calmodulin binding transcription activator 1 (CAMTA1) - coding DNA reference sequence

(used for variant description)

(last modified November 27, 2019)


This file was created to facilitate the description of sequence variants on transcript NM_015215.2 in the CAMTA1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_053148.1, covering CAMTA1 transcript NM_015215.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5027
                                  gacgctcctcccggagagtagtgagac       c.-181

 .         .         .         .         .         .                g.5087
 ccctggtgcggggcgattggcggcgggagcgatgagtggcagccgcacggcccaacggga       c.-121

 .         .         .         .         .         .                g.5147
 gctgtgcgtgggccgcggggcggggccagggcgggtgcgcggcggcggcggggtggctgg       c.-61

 .         .         .         .         .         .                g.5207
 gccggcggcggcggcggtacgaggcgcgcgctcggggtcccggtcgcgaggaggaggagg       c.-1

          .         .         .         .      | 02  .         .    g.39872
 ATGTGGCGCGCGGAGGGGAAATGGCTGCCGAAAACAAGCCGGAAG | AGCGTTTCCCAAAGT    c.60
 M  W  R  A  E  G  K  W  L  P  K  T  S  R  K   | S  V  S  Q  S      p.20

          .         .         .         .         .      | 03  .    g.44773
 GTATTCTGCGGAACTAGCACCTACTGTGTTCTCAACACCGTGCCACCTATAGAAG | ATGAT    c.120
 V  F  C  G  T  S  T  Y  C  V  L  N  T  V  P  P  I  E  D |   D      p.40

          .         .         .         .         .         .       g.44833
 CATGGGAACAGCAATAGTAGTCATGTAAAAATCTTTTTACCGAAAAAGCTGCTTGAATGT       c.180
 H  G  N  S  N  S  S  H  V  K  I  F  L  P  K  K  L  L  E  C         p.60

          .         .         .         .         .     | 04   .    g.310986
 CTGCCGAAATGTTCAAGTTTACCAAAAGAGAGGCACCGCTGGAACACTAATGAG | GAAATT    c.240
 L  P  K  C  S  S  L  P  K  E  R  H  R  W  N  T  N  E   | E  I      p.80

          .         .         .         .         .         .       g.311046
 GCAGCTTATTTAATAACATTTGAGAAACACGAAGAATGGCTAACCACCTCCCCTAAGACA       c.300
 A  A  Y  L  I  T  F  E  K  H  E  E  W  L  T  T  S  P  K  T         p.100

    | 05     .         .         .         .         .         .    g.469225
 AG | ACCACAGAATGGCTCAATGATACTCTACAACAGGAAGAAAGTGAAATACAGGAAAGAT    c.360
 R  |  P  Q  N  G  S  M  I  L  Y  N  R  K  K  V  K  Y  R  K  D      p.120

          .         .         .         .         .         .       g.469285
 GGGTATTGCTGGAAAAAGAGGAAAGATGGGAAAACGACCAGAGAGGACCACATGAAACTC       c.420
 G  Y  C  W  K  K  R  K  D  G  K  T  T  R  E  D  H  M  K  L         p.140

          .         | 06         .         .         .         .    g.687548
 AAGGTCCAGGGAGTGGAG | TGCTTGTACGGCTGCTATGTCCATTCCTCCATCATCCCCACC    c.480
 K  V  Q  G  V  E   | C  L  Y  G  C  Y  V  H  S  S  I  I  P  T      p.160

          .         .         . | 07       .         .         .    g.860106
 TTCCACCGGAGGTGCTACTGGCTCCTTCAG | AACCCCGACATCGTCCTGGTGCACTACCTG    c.540
 F  H  R  R  C  Y  W  L  L  Q   | N  P  D  I  V  L  V  H  Y  L      p.180

          .         .         .         .         .         .       g.860166
 AACGTGCCGGCCATCGAGGACTGCGGCAAGCCTTGCGGCCCCATCCTCTGCTCCATCAAC       c.600
 N  V  P  A  I  E  D  C  G  K  P  C  G  P  I  L  C  S  I  N         p.200

          .         .         .         .         .         .       g.860226
 ACCGACAAGAAGGAGTGGGCGAAATGGACGAAAGAAGAGCTCATCGGGCAGCTGAAACCC       c.660
 T  D  K  K  E  W  A  K  W  T  K  E  E  L  I  G  Q  L  K  P         p.220

      | 08   .         .         .         .         .         .    g.881458
 ATGT | TCCATGGCATCAAGTGGACCTGCAGCAATGGGAACAGCAGCTCAGGCTTCTCGGTG    c.720
 M  F |   H  G  I  K  W  T  C  S  N  G  N  S  S  S  G  F  S  V      p.240

          .         .         .         .         .         .       g.881518
 GAACAGCTGGTGCAGCAGATCCTCGACAGCCACCAGACCAAGCCCCAGCCGCGGACCCAC       c.780
 E  Q  L  V  Q  Q  I  L  D  S  H  Q  T  K  P  Q  P  R  T  H         p.260

          .         .      | 09  .         .         .         .    g.883064
 AACTGCCTCTGCACCGGCAGCCTGG | GAGCTGGCGGCAGCGTGCATCACAAGTGTAACAGC    c.840
 N  C  L  C  T  G  S  L  G |   A  G  G  S  V  H  H  K  C  N  S      p.280

          .         .         .         .         .         .       g.883124
 GCCAAACACCGCATCATCTCGCCCAAGGTGGAGCCACGGACAGGGGGGTACGGGAGCCAC       c.900
 A  K  H  R  I  I  S  P  K  V  E  P  R  T  G  G  Y  G  S  H         p.300

          .         .         .         .         .         .       g.883184
 TCGGAGGTGCAGCACAATGACGTGTCGGAGGGCAAGCACGAGCACAGCCACAGCAAGGGC       c.960
 S  E  V  Q  H  N  D  V  S  E  G  K  H  E  H  S  H  S  K  G         p.320

          .         .         .         .         .         .       g.883244
 TCCAGCCGTGAGAAGAGGAACGGCAAGGTGGCCAAGCCCGTGCTCCTGCACCAGAGCAGC       c.1020
 S  S  R  E  K  R  N  G  K  V  A  K  P  V  L  L  H  Q  S  S         p.340

          .         .         .         .         .         .       g.883304
 ACCGAGGTCTCCTCCACCAACCAGGTGGAAGTCCCCGACACCACCCAGAGCTCCCCTGTG       c.1080
 T  E  V  S  S  T  N  Q  V  E  V  P  D  T  T  Q  S  S  P  V         p.360

          .         .         .         .         .         .       g.883364
 TCCATCAGCAGCGGGCTCAACAGCGACCCGGACATGGTGGACAGCCCGGTGGTCACAGGT       c.1140
 S  I  S  S  G  L  N  S  D  P  D  M  V  D  S  P  V  V  T  G         p.380

          .         .         .         .         .         .       g.883424
 GTGTCCGGTATGGCGGTGGCCTCTGTGATGGGGAGCTTGTCCCAGAGCGCCACGGTGTTC       c.1200
 V  S  G  M  A  V  A  S  V  M  G  S  L  S  Q  S  A  T  V  F         p.400

          .         .         .         .         .         .       g.883484
 ATGTCAGAGGTCACCAATGAGGCCGTGTACACCATGTCCCCCACCGCTGGCCCCAACCAC       c.1260
 M  S  E  V  T  N  E  A  V  Y  T  M  S  P  T  A  G  P  N  H         p.420

          .         .         .         .         .         .       g.883544
 CACCTCCTCTCACCTGACGCCTCTCAGGGCCTCGTCCTGGCCGTGAGCTCTGATGGCCAC       c.1320
 H  L  L  S  P  D  A  S  Q  G  L  V  L  A  V  S  S  D  G  H         p.440

          .         .         .         .         .         .       g.883604
 AAGTTCGCCTTTCCCACCACGGGCAGCTCGGAGAGCCTGTCCATGCTGCCCACCAACGTG       c.1380
 K  F  A  F  P  T  T  G  S  S  E  S  L  S  M  L  P  T  N  V         p.460

          .         .         .         .         .         .       g.883664
 TCCGAAGAGCTGGTCCTCTCCACCACCCTCGACGGTGGCCGGAAGATTCCAGAAACCACC       c.1440
 S  E  E  L  V  L  S  T  T  L  D  G  G  R  K  I  P  E  T  T         p.480

          .         .         .         .         .         .       g.883724
 ATGAACTTTGACCCCGACTGTTTCCTTAATAACCCAAAGCAGGGCCAGACGTACGGGGGT       c.1500
 M  N  F  D  P  D  C  F  L  N  N  P  K  Q  G  Q  T  Y  G  G         p.500

          .         .         .         .         .         .       g.883784
 GGAGGCCTGAAAGCCGAGATGGTCAGCTCCAACATCCGGCACTCGCCACCCGGGGAGCGG       c.1560
 G  G  L  K  A  E  M  V  S  S  N  I  R  H  S  P  P  G  E  R         p.520

          .         .         .         .         .         .       g.883844
 AGCTTCAGCTTTACCACCGTCCTCACCAAGGAGATCAAGACCGAGGACACCTCCTTCGAG       c.1620
 S  F  S  F  T  T  V  L  T  K  E  I  K  T  E  D  T  S  F  E         p.540

          .         .         .         .         .         .       g.883904
 CAGCAGATGGCCAAAGAAGCGTACTCCTCCTCCGCGGCGGCTGTGGCAGCCAGCTCCCTC       c.1680
 Q  Q  M  A  K  E  A  Y  S  S  S  A  A  A  V  A  A  S  S  L         p.560

          .         .         .         .         .         .       g.883964
 ACCCTGACCGCCGGCTCCAGCCTCCTGCCGTCGGGCGGCGGCCTGAGTCCCAGCACCACC       c.1740
 T  L  T  A  G  S  S  L  L  P  S  G  G  G  L  S  P  S  T  T         p.580

          .         .         .         .         .         .       g.884024
 CTGGAGCAGATGGACTTCAGCGCCATCGACTCCAACAAGGACTACACGTCCAGCTTCAGC       c.1800
 L  E  Q  M  D  F  S  A  I  D  S  N  K  D  Y  T  S  S  F  S         p.600

          .         .         .         .         .         .       g.884084
 CAGACGGGCCACAGCCCCCACATCCACCAGACCCCCTCCCCGAGCTTCTTCCTGCAGGAC       c.1860
 Q  T  G  H  S  P  H  I  H  Q  T  P  S  P  S  F  F  L  Q  D         p.620

          .         .         .         .         .         .       g.884144
 GCCAGCAAACCCCTCCCCGTCGAGCAGAACACCCACAGCAGCCTGAGTGACTCTGGGGGC       c.1920
 A  S  K  P  L  P  V  E  Q  N  T  H  S  S  L  S  D  S  G  G         p.640

          .         .         .         .         .         .       g.884204
 ACCTTCGTGATGCCCACGGTGAAAACGGAGGCCTCGTCCCAAACCAGCTCCTGCAGCGGT       c.1980
 T  F  V  M  P  T  V  K  T  E  A  S  S  Q  T  S  S  C  S  G         p.660

          .         .         .         .         .         .       g.884264
 CACGTGGAGACGCGGATCGAGTCCACTTCCTCCCTCCACCTCATGCAGTTCCAGGCCAAC       c.2040
 H  V  E  T  R  I  E  S  T  S  S  L  H  L  M  Q  F  Q  A  N         p.680

          .         .         .         .         .         .       g.884324
 TTCCAGGCCATGACGGCAGAAGGGGAGGTCACCATGGAGACCTCGCAGGCGGCGGAAGGG       c.2100
 F  Q  A  M  T  A  E  G  E  V  T  M  E  T  S  Q  A  A  E  G         p.700

          .         .         .         .         .         .       g.884384
 AGCGAGGTCCTGCTCAAGTCTGGGGAGCTGCAGGCTTGCAGCTCTGAGCACTACCTGCAG       c.2160
 S  E  V  L  L  K  S  G  E  L  Q  A  C  S  S  E  H  Y  L  Q         p.720

          .         .         .         .         .         .       g.884444
 CCGGAGACCAACGGGGTAATCCGAAGCGCCGGCGGCGTCCCCATCCTCCCGGGCAACGTG       c.2220
 P  E  T  N  G  V  I  R  S  A  G  G  V  P  I  L  P  G  N  V         p.740

          .         .         .         .         .         .       g.884504
 GTGCAGGGACTCTACCCCGTGGCCCAGCCCAGCCTCGGCAACGCCTCCAACATGGAGCTC       c.2280
 V  Q  G  L  Y  P  V  A  Q  P  S  L  G  N  A  S  N  M  E  L         p.760

          .         .         .         .         .         .       g.884564
 AGCCTGGACCACTTTGACATCTCCTTCAGCAACCAGTTCTCCGACCTGATCAACGACTTC       c.2340
 S  L  D  H  F  D  I  S  F  S  N  Q  F  S  D  L  I  N  D  F         p.780

          .         .         .         .         .         .       g.884624
 ATCTCCGTGGAGGGGGGCAGCAGCACCATCTATGGGCACCAGCTGGTGTCGGGGGACAGC       c.2400
 I  S  V  E  G  G  S  S  T  I  Y  G  H  Q  L  V  S  G  D  S         p.800

          .         .         .         .         .         .       g.884684
 ACGGCGCTCTCACAGTCAGAGGACGGGGCGCGGGCCCCCTTCACCCAGGCAGAGATGTGC       c.2460
 T  A  L  S  Q  S  E  D  G  A  R  A  P  F  T  Q  A  E  M  C         p.820

          .         .         .         .         .         .       g.884744
 CTCCCCTGCTGTAGCCCCCAGCAGGGTAGCCTGCAGCTGAGCAGCTCGGAGGGCGGGGCC       c.2520
 L  P  C  C  S  P  Q  Q  G  S  L  Q  L  S  S  S  E  G  G  A         p.840

          .         .         .         .         .         .       g.884804
 AGCACCATGGCCTACATGCACGTCGCCGAGGTGGTCTCGGCCGCCTCGGCCCAGGGCACC       c.2580
 S  T  M  A  Y  M  H  V  A  E  V  V  S  A  A  S  A  Q  G  T         p.860

          .         .         .         .         .         .       g.884864
 CTAGGCATGCTGCAGCAGAGCGGACGGGTGTTCATGGTGACCGACTACTCCCCAGAGTGG       c.2640
 L  G  M  L  Q  Q  S  G  R  V  F  M  V  T  D  Y  S  P  E  W         p.880

          .   | 10     .         .         .         .         .    g.890635
 TCTTACCCAGAG | GGAGGAGTGAAGGTCCTCATCACAGGCCCGTGGCAAGAAGCCAGCAAT    c.2700
 S  Y  P  E   | G  G  V  K  V  L  I  T  G  P  W  Q  E  A  S  N      p.900

          .         .         .         .         .         .       g.890695
 AACTACAGCTGCCTGTTTGACCAGATCTCAGTGCCTGCATCCCTGATTCAGCCTGGGGTG       c.2760
 N  Y  S  C  L  F  D  Q  I  S  V  P  A  S  L  I  Q  P  G  V         p.920

          .          | 11        .         .         .         .    g.897316
 CTGCGCTGCTACTGCCCAG | CCCATGACACTGGTCTTGTGACCCTACAAGTTGCCTTCAAC    c.2820
 L  R  C  Y  C  P  A |   H  D  T  G  L  V  T  L  Q  V  A  F  N      p.940

          .         .         .         .         .         .       g.897376
 AACCAGATCATCTCCAACTCGGTGGTGTTTGAGTACAAAGCCCGGGCTCTGCCCACGCTC       c.2880
 N  Q  I  I  S  N  S  V  V  F  E  Y  K  A  R  A  L  P  T  L         p.960

          .         .         .     | 12   .         .         .    g.952150
 CCTTCCTCCCAGCACGACTGGCTGTCGTTGGACG | ATAACCAGTTCAGGATGTCCATCCTG    c.2940
 P  S  S  Q  H  D  W  L  S  L  D  D |   N  Q  F  R  M  S  I  L      p.980

          .         .         .         .         .         .       g.952210
 GAACGACTGGAGCAGATGGAGAGGAGGATGGCCGAGATGACGGGGTCCCAGCAGCACAAA       c.3000
 E  R  L  E  Q  M  E  R  R  M  A  E  M  T  G  S  Q  Q  H  K         p.1000

          .         .         .         .         .         .       g.952270
 CAGGCGAGCGGAGGCGGCAGCAGTGGAGGCGGCAGCGGGAGCGGGAATGGAGGGAGCCAG       c.3060
 Q  A  S  G  G  G  S  S  G  G  G  S  G  S  G  N  G  G  S  Q         p.1020

        | 13 .         .         .         .         .         .    g.956074
 GCACAG | TGTGCTTCTGGGACTGGGGCCTTGGGGAGCTGCTTTGAGAGCCGTGTGGTCGTG    c.3120
 A  Q   | C  A  S  G  T  G  A  L  G  S  C  F  E  S  R  V  V  V      p.1040

          .         .         .         .         .         .       g.956134
 GTATGCGAGAAGATGATGAGCCGAGCCTGCTGGGCGAAGTCCAAGCACTTGATCCACTCA       c.3180
 V  C  E  K  M  M  S  R  A  C  W  A  K  S  K  H  L  I  H  S         p.1060

          .         .         .         .         .         .       g.956194
 AAGACTTTCCGCGGAATGACCCTACTCCACCTGGCCGCTGCCCAGGGCTATGCCACCCTA       c.3240
 K  T  F  R  G  M  T  L  L  H  L  A  A  A  Q  G  Y  A  T  L         p.1080

          .         .    | 14    .         .         .         .    g.956644
 ATCCAGACCCTCATCAAATGGCG | TACAAAGCACGCGGATAGCATTGACCTGGAACTGGAA    c.3300
 I  Q  T  L  I  K  W  R  |  T  K  H  A  D  S  I  D  L  E  L  E      p.1100

          .         .         .         .   | 15     .         .    g.956949
 GTTGACCCCTTGAATGTGGACCACTTCTCCTGTACTCCTCTG | ATGTGGGCGTGTGCCCTA    c.3360
 V  D  P  L  N  V  D  H  F  S  C  T  P  L   | M  W  A  C  A  L      p.1120

          .         .         .         .         .         .       g.957009
 GGGCACTTGGAAGCTGCCGTCGTGCTGTACAAGTGGGACCGTCGGGCCATCTCGATTCCC       c.3420
 G  H  L  E  A  A  V  V  L  Y  K  W  D  R  R  A  I  S  I  P         p.1140

          .         .         .         .         .         .       g.957069
 GACTCTCTAGGAAGGCTGCCTTTGGGAATTGCCAGGTCACGGGGTCATGTGAAATTAGCA       c.3480
 D  S  L  G  R  L  P  L  G  I  A  R  S  R  G  H  V  K  L  A         p.1160

          .         .         .         .         .         .       g.957129
 GAGTGTCTGGAGCACCTGCAGAGAGATGAGCAGGCTCAGCTGGGACAGAACCCCAGAATC       c.3540
 E  C  L  E  H  L  Q  R  D  E  Q  A  Q  L  G  Q  N  P  R  I         p.1180

          .         .         .         .         .         .       g.957189
 CACTGTCCTGCAAGCGAAGAGCCCAGCACAGAGAGCTGGATGGCCCAGTGGCACAGCGAA       c.3600
 H  C  P  A  S  E  E  P  S  T  E  S  W  M  A  Q  W  H  S  E         p.1200

          .         .         .         .         .         | 16    g.957637
 GCCATCAGCTCTCCAGAAATACCCAAGGGAGTCACTGTTATTGCAAGCACCAACCCAG | AG    c.3660
 A  I  S  S  P  E  I  P  K  G  V  T  V  I  A  S  T  N  P  E |       p.1220

          .         .         .         .         .         .       g.957697
 CTGAGAAGACCTCGTTCTGAACCCTCTAATTACTACAGCAGTGAGAGCCACAAAGATTAT       c.3720
 L  R  R  P  R  S  E  P  S  N  Y  Y  S  S  E  S  H  K  D  Y         p.1240

          .         .         .         .         .         .       g.957757
 CCGGCTCCCAAAAAGCATAAATTGAACCCTGAGTACTTCCAGACAAGGCAGGAGAAGCTG       c.3780
 P  A  P  K  K  H  K  L  N  P  E  Y  F  Q  T  R  Q  E  K  L         p.1260

          .         .         .         .         .         .       g.957817
 CTTCCCACTGCACTGAGTCTGGAAGAGCCAAATATCAGGAAGCAAAGCCCTAGTTCTAAG       c.3840
 L  P  T  A  L  S  L  E  E  P  N  I  R  K  Q  S  P  S  S  K         p.1280

          .         .         .         .         .         .       g.957877
 CAGTCTGTCCCCGAGACACTCAGCCCCAGTGAAGGAGTGAGGGACTTCAGCCGGGAACTC       c.3900
 Q  S  V  P  E  T  L  S  P  S  E  G  V  R  D  F  S  R  E  L         p.1300

          .         .         .         .         .         .       g.957937
 TCCCCTCCCACTCCAGAGACTGCAGCATTTCAAGCCTCTGGATCTCAGCCTGTAGGAAAG       c.3960
 S  P  P  T  P  E  T  A  A  F  Q  A  S  G  S  Q  P  V  G  K         p.1320

          .         .         .         .         .         .       g.957997
 TGGAATTCCAAAGATCTTTACATTGGTGTGTCTACAGTACAGGTGACTGGAAATCCGAAG       c.4020
 W  N  S  K  D  L  Y  I  G  V  S  T  V  Q  V  T  G  N  P  K         p.1340

          .         .         .         .         .         .       g.958057
 GGGACCAGTGTAGGAAAGGAGGCAGCACCTTCACAGGTGCGTCCACGGGAACCAATGAGT       c.4080
 G  T  S  V  G  K  E  A  A  P  S  Q  V  R  P  R  E  P  M  S         p.1360

          .         .         .         .         .         .       g.958117
 GTCCTGATGATGGCTAACAGAGAGGTGGTGAATACAGAGCTGGGGTCCTACCGTGATAGT       c.4140
 V  L  M  M  A  N  R  E  V  V  N  T  E  L  G  S  Y  R  D  S         p.1380

          .         .         .         .   | 17     .         .    g.964529
 GCAGAAAATGAAGAATGCGGCCAGCCCATGGATGACATACAG | GTGAACATGATGACCTTG    c.4200
 A  E  N  E  E  C  G  Q  P  M  D  D  I  Q   | V  N  M  M  T  L      p.1400

          .         .         .         .         .         .       g.964589
 GCAGAACACATTATTGAAGCCACACCTGACCGAATCAAGCAGGAGAATTTTGTGCCCATG       c.4260
 A  E  H  I  I  E  A  T  P  D  R  I  K  Q  E  N  F  V  P  M         p.1420

          .         .         .         .         .         .       g.964649
 GAGTCCTCAGGATTGGAAAGAACAGACCCTGCCACCATTAGCAGTACAATGAGCTGGCTG       c.4320
 E  S  S  G  L  E  R  T  D  P  A  T  I  S  S  T  M  S  W  L         p.1440

          .         .         .         .         . | 18       .    g.965531
 GCCAGTTATCTAGCGGATGCTGACTGCCTTCCCAGTGCTGCCCAGATCCG | AAGTGCATAT    c.4380
 A  S  Y  L  A  D  A  D  C  L  P  S  A  A  Q  I  R  |  S  A  Y      p.1460

          .         .         .         .         .         .       g.965591
 AACGAGCCTCTAACCCCTTCTTCTAATACCAGCTTGAGCCCTGTTGGCTCTCCCGTCAGT       c.4440
 N  E  P  L  T  P  S  S  N  T  S  L  S  P  V  G  S  P  V  S         p.1480

          .         .         .         .         .         .       g.965651
 GAAATCGCTTTCGAGAAACCTAACCTTCCCTCCGCCGCGGATTGGTCAGAATTCCTGAGT       c.4500
 E  I  A  F  E  K  P  N  L  P  S  A  A  D  W  S  E  F  L  S         p.1500

          .         .         .         .         .         .       g.965711
 GCATCTACCAGTGAGAAGGTAGAGAATGAGTTTGCTCAGCTCACTCTGTCTGATCATGAA       c.4560
 A  S  T  S  E  K  V  E  N  E  F  A  Q  L  T  L  S  D  H  E         p.1520

          .         .         .         .         .        | 19.    g.967389
 CAGAGAGAACTCTATGAGGCTGCCAGGCTTGTCCAGACAGCTTTCCGGAAATACAAG | GGC    c.4620
 Q  R  E  L  Y  E  A  A  R  L  V  Q  T  A  F  R  K  Y  K   | G      p.1540

          .         .         .         .         .         .       g.967449
 CGACCCTTGCGGGAACAGCAAGAAGTAGCTGCTGCTGTTATTCAGCGTTGTTACAGAAAA       c.4680
 R  P  L  R  E  Q  Q  E  V  A  A  A  V  I  Q  R  C  Y  R  K         p.1560

           | 20        .         .         .         .         .    g.970926
 TATAAACAG | TACGCACTTTATAAAAAGATGACACAGGCTGCCATCCTTATCCAGAGCAAA    c.4740
 Y  K  Q   | Y  A  L  Y  K  K  M  T  Q  A  A  I  L  I  Q  S  K      p.1580

          .         .         .         .         .         .       g.970986
 TTCCGAAGTTACTATGAACAAAAAAAATTCCAGCAGAGCCGACGGGCTGCTGTGCTCATC       c.4800
 F  R  S  Y  Y  E  Q  K  K  F  Q  Q  S  R  R  A  A  V  L  I         p.1600

          .         .         .         .         .         .       g.971046
 CAAAAGTACTACCGAAGTTATAAGAAATGTGGCAAAAGACGGCAGGCTCGCCGGACGGCT       c.4860
 Q  K  Y  Y  R  S  Y  K  K  C  G  K  R  R  Q  A  R  R  T  A         p.1620

          .         .    | 21    .         .         .         .    g.972172
 GTGATTGTACAACAGAAACTCAG | GAGCAGTTTGCTAACCAAAAAGCAGGATCAAGCTGCT    c.4920
 V  I  V  Q  Q  K  L  R  |  S  S  L  L  T  K  K  Q  D  Q  A  A      p.1640

          .         .         .         | 22         .         .    g.975336
 CGAAAAATAATGAGGTTTCTTCGCCGCTGTCGCCACAG | CCCCCTGGTGGACCATAGGCTG    c.4980
 R  K  I  M  R  F  L  R  R  C  R  H  S  |  P  L  V  D  H  R  L      p.1660

           | 23        .         .         .                        g.986186
 TACAAAAGG | AGTGAAAGAATTGAAAAAGGCCAAGGAACTTGA                      c.5022
 Y  K  R   | S  E  R  I  E  K  G  Q  G  T  X                        p.1673

          .         .         .         .         .         .       g.986246
 agacatacagcagcatcccttagcaatgtgacattgcttttcagactgttttcatttctg       c.*60

          .         .         .         .         .         .       g.986306
 tttttagcagagacatgcaacaacaacacacacgcacacacgcacacacacacacgtaca       c.*120

          .         .         .         .         .         .       g.986366
 cacacatacaaaatccctctgcagttttggggagatcagctgcaggattttaacaggaat       c.*180

          .         .         .         .         .         .       g.986426
 gttttggtcattgcatttgcactttcatggacaacttttaatttgatcagcaagacatct       c.*240

          .         .         .         .         .         .       g.986486
 tggaactcaatcttctgttggatcacgggaaatcaagacacccaggaggaattgaaagag       c.*300

          .         .         .         .         .         .       g.986546
 gcttcctcttctcaggaagaagccatttccttctcatatagggctgtattcaaacatcgt       c.*360

          .         .         .         .         .         .       g.986606
 gtggaactgtacaaatatttataccaaaaatatagataagaaaaggtggggctatactag       c.*420

          .         .         .         .         .         .       g.986666
 caacaaaaaaagaatgctgttcctgcacctgccggttatttccaagaagctgaatctttg       c.*480

          .         .         .         .         .         .       g.986726
 ggactgattctcagtggagggcttagatcatacaaaaatctttattgggtccgtgtgttc       c.*540

          .         .         .         .         .         .       g.986786
 tcatttccttcactgtttatttttgtttgtttgtttgtttgttttaatctctacagcaca       c.*600

          .         .         .         .         .         .       g.986846
 tttaatgcaacttttgaaatctgcaggtttttaatgtcttgtggaaatttgcagaggggc       c.*660

          .         .         .         .         .         .       g.986906
 aggtgtgtggtaaacgggtaatgcatgggaaataatgagaagcagctcacagagtttaaa       c.*720

          .         .         .         .         .         .       g.986966
 ctattttcttgtccccaccaccttccaagaacctgcgagggtagtaatcatcttgtcccc       c.*780

          .         .         .         .         .         .       g.987026
 tttttcatgttcagcactttaatttttttgccttactttcatgtgcaatgagaattactt       c.*840

          .         .         .         .         .         .       g.987086
 aagaattggtaacgcatgtagccttttttagtaaccttggaagctgtagtaattctaagg       c.*900

          .         .         .         .         .         .       g.987146
 aatcatgaaccttgcctggacatttgccacctaaacgatcagtgtggtgctgcgttctgg       c.*960

          .         .         .         .         .         .       g.987206
 ccagtaaattccatgtttttggctatatctcatccaaactgagcagtttctgtgtatata       c.*1020

          .         .         .         .         .         .       g.987266
 tagaaggtagaaatgaaaagtgagaaaatatttgaaagggattatattaattgctaaata       c.*1080

          .         .         .         .         .         .       g.987326
 ttttattcacaaaggtcaataacatggcaagataaaattatttgtatagttttgtctgaa       c.*1140

          .         .         .         .         .         .       g.987386
 tgagcgagaaaaatgtggatgtactgtttgtatatattgtatatattaaaacagagatat       c.*1200

          .         .         .         .         .         .       g.987446
 gtgcatgaaatcaagaaaaaagaaatgaacaaaagcaaagcattagtggctatggtctgt       c.*1260

          .         .         .         .         .         .       g.987506
 aaaatgaaacaaaaaaactttatttcactataagagtactttattttaaatgttctttag       c.*1320

          .         .         .         .         .         .       g.987566
 gagaacattttgctaaagcatgactaaactgcaaaaaaaaaaaaagagctactgtattta       c.*1380

          .         .         .         .         .         .       g.987626
 gacttaggaaaaaaggcagagtaacattacttaaaaaaaaaaggatatgtttacatttaa       c.*1440

          .         .         .         .         .         .       g.987686
 ttttggctaccaggagtttagtttattttatttaaaatttttttgccaatggtgccaagt       c.*1500

          .         .         .         .         .         .       g.987746
 aatgtgaatgctaatactgcttaagaaaattaagttacttttgcaaaacagataatcata       c.*1560

          .         .         .         .         .         .       g.987806
 agatgaatcagtatgtagcttaacaccatccactcactccaacaaagaacacttagaatg       c.*1620

          .         .         .         .         .         .       g.987866
 ataaaaaaaaaaaaaaaaaacctgacaaaagaaatagtatgaaaagtagaaaaatgtcac       c.*1680

          .         .         .         .         .         .       g.987926
 gtttccatatctcctgctggaaatcagaaaatataataaaattgcacaaaaaaaaaaatg       c.*1740

          .         .         .         .         .         .       g.987986
 aaaaagatgcagactggtcttttagagacggcatggtatattactatttccacataatga       c.*1800

          .         .         .         .         .         .       g.988046
 ggagccaaagaaatctgatgtttttaacaattaaactgctaatgttaaattgagagaata       c.*1860

          .         .         .         .         .         .       g.988106
 aagttcgtatttgctgatgccagtttaaaattcccaggttacgtctgaggatcagttggt       c.*1920

          .         .         .         .         .         .       g.988166
 gtaaagctgagatgttttttcttggttctggctgccaactgtgagttaaaactcaaggct       c.*1980

          .         .         .         .         .         .       g.988226
 tgttgtgaagcctaaaaatattcacaaataagcttttaaactggtgtctttggaaggaag       c.*2040

          .         .         .         .         .         .       g.988286
 gtagatacaaaaagattgtggtaaaaactggggtcagtgctcttggtgccttttctataa       c.*2100

          .         .         .         .         .         .       g.988346
 ttgtacttgttttttaattacttcctttcactgccaacctcgaattactgtacagtatat       c.*2160

          .         .         .         .         .         .       g.988406
 gtctttctgcttgtgatcagctttgacaacagtgacagccccacaactagtagccacctg       c.*2220

          .         .         .         .         .         .       g.988466
 tacatttgtaaactgacctgactccattttgtttttaaatgtgtgggttatgttgcagct       c.*2280

          .         .         .         .         .         .       g.988526
 gttgcagtcccccagatacctattattttacacaatttgacctataggaggacactgagt       c.*2340

          .         .         .         .         .         .       g.988586
 aatttacaaacacaactgcattcataaatgggaatagaacgtgaaagccagctctttcag       c.*2400

          .         .         .         .         .         .       g.988646
 aatatcctctattaatactgaatttagatatctttattccatttattatggtacaaataa       c.*2460

          .         .         .         .         .         .       g.988706
 ctgatgttttaaccagagtaatgacctcagtggatttgctttaaccctcacatttttttt       c.*2520

          .         .         .         .         .         .       g.988766
 ttaatgtttcacatgttacattattagctgaatacgttagaaaatgacagatggtagaga       c.*2580

          .         .         .         .         .         .       g.988826
 cttccatagaattaagagggttctcatggaggggataggaagtaggtttaaagcctacca       c.*2640

          .         .         .         .         .         .       g.988886
 gtgtaacctaccagtacaactgtgaatcctaggcaaggcaaaaatgcacttccactgaaa       c.*2700

          .         .         .         .         .         .       g.988946
 cgaagcatttctgaccgctttttcttggttatgaatcttaatttcgaatataagatgata       c.*2760

          .         .         .         .         .         .       g.989006
 ggtaagcgcagctttcttggataatctgaattcccaagtgccaggagtaggatttcatta       c.*2820

          .         .         .         .         .         .       g.989066
 taaaattaatagctaatcttattctatctcctgaagatttaattgctattgttacccatt       c.*2880

          .         .         .         .         .         .       g.989126
 cgaaatcagctgtactgtgtgaacgaaataaagacaataatacgaacccctctctggctg       c.*2940

          .         .         .         .         .         .       g.989186
 cacggtcgcttatggcagttccacacagtagttggcgcccaatggggggtccctgagact       c.*3000

          .         .         .         .         .         .       g.989246
 tgcatgtaaaactagtctagatgtcttctttttttgtaagttttatttttgtaattgtgc       c.*3060

          .         .         .         .         .         .       g.989306
 atgtaaagcatcattgaatcaatggatctgttgaagaactcagctgctggaaaccatgca       c.*3120

          .         .         .         .         .         .       g.989366
 aaatgttttgaattgcccttaaaatatggaaaatgttttctgaatgctttatattctttc       c.*3180

          .         .         .                                     g.989401
 tgctgtaaattaaaaatgaagaaaatttccccata                                c.*3215

 (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 Calmodulin binding transcription activator 1 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 variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

Powered by LOVD v.3.0 Build 22
©2004-2019 Leiden University Medical Center