PR domain containing 16 (PRDM16) - coding DNA reference sequence

(used for variant description)

(last modified June 22, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_022114.3 in the PRDM16 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_029576.1, covering PRDM16 transcript NM_022114.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5022
                                       ctgacaatgctggggagatgaa       c.-61

 .         .         .         .         .         .                g.5082
 gatagtgtgtggctgcttctggactcaaggaggaggagagagattccgcgagccgacacc       c.-1

          .         .         .        | 02.         .         .    g.121970
 ATGCGATCCAAGGCGAGGGCGAGGAAGCTAGCCAAAA | GTGACGGTGACGTTGTAAATAAT    c.60
 M  R  S  K  A  R  A  R  K  L  A  K  S |   D  G  D  V  V  N  N      p.20

          .         .         .         .         .         .       g.122030
 ATGTATGAGCCCAACCGGGACCTGCTGGCCAGCCACAGCGCGGAGGACGAGGCCGAGGAC       c.120
 M  Y  E  P  N  R  D  L  L  A  S  H  S  A  E  D  E  A  E  D         p.40

          .         .         .         .         .         .       g.122090
 AGTGCCATGTCGCCCATCCCCGTGGGGCCACCGTCCCCCTTCCCCACCAGCGAGGACTTC       c.180
 S  A  M  S  P  I  P  V  G  P  P  S  P  F  P  T  S  E  D  F         p.60

          .         .         .         .         .         .       g.122150
 ACCCCCAAGGAGGGCTCGCCGTACGAGGCCCCTGTCTACATTCCTGAAGACATTCCGATC       c.240
 T  P  K  E  G  S  P  Y  E  A  P  V  Y  I  P  E  D  I  P  I         p.80

          .         .         .         .         .         .       g.122210
 CCAGCAGACTTCGAGCTCCGAGAGTCCTCCATCCCAGGGGCTGGCCTGGGGGTCTGGGCC       c.300
 P  A  D  F  E  L  R  E  S  S  I  P  G  A  G  L  G  V  W  A         p.100

          .         .         .         .         .         .       g.122270
 AAGAGGAAGATGGAAGCCGGGGAGAGGCTGGGCCCCTGCGTGGTGGTGCCCCGGGCGGCG       c.360
 K  R  K  M  E  A  G  E  R  L  G  P  C  V  V  V  P  R  A  A         p.120

          .         .        | 03.         .         .         .    g.179942
 GCAAAGGAGACAGACTTCGGATGGGAG | CAAATACTGACGGACGTGGAAGTGTCGCCCCAG    c.420
 A  K  E  T  D  F  G  W  E   | Q  I  L  T  D  V  E  V  S  P  Q      p.140

          .         | 04         .         .         .         .    g.321016
 GAAGGCTGCATCACAAAG | ATCTCCGAAGACCTGGGCAGTGAGAAGTTCTGCGTGGATGCA    c.480
 E  G  C  I  T  K   | I  S  E  D  L  G  S  E  K  F  C  V  D  A      p.160

          .         .         .         .         .         .       g.321076
 AATCAGGCGGGGGCTGGCAGCTGGCTCAAGTACATCCGTGTGGCGTGCTCCTGCGATGAC       c.540
 N  Q  A  G  A  G  S  W  L  K  Y  I  R  V  A  C  S  C  D  D         p.180

          .         .         .    | 05    .         .         .    g.332340
 CAGAACCTCACCATGTGTCAGATCAGTGAGCAG | ATTTACTATAAAGTCATTAAGGACATT    c.600
 Q  N  L  T  M  C  Q  I  S  E  Q   | I  Y  Y  K  V  I  K  D  I      p.200

          .         .         .         .         .         .       g.332400
 GAGCCAGGTGAGGAGCTGCTGGTGCACGTGAAGGAAGGCGTCTACCCCCTGGGCACAGTG       c.660
 E  P  G  E  E  L  L  V  H  V  K  E  G  V  Y  P  L  G  T  V         p.220

          .       | 06 .         .         .         .         .    g.338657
 CCGCCCGGCCTGGACG | AGGAGCCCACGTTCCGCTGTGACGAGTGTGACGAACTCTTCCAG    c.720
 P  P  G  L  D  E |   E  P  T  F  R  C  D  E  C  D  E  L  F  Q      p.240

          .         .         .         .         .         .       g.338717
 TCCAAGCTGGACCTGCGGCGCCATAAGAAGTACACGTGTGGCTCAGTGGGGGCTGCGCTC       c.780
 S  K  L  D  L  R  R  H  K  K  Y  T  C  G  S  V  G  A  A  L         p.260

          .         .         .         .         .         .       g.338777
 TACGAGGGCCTGGCTGAGGAGCTCAAGCCCGAGGGCCTTGGCGGTGGCAGCGGCCAAGCC       c.840
 Y  E  G  L  A  E  E  L  K  P  E  G  L  G  G  G  S  G  Q  A         p.280

          .         .         .         .     | 07   .         .    g.340577
 CACGAGTGCAAGGACTGCGAGCGGATGTTCCCCAACAAGTACAG | CCTGGAGCAGCACATG    c.900
 H  E  C  K  D  C  E  R  M  F  P  N  K  Y  S  |  L  E  Q  H  M      p.300

          .         .         .         .         .         .       g.340637
 GTCATCCACACGGAGGAGCGCGAGTACAAATGCGACCAGTGTCCCAAGGCCTTCAACTGG       c.960
 V  I  H  T  E  E  R  E  Y  K  C  D  Q  C  P  K  A  F  N  W         p.320

          .         .         .         .         .         .       g.340697
 AAGTCCAACCTCATCCGCCACCAGATGTCCCACGACAGCGGCAAACGCTTCGAATGTGAA       c.1020
 K  S  N  L  I  R  H  Q  M  S  H  D  S  G  K  R  F  E  C  E         p.340

          .   | 08     .         .         .         .         .    g.341365
 AACTGCGTGAAG | GTGTTCACGGACCCCAGCAACCTTCAGCGGCACATCCGCTCGCAGCAC    c.1080
 N  C  V  K   | V  F  T  D  P  S  N  L  Q  R  H  I  R  S  Q  H      p.360

          .         .         .         .         .         .       g.341425
 GTGGGCGCTCGGGCCCACGCCTGCCCCGACTGCGGGAAGACCTTCGCCACGTCCTCCGGC       c.1140
 V  G  A  R  A  H  A  C  P  D  C  G  K  T  F  A  T  S  S  G         p.380

          .         .         .         .       | 09 .         .    g.347220
 CTCAAGCAGCACAAGCATATCCACAGCACGGTGAAGCCTTTCATAT | GTGAGGTCTGCCAC    c.1200
 L  K  Q  H  K  H  I  H  S  T  V  K  P  F  I  C |   E  V  C  H      p.400

          .         .         .         .         .         .       g.347280
 AAGTCCTACACGCAGTTCTCCAACCTGTGCCGGCACAAGCGGATGCACGCCGACTGCCGC       c.1260
 K  S  Y  T  Q  F  S  N  L  C  R  H  K  R  M  H  A  D  C  R         p.420

          .         .         .         .         .         .       g.347340
 ACGCAGATCAAGTGCAAGGACTGTGGCCAGATGTTCAGCACTACCTCCTCCCTCAACAAG       c.1320
 T  Q  I  K  C  K  D  C  G  Q  M  F  S  T  T  S  S  L  N  K         p.440

          .         .         .         .         .         .       g.347400
 CACCGGCGCTTCTGCGAGGGCAAGAACCATTACACGCCGGGCGGCATCTTTGCCCCGGGC       c.1380
 H  R  R  F  C  E  G  K  N  H  Y  T  P  G  G  I  F  A  P  G         p.460

          .         .         .         .         .         .       g.347460
 CTGCCCTTGACCCCCAGCCCCATGATGGACAAGGCAAAACCCTCCCCCAGCCTCAATCAC       c.1440
 L  P  L  T  P  S  P  M  M  D  K  A  K  P  S  P  S  L  N  H         p.480

          .         .         .         .         .         .       g.347520
 GCCAGCCTGGGCTTCAACGAGTACTTTCCCTCCAGGCCGCACCCGGGGAGCCTGCCCTTC       c.1500
 A  S  L  G  F  N  E  Y  F  P  S  R  P  H  P  G  S  L  P  F         p.500

          .         .         .         .         .         .       g.347580
 TCCACGGCGCCTCCCACGTTCCCCGCACTCACCCCCGGCTTCCCGGGCATCTTCCCTCCA       c.1560
 S  T  A  P  P  T  F  P  A  L  T  P  G  F  P  G  I  F  P  P         p.520

          .         .         .         .         .         .       g.347640
 TCCTTGTACCCCCGGCCGCCTCTGCTACCTCCCACATCGCTGCTCAAGAGCCCCCTGAAC       c.1620
 S  L  Y  P  R  P  P  L  L  P  P  T  S  L  L  K  S  P  L  N         p.540

          .         .         .         .         .         .       g.347700
 CACACCCAGGACGCCAAGCTCCCCAGTCCCCTGGGGAACCCAGCCCTGCCCCTGGTCTCC       c.1680
 H  T  Q  D  A  K  L  P  S  P  L  G  N  P  A  L  P  L  V  S         p.560

          .         .         .         .         .         .       g.347760
 GCCGTCAGCAACAGCAGCCAGGGCACGACGGCAGCTGCGGGGCCCGAGGAGAAGTTCGAG       c.1740
 A  V  S  N  S  S  Q  G  T  T  A  A  A  G  P  E  E  K  F  E         p.580

          .         .         .         .         .         .       g.347820
 AGCCGCCTGGAGGACTCCTGTGTGGAGAAGCTGAAGACCAGGAGCAGCGACATGTCGGAC       c.1800
 S  R  L  E  D  S  C  V  E  K  L  K  T  R  S  S  D  M  S  D         p.600

          .         .         .         .         .         .       g.347880
 GGCAGTGACTTTGAGGACGTCAACACCACCACGGGGACCGACCTGGACACGACCACGGGG       c.1860
 G  S  D  F  E  D  V  N  T  T  T  G  T  D  L  D  T  T  T  G         p.620

          .         .         .         .         .         .       g.347940
 ACGGGCTCGGACCTGGACAGCGACGTGGACAGCGACCCTGACAAGGACAAGGGCAAGGGC       c.1920
 T  G  S  D  L  D  S  D  V  D  S  D  P  D  K  D  K  G  K  G         p.640

          .         .         .         .         .         .       g.348000
 AAGTCCGCCGAGGGCCAGCCCAAGTTTGGGGGCGGCTTGGCGCCCCCGGGGGCCCCGAAC       c.1980
 K  S  A  E  G  Q  P  K  F  G  G  G  L  A  P  P  G  A  P  N         p.660

          .         .         .         .         .         .       g.348060
 AGCGTGGCCGAGGTGCCTGTCTTCTATTCCCAGCACTCATTCTTCCCGCCACCCGACGAG       c.2040
 S  V  A  E  V  P  V  F  Y  S  Q  H  S  F  F  P  P  P  D  E         p.680

          .         .         .         .         .         .       g.348120
 CAGCTGCTGACTGCAACGGGCGCCGCCGGGGACTCCATCAAGGCCATCGCATCCATTGCC       c.2100
 Q  L  L  T  A  T  G  A  A  G  D  S  I  K  A  I  A  S  I  A         p.700

          .         .         .         .         .         .       g.348180
 GAGAAGTACTTTGGCCCCGGCTTCATGGGGATGCAGGAGAAGAAGCTGGGCTCGCTCCCC       c.2160
 E  K  Y  F  G  P  G  F  M  G  M  Q  E  K  K  L  G  S  L  P         p.720

          .         .         .         .         .         .       g.348240
 TACCACTCGGCGTTCCCCTTCCAGTTCCTGCCCAACTTCCCCCACTCCCTTTACCCCTTC       c.2220
 Y  H  S  A  F  P  F  Q  F  L  P  N  F  P  H  S  L  Y  P  F         p.740

          .         .         .         .         .         .       g.348300
 ACGGACCGAGCCCTCGCCCACAACTTGCTGGTCAAGGCCGAGCCAAAGTCACCCCGGGAC       c.2280
 T  D  R  A  L  A  H  N  L  L  V  K  A  E  P  K  S  P  R  D         p.760

          .         .         .         .         .         .       g.348360
 GCCCTCAAGGTGGGCGGCCCCAGTGCCGAGTGCCCCTTTGATCTCACCACCAAGCCCAAA       c.2340
 A  L  K  V  G  G  P  S  A  E  C  P  F  D  L  T  T  K  P  K         p.780

          .         .         .         .         .         .       g.348420
 GACGTGAAGCCCATCCTGCCCATGCCCAAGGGCCCCTCGGCCCCCGCATCCGGCGAGGAG       c.2400
 D  V  K  P  I  L  P  M  P  K  G  P  S  A  P  A  S  G  E  E         p.800

          .         .         .         .         .         .       g.348480
 CAGCCGCTGGACCTGAGCATCGGCAGCCGGGCCCGTGCCAGCCAAAACGGCGGCGGGCGG       c.2460
 Q  P  L  D  L  S  I  G  S  R  A  R  A  S  Q  N  G  G  G  R         p.820

          .         .         .         .         .         .       g.348540
 GAGCCCCGCAAGAACCACGTCTATGGGGAACGCAAGCTGGGCGCCGGCGAGGGGCTGCCC       c.2520
 E  P  R  K  N  H  V  Y  G  E  R  K  L  G  A  G  E  G  L  P         p.840

          .         .         .         .         .         .       g.348600
 CAGGTGTGCCCGGCGCGGATGCCCCAGCAGCCCCCGCTCCACTACGCCAAGCCCTCGCCC       c.2580
 Q  V  C  P  A  R  M  P  Q  Q  P  P  L  H  Y  A  K  P  S  P         p.860

          .         .    | 10    .         .         .         .    g.350419
 TTCTTCATGGACCCCATCTACAG | CAGGGTAGAAAAGCGGAAGGTCACAGACCCCGTGGGA    c.2640
 F  F  M  D  P  I  Y  S  |  R  V  E  K  R  K  V  T  D  P  V  G      p.880

          .         .         .         .         .  | 11      .    g.353659
 GCCCTGAAGGAGAAGTACCTGCGGCCGTCCCCGCTGCTCTTCCACCCCCAG | ATGTCAGCC    c.2700
 A  L  K  E  K  Y  L  R  P  S  P  L  L  F  H  P  Q   | M  S  A      p.900

          .         .         .         .         .         .       g.353719
 ATAGAGACCATGACAGAGAAGCTGGAGAGCTTTGCAGCCATGAAGGCGGACTCGGGCAGC       c.2760
 I  E  T  M  T  E  K  L  E  S  F  A  A  M  K  A  D  S  G  S         p.920

          .         .         .         .         .         .       g.353779
 TCCCTGCAGCCCCTCCCCCACCACCCCTTCAACTTCCGGTCCCCACCCCCAACGCTCTCC       c.2820
 S  L  Q  P  L  P  H  H  P  F  N  F  R  S  P  P  P  T  L  S         p.940

          .         .         .         .  | 12      .         .    g.354508
 GACCCCATCCTCAGGAAGGGCAAGGAGCGATACACGTGCAG | GTACTGTGGGAAGATCTTC    c.2880
 D  P  I  L  R  K  G  K  E  R  Y  T  C  R  |  Y  C  G  K  I  F      p.960

          .         .         .         .         .          | 13    g.361404
 CCCAGATCAGCCAATCTCACCAGACACCTGAGGACGCACACTGGGGAGCAGCCGTACAG | G    c.2940
 P  R  S  A  N  L  T  R  H  L  R  T  H  T  G  E  Q  P  Y  R  |      p.980

          .         .         .         .         .         .       g.361464
 TGTAAGTACTGCGACCGCTCCTTCAGCATCTCTTCGAACCTCCAGCGGCACGTCCGGAAC       c.3000
 C  K  Y  C  D  R  S  F  S  I  S  S  N  L  Q  R  H  V  R  N         p.1000

          .         .         .         .         .         .       g.361524
 ATCCACAACAAGGAGAAGCCTTTCAAGTGCCACCTGTGCAACCGCTGCTTCGGGCAGCAG       c.3060
 I  H  N  K  E  K  P  F  K  C  H  L  C  N  R  C  F  G  Q  Q         p.1020

          .         .         .         .          | 14        .    g.361884
 ACCAACCTGGACCGGCACCTCAAGAAGCACGAGCACGAGAACGCACCAG | TGAGCCAGCAC    c.3120
 T  N  L  D  R  H  L  K  K  H  E  H  E  N  A  P  V |   S  Q  H      p.1040

          .         .         .         .         .         .       g.361944
 CCCGGGGTCCTCACGAACCACCTGGGGACCAGCGCGTCCTCTCCCACCTCAGAGTCGGAC       c.3180
 P  G  V  L  T  N  H  L  G  T  S  A  S  S  P  T  S  E  S  D         p.1060

          .         .         .         .         .         .       g.362004
 AACCACGCACTTTTAGACGAGAAAGAAGACTCTTATTTCTCGGAAATCAGAAACTTTATT       c.3240
 N  H  A  L  L  D  E  K  E  D  S  Y  F  S  E  I  R  N  F  I         p.1080

          .         .         .         .     | 15   .         .    g.366710
 GCCAATAGTGAGATGAACCAAGCATCAACGCGAACAGAGAAACG | GGCGGACATGCAGATC    c.3300
 A  N  S  E  M  N  Q  A  S  T  R  T  E  K  R  |  A  D  M  Q  I      p.1100

          .         .         .         .         .         .       g.366770
 GTGGACGGCAGTGCCCAGTGTCCAGGCCTAGCCAGTGAGAAGCAGGAGGACGTGGAGGAG       c.3360
 V  D  G  S  A  Q  C  P  G  L  A  S  E  K  Q  E  D  V  E  E         p.1120

          .         .         .         .         .         .       g.366830
 GAGGACGACGATGACCTGGAGGAGGACGATGAGGACAGCCTGGCCGGGAAGTCGCAGGAT       c.3420
 E  D  D  D  D  L  E  E  D  D  E  D  S  L  A  G  K  S  Q  D         p.1140

          .         .         .         .         .         .       g.366890
 GACACCGTGTCCCCCGCACCCGAGCCCCAGGCCGCCTACGAGGATGAGGAGGATGAGGAG       c.3480
 D  T  V  S  P  A  P  E  P  Q  A  A  Y  E  D  E  E  D  E  E         p.1160

          .         .         .         .  | 16      .         .    g.367807
 CCAGCCGCCTCCCTGGCCGTGGGCTTTGACCACACCCGAAG | GTGTGCTGAGGACCACGAA    c.3540
 P  A  A  S  L  A  V  G  F  D  H  T  R  R  |  C  A  E  D  H  E      p.1180

          .         .         .         .         .         .       g.367867
 GGCGGTCTGTTAGCTTTGGAGCCGATGCCGACTTTTGGGAAGGGGCTGGACCTCCGCAGA       c.3600
 G  G  L  L  A  L  E  P  M  P  T  F  G  K  G  L  D  L  R  R         p.1200

          .         .         .         .         .         .       g.367927
 GCAGCTGAGGAAGCATTTGAAGTTAAAGATGTGCTTAATTCCACCTTAGATTCTGAGGCT       c.3660
 A  A  E  E  A  F  E  V  K  D  V  L  N  S  T  L  D  S  E  A         p.1220

          .         .         .       | 17 .         .         .    g.369523
 TTAAAACATACACTGTGCAGGCAGGCTAAGAACCAG | GCATATGCAATGATGCTGTCCCTT    c.3720
 L  K  H  T  L  C  R  Q  A  K  N  Q   | A  Y  A  M  M  L  S  L      p.1240

          .         .         .         .         .         .       g.369583
 TCCGAAGACACTCCTCTCCACACCCCCTCCCAGGGTTCTCTGGACGCTTGGTTGAAGGTC       c.3780
 S  E  D  T  P  L  H  T  P  S  Q  G  S  L  D  A  W  L  K  V         p.1260

          .         .         .         .         .                 g.369634
 ACTGGAGCCACGTCGGAGTCTGGAGCATTTCACCCCATCAACCACCTCTGA                c.3831
 T  G  A  T  S  E  S  G  A  F  H  P  I  N  H  L  X                  p.1276

          .         .         .         .         .         .       g.369694
 cgggctgggcagccgggggccggtggccagagcgagggcaccagccacgaaggacggagg       c.*60

          .         .         .         .         .         .       g.369754
 cgggcggggccccggagaaccctgtccctgcgtgtggccactcctcagcatcctccccac       c.*120

          .         .         .         .         .         .       g.369814
 ccaccatggttcattccgacttttccaatggaaactcagatcccaaaagtccctaaagca       c.*180

          .         .         .         .         .         .       g.369874
 gtcgtagagtctcaccatctccaaggattggtcttgagaacactgttcagtgacggccat       c.*240

          .         .         .         .         .         .       g.369934
 gcaggtggccgtccaaagacagccaacggagctgcctcgcagaatcagccagtgggcagg       c.*300

          .         .         .         .         .         .       g.369994
 tggacgctctgctgagacagaagctggtggccactgccgggtgcccgcgtggggtcgcgg       c.*360

          .         .         .         .         .         .       g.370054
 aagggaatggatagactggtgtgctcaaaagagagagatcactcaaatgatttttataat       c.*420

          .         .         .         .         .         .       g.370114
 gaaatgacaagaataacccttttggtaaccgtattgactgcagagtctatttaagcatgt       c.*480

          .         .         .         .         .         .       g.370174
 ggttttaaaaatagacagtattttttaaaaatcaaaaaatgacttgcaaattgtttttta       c.*540

          .         .         .         .         .         .       g.370234
 aaagtaattttgcattgctttgaaatttgagctcatttgcaaacccgagtctgcctggga       c.*600

          .         .         .         .         .         .       g.370294
 acccgcactgtgcctgggtgtattctttatactgtagataatggagaaattttctatctc       c.*660

          .         .         .         .         .         .       g.370354
 tgtccctatttgtataagccaaggtgatgctgggtgccccgaggcagaacaagaggcgcg       c.*720

          .         .         .         .         .         .       g.370414
 gggccacacccgtgaaccatgcagacggccgaagaagtcttaggcagggcgccctgggct       c.*780

          .         .         .         .         .         .       g.370474
 gcaggcctgcccgaggctgggatgggaagtgtgcctgccctcgtgtgacatggaattggt       c.*840

          .         .         .         .         .         .       g.370534
 gtcaggaccgccacgtggccttcagaggaatccacaggtccccacccaagatccctcaat       c.*900

          .         .         .         .         .         .       g.370594
 tatatggggaagtcgagggcctgtggcttggatccgccatgcagagatgtggccgggcac       c.*960

          .         .         .         .         .         .       g.370654
 ccatcttccttccctcctctgtccctgcctcggccaccccacgcgggaacccagcgccgt       c.*1020

          .         .         .         .         .         .       g.370714
 cctctgaaggcagggccttggccacgtcctgggtctcccacctcccacctgaccccagcg       c.*1080

          .         .         .         .         .         .       g.370774
 gctccggtgtcctccacgtggctgccctggggagcaatcccagcggatcgctccgggcca       c.*1140

          .         .         .         .         .         .       g.370834
 ccaagccgcacctgtgcctgagactccggatggacgacacagtcgtcacgtcgctcttcc       c.*1200

          .         .         .         .         .         .       g.370894
 tgcgggttcttggcgagacacagcttgagaacagaagggcgtcgggggaacctgccgcaa       c.*1260

          .         .         .         .         .         .       g.370954
 ggagcagagacagcacagccccccgggcccagccgcctccctctcttgggacgcaacttc       c.*1320

          .         .         .         .         .         .       g.371014
 ttccccactcggatgggctttaaattattcccataggggccaatttcaaataataatttt       c.*1380

          .         .         .         .         .         .       g.371074
 tttccctgatggaatttaccttaatctgtatataacttgtaattttttctaattcatttc       c.*1440

          .         .         .         .         .         .       g.371134
 ttttcttattttatttcctccttaacagtatttttggcattagacattcttattgtgaag       c.*1500

          .         .         .         .         .         .       g.371194
 aaataatgttaatataagtatctggtgaaggaccaaaaccgtgtgataaggttgtgtgtc       c.*1560

          .         .         .         .         .         .       g.371254
 gtgtgggagtggggcgattttttatgtgccaaatacccccgtcccccccatgaatcctgc       c.*1620

          .         .         .         .         .         .       g.371314
 tgtccctgctgccgtttaccagacaatcatatgtttttgttaaatttgcgtttcagttac       c.*1680

          .         .         .         .         .         .       g.371374
 atttgcatttaagacaagtgttctatttatttcttgtattgtttggaagaaaaaatgatg       c.*1740

          .         .         .         .         .         .       g.371434
 atagagtcccaaaaagaagagaaaaaaaatgcccaagttgccctttaaaaaaaaagagcg       c.*1800

          .         .         .         .         .         .       g.371494
 taaatacaaacaggagtggtgcaagccgccttggtgtgggtttgtgtcacgtgtggacat       c.*1860

          .         .         .         .         .         .       g.371554
 ctcctcaggctttgtgtcacgcgtggacatctcctcaggctgtccccagcggtgacggga       c.*1920

          .         .         .         .         .         .       g.371614
 ggtgtcctggctgctccaggacaaaagacaatcgtctctgtgggtgccgggtggtccagg       c.*1980

          .         .         .         .         .         .       g.371674
 cttgcactgaagacgtgccacggggaggctcctgcaggaggctcaacccgacggatcaca       c.*2040

          .         .         .         .         .         .       g.371734
 gtgaaagggattcctcccacgccagatctgcacaacgaggcaagacaggacccacctgtg       c.*2100

          .         .         .         .         .         .       g.371794
 cgtgcgctggggccatggggtggccccgccggggcagcgggggagctgcctgcagaagag       c.*2160

          .         .         .         .         .         .       g.371854
 ccagctggcgtgtcgggaaggatccaggatctgcaaacacaactgctcaggccttctcac       c.*2220

          .         .         .         .         .         .       g.371914
 gcgtttccacaacatcccctgggtcagacccaccaggtaccccgtaggaatttccagttt       c.*2280

          .         .         .         .         .         .       g.371974
 cccttgatctagatgggattcttataaaaattcaacctcagacataaacaccccatttct       c.*2340

          .         .         .         .         .         .       g.372034
 gtaaacccaaattatatggtttcttctgcgaaagagtaaggtgtgtgctttttttttttt       c.*2400

          .         .         .         .         .         .       g.372094
 gcaatatgaccccgtctctctgaagtgggacattcggacggatggagccctcagcgtgtc       c.*2460

          .         .         .         .         .         .       g.372154
 ttttcagcaggagcagaaccgatgagagccgcccttaccgttggtctccggatcccccag       c.*2520

          .         .         .         .         .         .       g.372214
 tcccatcccgccgttttcggctgtcttcctaaccgtcctgtcttctcttggcgctctttc       c.*2580

          .         .         .         .         .         .       g.372274
 cttccacctttcccaagagtcctggttgcacgttttaagtcatatattttcgtccccctg       c.*2640

          .         .         .         .         .         .       g.372334
 aaaatgatggcaagcccagtttctcctgagcattcagacccccaggccccagcacttggc       c.*2700

          .         .         .         .         .         .       g.372394
 gttttcaggaggccctgttcttagagcccctgacaaaggcagcacttatttcctgggctg       c.*2760

          .         .         .         .         .         .       g.372454
 gtgcgccccaaaacacggccccgacacttagtgtggccccaggccccagcgagcctcgcc       c.*2820

          .         .         .         .         .         .       g.372514
 ctcccagttttgctctgcccagcagtgttggtgcccagagatgacaagggccagggagcc       c.*2880

          .         .         .         .         .         .       g.372574
 tggcccgggtgtgagaattcagagattctggcctccagctgtcaccacaccgtaacgggg       c.*2940

          .         .         .         .         .         .       g.372634
 ccatgtaactgtgcagcatggacagggatgcgacggggcagctggctgtgtccatggcca       c.*3000

          .         .         .         .         .         .       g.372694
 ggtggccagggtcagggctgcaagccaggggtccagggcccttccgttcagcccaaatgc       c.*3060

          .         .         .         .         .         .       g.372754
 tgccccaatgctaactccttggattgtcaacccccatcccccaaatggaaattccgaagg       c.*3120

          .         .         .         .         .         .       g.372814
 aggcctcctcgcacctgccctccgctgctcctcagaccccagcccccagcgagccgacgt       c.*3180

          .         .         .         .         .         .       g.372874
 ccccacccgttcctgctctcatccccaggttgggcacgtggggttcctcctctgtgggcc       c.*3240

          .         .         .         .         .         .       g.372934
 tggcagacccttcatgagtgggacccaagatatcactgacttcaacccagaggatcgagc       c.*3300

          .         .         .         .         .         .       g.372994
 ccctgcaccctgcctggggccctggggtgtggagcagtggctggggtgggcgtggtgtgg       c.*3360

          .         .         .         .         .         .       g.373054
 cctgagagactgcccagctggagaggccttcctttacaaggccacgcgtgcagctgtccc       c.*3420

          .         .         .         .         .         .       g.373114
 atccagaccccgactggccaagacctccacgtccccagagtccagccctggaaattccaa       c.*3480

          .         .         .         .         .         .       g.373174
 gggccctggcgtcctctgccttccccgcttccccatgagcgtctgcaaaacacttgcctg       c.*3540

          .         .         .         .         .         .       g.373234
 aatacatatcacgtattttagactcgaagcctcaaagcactggattgtggtcccctgccc       c.*3600

          .         .         .         .         .         .       g.373294
 cctctgtcccgtccccctgcccaagtgactgaaacctactgagctatattcactgtgctg       c.*3660

          .         .         .         .         .         .       g.373354
 tcctagggggagggagagcagagctcgcccctgcactgcagccttgtgggggagggcaag       c.*3720

          .         .         .         .         .         .       g.373414
 gctctcctcccagccagggacgccaggacatagctgctcctggtcagtggaggtcagccg       c.*3780

          .         .         .         .         .         .       g.373474
 ggtatcaaaagccatgaaactgtgtctctgtagcaatgagtgatactgtgacaaaaccat       c.*3840

          .         .         .         .         .         .       g.373534
 ccttgcattcttcctagaagagttcctctgctccttccattccatttttgtgtttgtttt       c.*3900

          .         .         .         .         .         .       g.373594
 gttcttttctgtcactgatccgtattaccacttttggaaaaaaataaataaataaataaa       c.*3960

          .         .         .         .         .         .       g.373654
 taaaaggcagcttgagtttccaaacgtgtgattcacttgtgaacaaaagtcattctaaca       c.*4020

          .         .         .         .         .         .       g.373714
 attgccttcagcgtcacgtgcattgccactgcgctttcggcacgagggatgctgagccct       c.*4080

          .         .         .         .         .         .       g.373774
 ggtgtcagagtcgtaatttaaagcgtgtgtgtatatggactttgtcccttaaggtcgata       c.*4140

          .         .         .         .         .         .       g.373834
 taaagaatcctcgcagaatcacagacctgtgccgcccgccaccttctgccattgttacat       c.*4200

          .         .         .         .         .         .       g.373894
 tacagatttggtttagttttgttttgttttgttttttcttttagaactgtatagtattga       c.*4260

          .         .         .         .         .         .       g.373954
 aaaagaaatcaaatgtaaatgtctggttttcatataatgtttaaaaagaccattgagaag       c.*4320

          .         .         .         .         .         .       g.374014
 gaggctggcgctcgccccatgtcccccttgattgtaaattgcttctgttctgtttataag       c.*4380

          .         .         .         .         .         .       g.374074
 taaactgtgcatgactcctgcttagcggtcattatcgtgtctgttggtgaaatttttatt       c.*4440

          .         .         .         .         .         .       g.374134
 aaaaggaaaattctgtagatgcacttattgaatatgtgattaggatctacgtctgagact       c.*4500

          .         .         .         .         .         .       g.374194
 aggagtcctgaactgctgacgcgaaagaggcgcagttcccaattaatacggaaatcgctg       c.*4560

          .         .         .         .         .         .       g.374254
 tgggagaagaatgaaataagacgtgaagtgtaggaaatcatgaaaagaacaattttgcaa       c.*4620

          .         .         .         .         .         .       g.374314
 attgcattctgatgcttgtgatgaacacaaatgtacttgtgtagagacatttccttaaga       c.*4680

          .         .         .         .         .         .       g.374374
 gaaagcctaggagaagccgatttggaggttaatgctgtagaataggactgtataccaaat       c.*4740

          .         .         .         .         .         .       g.374434
 gtaatctttccaatgctccaatgaatttatacatgagattgatatgcaataaatctgtgt       c.*4800

          .                                                         g.374444
 gcttttctaa                                                         c.*4810

 (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 PR domain containing 16 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.

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