGGGCCAGGTT    c.1620
 T  V  A |   L  D  Y  V  L  D  A  D  T  D  R  R  L  R  G  Q  V      p.540

          .         .         .         .         .         .       g.20350
 CCCCGTGTGACGTTCCTGAGCCGTAACCTGGAAGAACCCAAGCACCAGGCCTCGGGCACC       c.1680
 P  R  V  T  F  L  S  R  N  L  E  E  P  K  H  Q  A  S  G  T         p.560

          .         .         .         .         .        | 13.    g.20876
 GTGTGGCTGAAGCACCAGCATGACCGAGTCTGTGGAGACGCCATGTTCCAGCTCCAG | GAA    c.1740
 V  W  L  K  H  Q  H  D  R  V  C  G  D  A  M  F  Q  L  Q   | E      p.580

          .         .         .         .         .         .       g.20936
 AATGTCAAAGACAAGCTTCGGGCCATTGTAGTGACCTTGTCCTACAGTCTCCAGACCCCT       c.1800
 N  V  K  D  K  L  R  A  I  V  V  T  L  S  Y  S  L  Q  T  P         p.600

          .         .         .         .         .         .       g.20996
 CGGCTCCGGCGACAGGCTCCTGGCCAGGGGCTGCCTCCAGTGGCCCCCATCCTCAATGCC       c.1860
 R  L  R  R  Q  A  P  G  Q  G  L  P  P  V  A  P  I  L  N  A         p.620

          .         .        | 14.         .         .         .    g.21701
 CACCAGCCCAGCACCCAGCGGGCAGAG | ATCCACTTCCTGAAGCAAGGCTGTGGTGAAGAC    c.1920
 H  Q  P  S  T  Q  R  A  E   | I  H  F  L  K  Q  G  C  G  E  D      p.640

          .         .         .         .         .         .       g.21761
 AAGATCTGCCAGAGCAATCTGCAGCTGGTCCGCGCCCGCTTCTGTACCCGGGTCAGCGAC       c.1980
 K  I  C  Q  S  N  L  Q  L  V  R  A  R  F  C  T  R  V  S  D         p.660

          .         .    | 15    .         .         .         .    g.22372
 ACGGAATTCCAACCTCTGCCCAT | GGATGTGGATGGAACAACAGCCCTGTTTGCACTGAGT    c.2040
 T  E  F  Q  P  L  P  M  |  D  V  D  G  T  T  A  L  F  A  L  S      p.680

          .         .         .         .         .         .       g.22432
 GGGCAGCCAGTCATTGGCCTGGAGCTGATGGTCACCAACCTGCCATCGGACCCAGCCCAG       c.2100
 G  Q  P  V  I  G  L  E  L  M  V  T  N  L  P  S  D  P  A  Q         p.700

          .         .         .         .         .         .       g.22492
 CCCCAGGCTGATGGGGATGATGCCCATGAAGCCCAGCTCCTGGTCATGCTTCCTGACTCA       c.2160
 P  Q  A  D  G  D  D  A  H  E  A  Q  L  L  V  M  L  P  D  S         p.720

          .         .         .       | 16 .         .         .    g.22634
 CTGCACTACTCAGGGGTCCGGGCCCTGGACCCTGCG | GAGAAGCCACTCTGCCTGTCCAAT    c.2220
 L  H  Y  S  G  V  R  A  L  D  P  A   | E  K  P  L  C  L  S  N      p.740

          .         .         .         .         .        | 17.    g.22786
 GAGAATGCCTCCCATGTTGAGTGTGAGCTGGGGAACCCCATGAAGAGAGGTGCCCAG | GTC    c.2280
 E  N  A  S  H  V  E  C  E  L  G  N  P  M  K  R  G  A  Q   | V      p.760

          .         .         .         .         .         .       g.22846
 ACCTTCTACCTCATCCTTAGCACCTCCGGGATCAGCATTGAGACCACGGAACTGGAGGTA       c.2340
 T  F  Y  L  I  L  S  T  S  G  I  S  I  E  T  T  E  L  E  V         p.780

          .        | 18.         .         .         .         .    g.23018
 GAGCTGCTGTTGGCCAC | GATCAGTGAGCAGGAGCTGCATCCAGTCTCTGCACGAGCCCGT    c.2400
 E  L  L  L  A  T  |  I  S  E  Q  E  L  H  P  V  S  A  R  A  R      p.800

          .         .         .   | 19     .         .         .    g.23210
 GTCTTCATTGAGCTGCCACTGTCCATTGCAGG | AATGGCCATTCCCCAGCAACTCTTCTTC    c.2460
 V  F  I  E  L  P  L  S  I  A  G  |  M  A  I  P  Q  Q  L  F  F      p.820

          .         .         .         .         .         .       g.23270
 TCTGGTGTGGTGAGGGGCGAGAGAGCCATGCAGTCTGAGCGGGATGTGGGCAGCAAGGTC       c.2520
 S  G  V  V  R  G  E  R  A  M  Q  S  E  R  D  V  G  S  K  V         p.840

          .      | 20  .         .         .         .         .    g.24033
 AAGTATGAGGTCACG | GTTTCCAACCAAGGCCAGTCGCTCAGAACCCTGGGCTCTGCCTTC    c.2580
 K  Y  E  V  T   | V  S  N  Q  G  Q  S  L  R  T  L  G  S  A  F      p.860

          .         .         .         .         .         .       g.24093
 CTCAACATCATGTGGCCTCATGAGATTGCCAATGGGAAGTGGTTGCTGTACCCAATGCAG       c.2640
 L  N  I  M  W  P  H  E  I  A  N  G  K  W  L  L  Y  P  M  Q         p.880

          .         .         .         .         .         .       g.24153
 GTTGAGCTGGAGGGCGGGCAGGGGCCTGGGCAGAAAGGGCTTTGCTCTCCCAGGCCCAAC       c.2700
 V  E  L  E  G  G  Q  G  P  G  Q  K  G  L  C  S  P  R  P  N         p.900

          .   | 21     .         .         .         .         .    g.24378
 ATCCTCCACCTG | GATGTGGACAGTAGGGATAGGAGGCGGCGGGAGCTGGAGCCACCTGAG    c.2760
 I  L  H  L   | D  V  D  S  R  D  R  R  R  R  E  L  E  P  P  E      p.920

          .         .         .         .         .         .       g.24438
 CAGCAGGAGCCTGGTGAGCGGCAGGAGCCCAGCATGTCCTGGTGGCCAGTGTCCTCTGCT       c.2820
 Q  Q  E  P  G  E  R  Q  E  P  S  M  S  W  W  P  V  S  S  A         p.940

          .         .     | 22   .         .         .         .    g.28384
 GAGAAGAAGAAAAACATCACCCTG | GACTGCGCCCGGGGCACGGCCAACTGTGTGGTGTTC    c.2880
 E  K  K  K  N  I  T  L   | D  C  A  R  G  T  A  N  C  V  V  F      p.960

          .         .         .         .         .         .       g.28444
 AGCTGCCCACTCTACAGCTTTGACCGCGCGGCTGTGCTGCATGTCTGGGGCCGTCTCTGG       c.2940
 S  C  P  L  Y  S  F  D  R  A  A  V  L  H  V  W  G  R  L  W         p.980

          .         | 23         .         .         .         .    g.29047
 AACAGCACCTTTCTGGAG | GAGTACTCAGCTGTGAAGTCCCTGGAAGTGATTGTCCGGGCC    c.3000
 N  S  T  F  L  E   | E  Y  S  A  V  K  S  L  E  V  I  V  R  A      p.1000

          .         .         .         .         .        | 24.    g.29212
 AACATCACAGTGAAGTCCTCCATAAAGAACTTGATGCTCCGAGATGCCTCCACAGTG | ATC    c.3060
 N  I  T  V  K  S  S  I  K  N  L  M  L  R  D  A  S  T  V   | I      p.1020

          .         .         .         .         .         .       g.29272
 CCAGTGATGGTATACTTGGACCCCATGGCTGTGGTGGCAGAAGGAGTGCCCTGGTGGGTC       c.3120
 P  V  M  V  Y  L  D  P  M  A  V  V  A  E  G  V  P  W  W  V         p.1040

          .         .         .         .         .         .       g.29332
 ATCCTCCTGGCTGTACTGGCTGGGCTGCTGGTGCTAGCACTGCTGGTGCTGCTCCTGTGG       c.3180
 I  L  L  A  V  L  A  G  L  L  V  L  A  L  L  V  L  L  L  W         p.1060

     | 25    .         .         .         .         .         .    g.32074
 AAG | ATGGGATTCTTCAAACGGGCGAAGCACCCCGAGGCCACCGTGCCCCAGTACCATGCG    c.3240
 K   | M  G  F  F  K  R  A  K  H  P  E  A  T  V  P  Q  Y  H  A      p.1080

          .         .         .         .         .         .       g.32134
 GTGAAGATTCCTCGGGAAGACCGACAGCAGTTCAAGGAGGAGAAGACGGGCACCATCCTG       c.3300
 V  K  I  P  R  E  D  R  Q  Q  F  K  E  E  K  T  G  T  I  L         p.1100

          .         .         .         .         .         .       g.32194
 AGGAACAACTGGGGCAGCCCCCGGCGGGAGGGCCCGGATGCACACCCCATCCTGGCTGCT       c.3360
 R  N  N  W  G  S  P  R  R  E  G  P  D  A  H  P  I  L  A  A         p.1120

          .         .         .         .         .                 g.32248
 GACGGGCATCCCGAGCTGGGCCCCGATGGGCATCCAGGGCCAGGCACCGCCTAG             c.3414
 D  G  H  P  E  L  G  P  D  G  H  P  G  P  G  T  A  X               p.1137

          .         .         .         .         .         .       g.32308
 gttcccatgtcccagcctggcctgtggctgccctccatcccttccccagagatggctcct       c.*60

          .         .         .         .         .         .       g.32368
 tgggatgaagagggtagagtgggctgctggtgtcgcatcaagatttggcaggatcggctt       c.*120

          .         .         .         .         .         .       g.32428
 cctcaggggcacagacctctcccacccacaagaactcctcccacccaacttccccttaga       c.*180

          .         .         .         .         .         .       g.32488
 gtgctgtgagatgagagtgggtaaatcagggacagggccatggggtagggtgagaagggc       c.*240

          .         .         .         .         .         .       g.32548
 aggggtgtcctgatgcaaaggtggggagaagggatcctaatcccttcctctcccattcac       c.*300

          .         .         .         .         .         .       g.32608
 cctgtgtaacaggaccccaaggacctgcctccccggaagtgccttaacctagagggtcgg       c.*360

          .         .         .         .         .         .       g.32668
 ggaggaggttgtgtcactgactcaggctgctccttctctagtttcccctctcatctgacc       c.*420

          .         .         .         .         .         .       g.32728
 ttagtttgctgccatcagtctagtggtttcgtggtttcgtctatttattaaaaaatattt       c.*480

          .                                                         g.32738
 gagaacaaaa                                                         c.*490

 (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 Integrin, alpha 7 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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