Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) - coding DNA reference sequence

(used for mutation description)

(last modified January 15, 2013)


This file was created to facilitate the description of sequence variants in the SMCHD1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_031972.1, covering SMCHD1 transcript NM_015295.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5009
                                                    gaatcggtt       c.-181

 .         .         .         .         .         .                g.5069
 cccgggtgatcctcgcgcctgccgctgctcggccgccgccgctgacgaggagctgcagcg       c.-121

 .         .         .         .         .         .                g.5129
 cgccgggccgaggcctcgagccgccccgggagctggagctgaaggcgccgcgcggagcgc       c.-61

 .         .         .         .         .         .                g.5189
 gcacctcagccctgagcccggcggcggcaggcgtcgctgtcttttctccttttccccaat       c.-1

          .         .         .         .         .         .       g.5249
 ATGGCAGCGGCGGACGGCGGCGGGCCTGGTGGGGCCTCTGTGGGGACTGAGGAGGATGGC       c.60
 M  A  A  A  D  G  G  G  P  G  G  A  S  V  G  T  E  E  D  G         p.20

          .         .         .         .         .         .       g.5309
 GGAGGCGTCGGCCACAGGACGGTGTACTTGTTTGATCGGCGCGAAAAGGAGTCCGAGCTC       c.120
 G  G  V  G  H  R  T  V  Y  L  F  D  R  R  E  K  E  S  E  L         p.40

          .         .         .         .         .         .       g.5369
 GGGGACCGGCCTCTGCAGGTCGGGGAGCGCTCGGACTACGCGGGATTTCGCGCGTGTGTG       c.180
 G  D  R  P  L  Q  V  G  E  R  S  D  Y  A  G  F  R  A  C  V         p.60

        | 02 .         .         .         .         .         .    g.15324
 TGTCAG | ACACTTGGCATTTCACCTGAAGAAAAATTTGTTATTACAACAACAAGTAGGAAA    c.240
 C  Q   | T  L  G  I  S  P  E  E  K  F  V  I  T  T  T  S  R  K      p.80

          .         .   | 03     .         .         .         .    g.16021
 GAAATTACCTGTGATAATTTTG | ATGAAACTGTTAAAGATGGAGTCACCTTATACCTGCTA    c.300
 E  I  T  C  D  N  F  D |   E  T  V  K  D  G  V  T  L  Y  L  L      p.100

          .         .         .         .         .         .       g.16081
 CAGTCGGTCAATCAGTTACTACTGACAGCTACGAAAGAACGAATTGACTTCTTACCTCAC       c.360
 Q  S  V  N  Q  L  L  L  T  A  T  K  E  R  I  D  F  L  P  H         p.120

          .         .         .         .         .         .       g.16141
 TATGACACACTGGTTAAAAGTGGCATGTATGAATATTATGCCAGTGAAGGACAAAATCCT       c.420
 Y  D  T  L  V  K  S  G  M  Y  E  Y  Y  A  S  E  G  Q  N  P         p.140

      | 04   .         .         .         .         .         .    g.22450
 TTGC | CATTTGCTCTTGCGGAATTAATTGACAATTCATTGTCTGCTACTTCTCGTAACATT    c.480
 L  P |   F  A  L  A  E  L  I  D  N  S  L  S  A  T  S  R  N  I      p.160

          .         .        | 05.         .         .         .    g.23161
 GGGGTTAGAAGAATACAGATCAAATTG | CTTTTTGATGAAACACAAGGAAAACCTGCTGTT    c.540
 G  V  R  R  I  Q  I  K  L   | L  F  D  E  T  Q  G  K  P  A  V      p.180

          .         .         .         .         .         .       g.23221
 GCAGTGATAGATAATGGAAGAGGAATGACCTCTAAACAGCTTAACAACTGGGCCGTGTAT       c.600
 A  V  I  D  N  G  R  G  M  T  S  K  Q  L  N  N  W  A  V  Y         p.200

          .         .         .         | 06         .         .    g.37528
 AGGTTGTCAAAATTCACAAGGCAAGGTGACTTTGAAAG | TGATCATTCAGGATATGTTCGT    c.660
 R  L  S  K  F  T  R  Q  G  D  F  E  S  |  D  H  S  G  Y  V  R      p.220

          .         .         .         .         .         .       g.37588
 CCAGTACCAGTGCCACGCAGTTTAAATAGTGATATTTCCTATTTTGGTGTTGGGGGCAAG       c.720
 P  V  P  V  P  R  S  L  N  S  D  I  S  Y  F  G  V  G  G  K         p.240

          .         .         .    | 07    .         .         .    g.37767
 CAAGCTGTCTTCTTTGTTGGACAATCAGCCAGA | ATGATAAGCAAACCTGCAGATTCCCAA    c.780
 Q  A  V  F  F  V  G  Q  S  A  R   | M  I  S  K  P  A  D  S  Q      p.260

          .         .         .         .         .         .       g.37827
 GATGTTCACGAGCTTGTGCTTTCTAAAGAAGATTTTGAGAAGAAGGAGAAAAATAAAGAG       c.840
 D  V  H  E  L  V  L  S  K  E  D  F  E  K  K  E  K  N  K  E         p.280

          .         .         .    | 08    .         .         .    g.43666
 GCAATATATAGTGGATATATTAGAAACAGAAAG | CCCTCTGATTCTGTTCACATTACAAAT    c.900
 A  I  Y  S  G  Y  I  R  N  R  K   | P  S  D  S  V  H  I  T  N      p.300

          .         .         .         .         .         .       g.43726
 GATGATGAAAGATTTCTACATCATCTTATCATAGAGGAGAAGGAAAAAGATAGCTTTACT       c.960
 D  D  E  R  F  L  H  H  L  I  I  E  E  K  E  K  D  S  F  T         p.320

          .         .         .         .         .         .       g.43786
 GCTGTGGTTATCACAGGGGTACAACCAGAACACATACAGTACTTGAAAAATTATTTCCAC       c.1020
 A  V  V  I  T  G  V  Q  P  E  H  I  Q  Y  L  K  N  Y  F  H         p.340

          .         . | 09       .         .         .         .    g.46184
 CTTTGGACACGACAGTTAGC | GCATATTTATCACTACTATATTCATGGCCCAAAAGGAAAT    c.1080
 L  W  T  R  Q  L  A  |  H  I  Y  H  Y  Y  I  H  G  P  K  G  N      p.360

          .         .         .         .         .  | 10      .    g.46952
 GAAATACGAACATCAAAAGAAGTTGAACCTTTCAACAATATTGATATTGAA | ATTTCTATG    c.1140
 E  I  R  T  S  K  E  V  E  P  F  N  N  I  D  I  E   | I  S  M      p.380

          .         .         .         .         .         .       g.47012
 TTTGAAAAAGGGAAGGTACCTAAGATTGTCAACCTAAGGGAAATACAAGACGACATGCAG       c.1200
 F  E  K  G  K  V  P  K  I  V  N  L  R  E  I  Q  D  D  M  Q         p.400

          .         .         .         .         .         .       g.47072
 ACGTTGTATGTAAACACAGCAGCTGATAGTTTTGAATTCAAAGCTCATGTTGAAGGAGAT       c.1260
 T  L  Y  V  N  T  A  A  D  S  F  E  F  K  A  H  V  E  G  D         p.420

          .         .         .         .         .         .       g.47132
 GGTGTAGTGGAAGGGATTATCCGTTATCATCCATTCTTATATGATAGAGAAACTTACCCT       c.1320
 G  V  V  E  G  I  I  R  Y  H  P  F  L  Y  D  R  E  T  Y  P         p.440

          .         .   | 11     .         .         .         .    g.49689
 GATGATCCATGCTTTCCATCAA | AATTAAAAGATGAAGATGATGAAGATGATTGTTTCATA    c.1380
 D  D  P  C  F  P  S  K |   L  K  D  E  D  D  E  D  D  C  F  I      p.460

          .         .         .         .         .         .       g.49749
 CTTGAGAAAGCAGCTAGAGGGAAAAGGCCTATTTTTGAATGTTTTTGGAATGGACGATTA       c.1440
 L  E  K  A  A  R  G  K  R  P  I  F  E  C  F  W  N  G  R  L         p.480

          .         .    | 12    .         .         .         .    g.49884
 ATACCATATACATCAGTTGAAGA | CTTTGACTGGTGTACTCCTCCTAAGAAGAGAGGGCTT    c.1500
 I  P  Y  T  S  V  E  D  |  F  D  W  C  T  P  P  K  K  R  G  L      p.500

          .         .         .         .         .         .       g.49944
 GCACCAATTGAATGCTACAATAGGATATCTGGTGCATTATTCACTAATGACAAATTCCAG       c.1560
 A  P  I  E  C  Y  N  R  I  S  G  A  L  F  T  N  D  K  F  Q         p.520

          .         .         .         .         .         .       g.50004
 GTCAGCACAAATAAATTGACGTTTATGGATCTTGAGCTAAAATTGAAAGATAAGAACACC       c.1620
 V  S  T  N  K  L  T  F  M  D  L  E  L  K  L  K  D  K  N  T         p.540

          .         .        | 13.         .         .         .    g.52837
 CTTTTTACAAGGATTTTAAATGGACAG | GAACAGCGAATGAAAATTGACAGAGAATTTGCT    c.1680
 L  F  T  R  I  L  N  G  Q   | E  Q  R  M  K  I  D  R  E  F  A      p.560

          .         .         .         .         .         .       g.52897
 TTGTGGCTGAAGGACTGTCATGAGAAGTATGATAAACAAATAAAATTTACACTTTTTAAG       c.1740
 L  W  L  K  D  C  H  E  K  Y  D  K  Q  I  K  F  T  L  F  K         p.580

          .         .         .         .         .         .       g.52957
 GGAGTAATTACACGTCCTGATCTTCCTTCTAAAAAGCAAGGTCCCTGGGCAACATATGCA       c.1800
 G  V  I  T  R  P  D  L  P  S  K  K  Q  G  P  W  A  T  Y  A         p.600

          .         .         .         .   | 14     .         .    g.54824
 GCAATAGAATGGGATGGAAAGATATACAAAGCAGGACAGCTG | GTCAAGACAATCAAGACA    c.1860
 A  I  E  W  D  G  K  I  Y  K  A  G  Q  L   | V  K  T  I  K  T      p.620

          .         .         .         .         .         .       g.54884
 CTTCCCCTCTTTTATGGAAGCATAGTAAGATTTTTTCTTTATGGCGATCATGATGGAGAA       c.1920
 L  P  L  F  Y  G  S  I  V  R  F  F  L  Y  G  D  H  D  G  E         p.640

          .         .         .       | 15 .         .         .    g.55500
 GTATATGCTACAGGAGGAGAGGTTCAAATTGCAATG | GAACCTCAGGCACTATATGATGAA    c.1980
 V  Y  A  T  G  G  E  V  Q  I  A  M   | E  P  Q  A  L  Y  D  E      p.660

          .         .         .         .         .         .       g.55560
 GTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAA       c.2040
 V  R  T  V  P  I  A  K  L  D  R  T  V  A  E  K  A  V  K  K         p.680

          .         .    | 16    .         .         .         .    g.56712
 TATGTAGAAGATGAAATGGCAAG | GCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGA    c.2100
 Y  V  E  D  E  M  A  R  |  L  P  D  R  L  S  V  T  W  P  E  G      p.700

          .         .         .         .       | 17 .         .    g.56933
 GATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTG | GTGCGTTAAGAATT    c.2160
 D  E  L  L  P  N  E  V  R  P  A  G  T  P  I  G |   A  L  R  I      p.720

          .         .         .         .         .         .       g.56993
 GAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGG       c.2220
 E  I  L  N  K  K  G  E  A  M  Q  K  L  P  G  T  S  H  G  G         p.740

          .         .         .         . | 18       .         .    g.67290
 TCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATT | CTTCAAGTGGAAATAAAGAG    c.2280
 S  K  K  L  L  V  E  L  K  V  I  L  H  S |   S  S  G  N  K  E      p.760

          .         .         .         .         .         | 19    g.67429
 ATTATTTCGCATATTAGTCAACATGGAGGAAAATGGCCTTACTGGTTTAAAAAAATGG | AA    c.2340
 I  I  S  H  I  S  Q  H  G  G  K  W  P  Y  W  F  K  K  M  E |       p.780

          .         .         .         .         .         .       g.67489
 AATATTCAGAAGTTGGGGAATTATACCTTGAAATTACAAGTTGTGTTGAATGAAAGTAAT       c.2400
 N  I  Q  K  L  G  N  Y  T  L  K  L  Q  V  V  L  N  E  S  N         p.800

          .         .         .         .         .         | 20    g.71633
 GCAGACACTTATGCAGGAAGACCACTACCATCTAAAGCAATTAAGTTTTCTGTTAAAG | AG    c.2460
 A  D  T  Y  A  G  R  P  L  P  S  K  A  I  K  F  S  V  K  E |       p.820

          .         .         .         .         .         .       g.71693
 GGTAAGCCAGAGAAATTTTCATTTGGTCTTCTGGATCTTCCTTTTCGTGTTGGAGTTCCA       c.2520
 G  K  P  E  K  F  S  F  G  L  L  D  L  P  F  R  V  G  V  P         p.840

          .         .         .         .         .         .       g.71753
 TTTAATATCCCTCTGGAGTTTCAGGATGAATTTGGTCATACCAGTCAACTAGTAACTGAT       c.2580
 F  N  I  P  L  E  F  Q  D  E  F  G  H  T  S  Q  L  V  T  D         p.860

          .         .    | 21    .         .         .         .    g.74048
 ATTCAGCCAGTTCTTGAAGCAAG | TGGTTTATCTTTACATTATGAAGAAATAACCAAAGGA    c.2640
 I  Q  P  V  L  E  A  S  |  G  L  S  L  H  Y  E  E  I  T  K  G      p.880

          .         .         .         .         .         .       g.74108
 CCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAG       c.2700
 P  N  C  V  I  R  G  V  T  A  K  G  P  V  N  S  C  Q  G  K         p.900

  | 22       .         .         .         .         .         .    g.75624
  | AATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATT    c.2760
  | N  Y  N  L  K  V  T  L  P  G  L  K  E  D  S  Q  I  L  K  I      p.920

          .    | 23    .         .         .         .         .    g.77616
 AGATTACTACCTG | GTCACCCTCGTCGACTGAAAGTGAAACCTGATTCTGAAATTTTAGTT    c.2820
 R  L  L  P  G |   H  P  R  R  L  K  V  K  P  D  S  E  I  L  V      p.940

          .         .         .         .         .         .       g.77676
 ATAGAAAATGGAACAGCTTTCCCATTTCAGGTGGAAGTTTTAGATGAATCAGACAACATA       c.2880
 I  E  N  G  T  A  F  P  F  Q  V  E  V  L  D  E  S  D  N  I         p.960

          .         .         .    | 24    .         .         .    g.78414
 ACAGCACAACCAAAATTGATTGTTCATTGTAAG | TTTTCAGGTGCTCCAAACCTTCCAGTC    c.2940
 T  A  Q  P  K  L  I  V  H  C  K   | F  S  G  A  P  N  L  P  V      p.980

          .         .         .         .         .         .       g.78474
 TATGTTGTAGATTGCAGTAGTTCTGGAACCAGTATTTTAACAGGATCTGCAATTCAAGTT       c.3000
 Y  V  V  D  C  S  S  S  G  T  S  I  L  T  G  S  A  I  Q  V         p.1000

          .         .         .         .         | 25         .    g.81389
 CAGAATATTAAAAAAGACCAGACGCTTAAAGCAAGAATTGAAATACCT | AGTTGTAAAGAT    c.3060
 Q  N  I  K  K  D  Q  T  L  K  A  R  I  E  I  P   | S  C  K  D      p.1020

          .         .         .         .         .         .       g.81449
 GTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAA       c.3120
 V  A  P  V  E  K  T  I  K  L  L  P  S  S  H  V  A  R  L  Q         p.1040

          .         .         .         .         .         .       g.81509
 ATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGG       c.3180
 I  F  S  V  E  G  Q  K  A  I  Q  I  K  H  Q  D  E  V  N  W         p.1060

          .         .         .         .         .         .       g.81569
 ATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAA       c.3240
 I  A  G  D  I  M  H  N  L  I  F  Q  M  Y  D  E  G  E  R  E         p.1080

          .         .         .       | 26 .         .         .    g.87533
 ATCAATATAACATCAGCTTTAGCAGAAAAAATTAAA | GTTAATTGGACTCCTGAGATTAAC    c.3300
 I  N  I  T  S  A  L  A  E  K  I  K   | V  N  W  T  P  E  I  N      p.1100

          .         .         .         .         .         .       g.87593
 AAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGAT       c.3360
 K  E  H  L  L  Q  G  L  L  P  D  V  Q  V  P  T  S  V  K  D         p.1120

          .         .         .         .         .         .       g.87653
 ATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACA       c.3420
 M  R  Y  C  Q  V  S  F  Q  D  D  H  V  S  L  E  S  A  F  T         p.1140

       | 27  .         .         .         .         .         .    g.88599
 GTAAG | ACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACA    c.3480
 V  R  |  P  L  P  D  E  P  K  H  L  K  C  E  M  K  G  G  K  T      p.1160

          .         .         .     | 28   .         .         .    g.89841
 GTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAG | TTATAATAATTACAGATCAGTACGGA    c.3540
 V  Q  M  G  Q  E  L  Q  G  E  V  V |   I  I  I  T  D  Q  Y  G      p.1180

          .         .         .         .         .         .       g.89901
 AATCAGATTCAAGCATTTTCACCAAGTTCTTTATCTTCTTTGTCAATTGCTGGGGTTGGA       c.3600
 N  Q  I  Q  A  F  S  P  S  S  L  S  S  L  S  I  A  G  V  G         p.1200

          .         .         .    | 29    .         .         .    g.92900
 CTTGATAGCTCAAATTTGAAAACAACCTTTCAG | GAAAACACACAGAGTATAAGTGTAAGA    c.3660
 L  D  S  S  N  L  K  T  T  F  Q   | E  N  T  Q  S  I  S  V  R      p.1220

          .         .         .         .         .         .       g.92960
 GGCATCAAATTTATTCCAGGTCCTCCTGGAAATAAGGATCTTTGTTTTACTTGGCGTGAG       c.3720
 G  I  K  F  I  P  G  P  P  G  N  K  D  L  C  F  T  W  R  E         p.1240

          .         .         .         .         .         .       g.93020
 TTTTCTGACTTTATTCGAGTGCAACTAATTTCTGGACCTCCTGCTAAACTTCTCCTTATA       c.3780
 F  S  D  F  I  R  V  Q  L  I  S  G  P  P  A  K  L  L  L  I         p.1260

          .         .  | 30      .         .         .         .    g.96673
 GACTGGCCAGAACTAAAGGAG | TCCATTCCAGTGATTAATGGAAGAGATTTACAGAACCCT    c.3840
 D  W  P  E  L  K  E   | S  I  P  V  I  N  G  R  D  L  Q  N  P      p.1280

          .         .         .         .         .         .       g.96733
 ATTATTGTTCAACTTTGTGATCAGTGGGATAATCCAGCACCGGTACAACATGTTAAAATA       c.3900
 I  I  V  Q  L  C  D  Q  W  D  N  P  A  P  V  Q  H  V  K  I         p.1300

          .         .        | 31.         .         .         .    g.99188
 AGTCTTACAAAAGCTAGCAATTTAAAG | CTCATGCCTTCAAACCAACAGCATAAAACAGAT    c.3960
 S  L  T  K  A  S  N  L  K   | L  M  P  S  N  Q  Q  H  K  T  D      p.1320

          .         .         .         .        | 32.         .    g.99475
 GAGAAAGGCAGGGCTAATTTGGGAGTATTCAGTGTTTTTGCCCCTAG | GGGAGAGCATACT    c.4020
 E  K  G  R  A  N  L  G  V  F  S  V  F  A  P  R  |  G  E  H  T      p.1340

          .         .         .         .         .         .       g.99535
 CTTCAGGTTAAAGCCATCTATAACAAAAGTATCATAGAAGGACCTATAATTAAGTTAATG       c.4080
 L  Q  V  K  A  I  Y  N  K  S  I  I  E  G  P  I  I  K  L  M         p.1360

          .         .         .         .         .         .       g.99595
 ATTCTTCCAGACCCAGAAAAACCCGTTCGTCTCAATGTTAAATATGACAAAGATGCATCC       c.4140
 I  L  P  D  P  E  K  P  V  R  L  N  V  K  Y  D  K  D  A  S         p.1380

          .         .      | 33  .         .         .         .    g.100425
 TTCTTAGCAGGGGGTCTTTTCACTG | ATTTTATGATTAGTGTTATTTCTGAAGATGACAGT    c.4200
 F  L  A  G  G  L  F  T  D |   F  M  I  S  V  I  S  E  D  D  S      p.1400

          .         .         .         .         .         .       g.100485
 ATCATTAAAAACATTAATCCAGCACGTATTTCCATGAAAATGTGGAAGCTGTCTACCAGT       c.4260
 I  I  K  N  I  N  P  A  R  I  S  M  K  M  W  K  L  S  T  S         p.1420

          .         .  | 34      .         .         .         .    g.101639
 GGGAACCGACCCCCAGCAAAT | GCAGAAACATTTAGTTGTAATAAAATAAAAGATAATGAC    c.4320
 G  N  R  P  P  A  N   | A  E  T  F  S  C  N  K  I  K  D  N  D      p.1440

          .         .       | 35 .         .         .         .    g.109798
 AAAGAAGATGGCTGCTTCTATTTCAG | GGATAAAGTAATTCCTAATAAAGTGGGGACATAT    c.4380
 K  E  D  G  C  F  Y  F  R  |  D  K  V  I  P  N  K  V  G  T  Y      p.1460

          .         .         .         .         .     | 36   .    g.111223
 TGTATCCAGTTTGGTTTTATGATGGATAAAACAAATATTCTCAACAGTGAACAG | GTTATA    c.4440
 C  I  Q  F  G  F  M  M  D  K  T  N  I  L  N  S  E  Q   | V  I      p.1480

          .         .         .         .         .         .       g.111283
 GTTGAAGTCCTGCCTAATCAACCTGTGAAGTTAGTACCTAAAATTAAACCACCTACACCA       c.4500
 V  E  V  L  P  N  Q  P  V  K  L  V  P  K  I  K  P  P  T  P         p.1500

          .         .         .         .         .         .       g.111343
 GCTGTTTCAAATGTTCGCTCAGTTGCCAGTAGGACCTTGGTCAGAGATCTACATCTTAGT       c.4560
 A  V  S  N  V  R  S  V  A  S  R  T  L  V  R  D  L  H  L  S         p.1520

        | 37 .         .         .         .         .         .    g.112803
 ATCACG | GATGACTACGACAACCATACTGGAATTGATTTGGTTGGCACTATAATAGCCACC    c.4620
 I  T   | D  D  Y  D  N  H  T  G  I  D  L  V  G  T  I  I  A  T      p.1540

          .         .         .         .         .         .       g.112863
 ATTAAAGGCTCTAATGAGGAAGATACTGATACCCCACTTTTTATTGGGAAAGTTAGAACA       c.4680
 I  K  G  S  N  E  E  D  T  D  T  P  L  F  I  G  K  V  R  T         p.1560

          .         .         .          | 38        .         .    g.118827
 CTTGAATTCCCCTTCGTGAATGGTTCGGCTGAAATCATG | AGTCTGGTGCTGGCAGAAAGT    c.4740
 L  E  F  P  F  V  N  G  S  A  E  I  M   | S  L  V  L  A  E  S      p.1580

          .         .         .         .         .         .       g.118887
 AGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTA       c.4800
 S  P  G  R  D  S  T  E  Y  F  I  V  F  E  P  R  L  P  L  L         p.1600

          .         .         .         .       | 39 .         .    g.119115
 TCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATG | ATGTTAAGAAGCAG    c.4860
 S  R  T  L  E  P  Y  I  L  P  F  M  F  Y  N  D |   V  K  K  Q      p.1620

          .         .         .         .         .         .       g.119175
 CAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTAT       c.4920
 Q  Q  M  A  A  L  T  K  E  K  D  Q  L  S  Q  S  I  V  M  Y         p.1640

          .         .         .         .       | 40 .         .    g.120659
 AAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAAT | GTCAAGTTGAAGAA    c.4980
 K  S  L  F  E  A  S  Q  Q  L  L  N  E  M  K  C |   Q  V  E  E      p.1660

          .         .         .         .         .         .       g.120719
 GCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCT       c.5040
 A  R  L  K  E  A  Q  L  R  N  E  L  K  I  H  N  I  D  I  P         p.1680

          .   | 41     .         .         .         .         .    g.121410
 ACAACACAACAG | GTGCCACACATTGAAGCACTTCTGAAAAGAAAGCTATCAGAACAAGAA    c.5100
 T  T  Q  Q   | V  P  H  I  E  A  L  L  K  R  K  L  S  E  Q  E      p.1700

          .         .         .         .         .         .       g.121470
 GAACTGAAGAAAAAACCTAGAAGATCGTGTACTCTTCCAAACTATACTAAAGGCAGTGGA       c.5160
 E  L  K  K  K  P  R  R  S  C  T  L  P  N  Y  T  K  G  S  G         p.1720

          .      | 42  .         .         .         .         .    g.124891
 GATGTTTTGGGAAAG | ATTGCACATCTAGCACAAATTGAAGATGATAGAGCTGCGATGGTT    c.5220
 D  V  L  G  K   | I  A  H  L  A  Q  I  E  D  D  R  A  A  M  V      p.1740

          .         .         .         .         .         .       g.124951
 ATTTCTTGGCATCTGGCAAGTGACATGGACTGTGTAGTCACCCTAACCACTGACGCTGCA       c.5280
 I  S  W  H  L  A  S  D  M  D  C  V  V  T  L  T  T  D  A  A         p.1760

          .         .         .         .         .         .       g.125011
 CGTCGTATCTATGATGAAACCCAAGGTCGTCAGCAGGTGTTGCCCCTTGATTCTATTTAC       c.5340
 R  R  I  Y  D  E  T  Q  G  R  Q  Q  V  L  P  L  D  S  I  Y         p.1780

          .         .       | 43 .         .         .         .    g.126952
 AAGAAGACTCTTCCAGATTGGAAAAG | ATCTCTACCTCATTTCCGAAATGGAAAATTGTAT    c.5400
 K  K  T  L  P  D  W  K  R  |  S  L  P  H  F  R  N  G  K  L  Y      p.1800

          .         .         .         .         .         .       g.127012
 TTTAAACCCATTGGAGATCCAGTCTTTGCTCGAGACTTGTTAACATTTCCAGATAATGTA       c.5460
 F  K  P  I  G  D  P  V  F  A  R  D  L  L  T  F  P  D  N  V         p.1820

          .       | 44 .         .         .         .         .    g.127325
 GAACATTGTGAAACAG | TATTTGGTATGCTGTTAGGAGACACCATTATTTTGGATAATCTG    c.5520
 E  H  C  E  T  V |   F  G  M  L  L  G  D  T  I  I  L  D  N  L      p.1840

          .         .        | 45.         .         .         .    g.133595
 GATGCGGCCAATCATTATAGAAAAGAG | GTTGTTAAAATTACACACTGTCCTACACTGCTG    c.5580
 D  A  A  N  H  Y  R  K  E   | V  V  K  I  T  H  C  P  T  L  L      p.1860

          .         .         .         .         .         .       g.133655
 ACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCT       c.5640
 T  R  D  G  D  R  I  R  S  N  G  K  F  G  G  L  Q  N  K  A         p.1880

          .         .         .         .         .         .       g.133715
 CCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTG       c.5700
 P  P  M  D  K  L  R  G  M  V  F  G  A  P  V  P  K  Q  C  L         p.1900

          .          | 46        .         .         .         .    g.145102
 ATCTTAGGGGAACAAATAG | ATCTTCTTCAGCAGTATCGTTCTGCTGTGTGCAAACTAGAC    c.5760
 I  L  G  E  Q  I  D |   L  L  Q  Q  Y  R  S  A  V  C  K  L  D      p.1920

          .         .         .         .         .         .       g.145162
 AGTGTGAATAAGGATCTTAACAGTCAATTAGAGTACCTTCGCACTCCGGATATGAGGAAG       c.5820
 S  V  N  K  D  L  N  S  Q  L  E  Y  L  R  T  P  D  M  R  K         p.1940

          .         .         .         .         .         | 47    g.145521
 AAAAAGCAAGAACTTGATGAACATGAGAAAAATCTCAAACTAATAGAGGAAAAACTAG | GT    c.5880
 K  K  Q  E  L  D  E  H  E  K  N  L  K  L  I  E  E  K  L  G |       p.1960

          .         .         .         .         .         .       g.145581
 ATGACTCCCATACGTAAGTGTAATGACTCATTGCGTCATTCACCAAAGGTTGAGACGACA       c.5940
 M  T  P  I  R  K  C  N  D  S  L  R  H  S  P  K  V  E  T  T         p.1980

          .         .         .         .         .    | 48    .    g.151647
 GATTGTCCAGTTCCTCCTAAAAGAATGAGACGAGAAGCTACAAGACAAAATAG | GATTATA    c.6000
 D  C  P  V  P  P  K  R  M  R  R  E  A  T  R  Q  N  R  |  I  I      p.2000

          .                                                         g.151665
 ACCAAAACAGATGTATGA                                                 c.6018
 T  K  T  D  V  X                                                   p.2005

          .         .         .         .         .         .       g.151725
 gaggtgacagagagaagaggccattggtctcagtaagaatgccctgctttctgcatctct       c.*60

          .         .         .         .         .         .       g.151785
 gtttcagaagaccaagagggtgacttaccagactgagtatttctggggacaatacaagta       c.*120

          .         .         .         .         .         .       g.151845
 cctgggcatgaatttccatttcgattcagatgggactggaaacaaccattcaattttatg       c.*180

          .         .         .         .         .         .       g.151905
 aatcttactggacattatggatttactggaattattccagacattatgccctttggttgt       c.*240

          .         .         .         .         .         .       g.151965
 cactaccttgcaaatgtgtaagaggaaaatgtgctaatgtggcagtgactgtaaaactgg       c.*300

          .         .         .         .         .         .       g.152025
 cacatggcatttattaatcctgaagaaaagtacatgtactatttttcagtataaatataa       c.*360

          .         .         .         .         .         .       g.152085
 tgaacatgtcagaactatttcttgaaaacctttttattacttttgcgtgaatttatttaa       c.*420

          .         .         .         .         .         .       g.152145
 caaagatgttttgtcttttgtgtaagggaggttctagaggctagatgtttaattgtaaat       c.*480

          .         .         .         .         .         .       g.152205
 atgtgaggaaactcaatgcagaattcaggataaaaattttaaaagcacaggtatttggga       c.*540

          .         .         .         .         .         .       g.152265
 attgaaatgttaagatacccagaacaacattaaatcaatgagtgaacttgtgacagtggt       c.*600

          .         .         .         .         .         .       g.152325
 agcatttcaaatttcaaaagacttatcctgtgtgtgtgtgtgtgtgtatatatatatata       c.*660

          .         .         .         .         .         .       g.152385
 tatataaatatatatatataaaatattcagcagcaccaagttttataactattgtttgtt       c.*720

          .         .         .         .         .         .       g.152445
 tgactttattaatactagaatatgtagtctcagccttaattttacatttacattattttg       c.*780

          .         .         .         .         .         .       g.152505
 taattttttattactatttttaaggggttaaagagaacatacattctcacattagtgtac       c.*840

          .         .         .         .         .         .       g.152565
 tttctggtagaaagttgctgcaaaaacatttgaaatgtatattaacctaatgtatgtcat       c.*900

          .         .         .         .         .         .       g.152625
 atatatgtctttgtgtaagttcaagactattgatctgtgaagttattttgtaaggacata       c.*960

          .         .         .         .         .         .       g.152685
 catttggtaagtaagtttgtgtcccaggaaatgtatgtgtttttaaaccctttctaaata       c.*1020

          .         .         .         .         .         .       g.152745
 tgcaggccattaataaataagattgtttcttccctactgaatagataagtgtttttcttt       c.*1080

          .         .         .         .         .         .       g.152805
 tttaaaattggaagcttcataaaagttatcttgttaaaaaacgatgatgatgttaaccta       c.*1140

          .         .         .         .         .         .       g.152865
 tctatctttataattggaaattatttaaactgtttgttgttacagaagaaacaaaatggt       c.*1200

          .         .         .         .         .         .       g.152925
 aattacagaattagctgtggggaagattggctcccatggtactacaggttgagtatccct       c.*1260

          .         .         .         .         .         .       g.152985
 tattcaaaatggttgggacctgaagtgttttggattttggttttttgtggggtttttaaa       c.*1320

          .         .         .         .         .         .       g.153045
 ttattattttggaatatttgcattatatttaccaatttagcatccctaatccaaaaatct       c.*1380

          .         .         .         .         .         .       g.153105
 ttcattagaaattggaaatgcttcaatgagcatttcccttatgtgtcatatctgcgctca       c.*1440

          .         .         .         .         .         .       g.153165
 aatgttttgaattttggaacatttcttgtttctgacttttagattagggatactcacccc       c.*1500

          .         .         .         .         .         .       g.153225
 gtaccaatatttggagtccttagacattagattatatgaaaatgattgattgataggtaa       c.*1560

          .         .         .         .         .         .       g.153285
 gaaaggttaaagagaaatgactttttaggaactagacttgaacgtataattaatatgtgg       c.*1620

          .         .         .         .         .         .       g.153345
 aactagtttgcttttataattcattgtatcaagaaggagtcatgttttaaatccaaggca       c.*1680

          .         .         .         .         .         .       g.153405
 ttgagactatctagaagcaaaaaagttggttttaaaaattctttttattagaagtgtgtt       c.*1740

          .         .         .         .         .         .       g.153465
 taaaaacatgtctttttttcccttgagcgacagtggcctcactacattgcccaggctagt       c.*1800

          .         .         .         .         .         .       g.153525
 cttgaactcctgggttcaagcagtcttcctgccttggcctcctaagtagcagggattaca       c.*1860

          .         .         .         .         .         .       g.153585
 ggcatgcacccacatgccaatttttattgcttaaaatggcgagttctatggatattatct       c.*1920

          .         .         .         .         .         .       g.153645
 agccccaagcccatatctgtacacttttgttcattttataataccagaaagaatgttcta       c.*1980

          .         .         .         .         .         .       g.153705
 tcagtaaaagaaggtttttaagtatgaatctccatttttgtggagtttttctaccctgta       c.*2040

          .         .         .         .         .         .       g.153765
 aaaattaactttgtggttcccagtaattacagtaaggagtttttctatattttcacagtt       c.*2100

          .         .         .         .         .         .       g.153825
 ggatttatctaaggatatttctcagcatattaaggaatccttttctacatttgagcaaat       c.*2160

          .         .         .         .         .         .       g.153885
 actgaggttcatgttgtaccaaataataataaattgcttttgtgtttaatatgtaacacg       c.*2220

          .         .         .         .         .         .       g.153945
 taagaacaattgaaattttcttctaagatttaatactagtcttttagtataaaggaatgt       c.*2280

          .         .         .         .         .         .       g.154005
 aactggagaaaaaaattaatgctacagccatttatcctgtgttatgtgttatataatctg       c.*2340

          .         .         .         .         .         .       g.154065
 aaatttgtcacaatgttacaatcaggaagttttttttctggtttcttcttccaaaggaaa       c.*2400

          .         .         .         .         .         .       g.154125
 ataatagcctacttgtattttgaagtaactgaaataaaactctctccaagcctttttgca       c.*2460

                                                                    g.154130
 catta                                                              c.*2465

 (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 Structural maintenance of chromosomes flexible hinge domain containing 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 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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