SET domain containing 2 (SETD2) - coding DNA reference sequence

(used for variant description)

(last modified April 16, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_014159.6 in the SETD2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering SETD2 transcript NM_014159.6.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5053
        gcgtcgccctgctgcggggagggggctcgcgtcgccgtctccagccgctcccg       c.-1

          .         .         .         .         .         .       g.5113
 ATGAAGCAGCTGCAGCCGCAGCCGCCTCCGAAGATGGGGGATTTCTACGACCCGGAGCAC       c.60
 M  K  Q  L  Q  P  Q  P  P  P  K  M  G  D  F  Y  D  P  E  H         p.20

          .  | 02      .        | 03.         .         .         . g.44462
 CCGACCCCTGA | AGAAGAAGAAAATGAG | GCAAAGATTGAAAATGTGCAGAAAACAGGTTTC c.120
 P  T  P  E  |  E  E  E  N  E   | A  K  I  E  N  V  Q  K  T  G  F   p.40

          .         .         .         .         .         .       g.44522
 ATCAAAGGACCAATGTTCAAAGGTGTTGCTTCTAGTCGATTTTTGCCCAAAGGCACCAAA       c.180
 I  K  G  P  M  F  K  G  V  A  S  S  R  F  L  P  K  G  T  K         p.60

          .         .         .         .         .         .       g.44582
 ACAAAAGTTAATTTGGAAGAACAGGGACGACAGAAGGTGTCATTCAGCTTCAGCCTTACA       c.240
 T  K  V  N  L  E  E  Q  G  R  Q  K  V  S  F  S  F  S  L  T         p.80

          .         .         .         .         .         .       g.44642
 AAGAAAACTTTGCAGAATAGGTTTCTCACTGCACTTGGCAATGAAAAGCAAAGTGATACT       c.300
 K  K  T  L  Q  N  R  F  L  T  A  L  G  N  E  K  Q  S  D  T         p.100

          .         .         .         .         .         .       g.44702
 CCAAACCCTCCAGCTGTACCTCTTCAGGTAGACTCGACTCCTAAAATGAAAATGGAAATT       c.360
 P  N  P  P  A  V  P  L  Q  V  D  S  T  P  K  M  K  M  E  I         p.120

          .         .         .         .         .         .       g.44762
 GGTGATACCTTATCTACTGCAGAAGAATCTTCCCCACCAAAGTCAAGGGTGGAATTGGGC       c.420
 G  D  T  L  S  T  A  E  E  S  S  P  P  K  S  R  V  E  L  G         p.140

          .         .         .         .         .         .       g.44822
 AAAATTCATTTTAAGAAACATCTGCTTCATGTAACATCCAGGCCACTGCTGGCTACTACC       c.480
 K  I  H  F  K  K  H  L  L  H  V  T  S  R  P  L  L  A  T  T         p.160

          .         .         .         .         .         .       g.44882
 ACAGCAGTAGCATCTCCACCTACTCATGCAGCACCATTACCAGCAGTGATAGCAGAATCA       c.540
 T  A  V  A  S  P  P  T  H  A  A  P  L  P  A  V  I  A  E  S         p.180

          .         .         .         .         .         .       g.44942
 ACAACTGTAGACTCACCGCCCTCATCTCCGCCTCCACCGCCTCCACCTGCCCAAGCCACA       c.600
 T  T  V  D  S  P  P  S  S  P  P  P  P  P  P  P  A  Q  A  T         p.200

          .         .         .         .         .         .       g.45002
 ACACTCTCATCACCAGCACCAGTAACAGAGCCAGTGGCCTTGCCACATACACCAATAACA       c.660
 T  L  S  S  P  A  P  V  T  E  P  V  A  L  P  H  T  P  I  T         p.220

          .         .         .         .         .         .       g.45062
 GTTCTAATGGCAGCACCAGTACCCTTACCAGTAGATGTAGCAGTTAGATCTCTGAAAGAA       c.720
 V  L  M  A  A  P  V  P  L  P  V  D  V  A  V  R  S  L  K  E         p.240

          .         .         .         .         .         .       g.45122
 CCACCAATTATAATTGTACCAGAATCTTTAGAAGCAGATACTAAGCAGGACACTATATCT       c.780
 P  P  I  I  I  V  P  E  S  L  E  A  D  T  K  Q  D  T  I  S         p.260

          .         .         .         .         .         .       g.45182
 AATAGTTTAGAAGAACACGTAACTCAAATATTGAATGAGCAAGCAGATATTTCCTCAAAA       c.840
 N  S  L  E  E  H  V  T  Q  I  L  N  E  Q  A  D  I  S  S  K         p.280

          .         .         .         .         .         .       g.45242
 AAAGAAGATTCCCATATTGGGAAGGATGAAGAAATTCCAGATAGTTCTAAGATTAGTCTG       c.900
 K  E  D  S  H  I  G  K  D  E  E  I  P  D  S  S  K  I  S  L         p.300

          .         .         .         .         .         .       g.45302
 AGCTGTAAAAAAACAGGTTCTAAGAAGAAATCCTCACAATCTGAAGGCATCTTTCTTGGT       c.960
 S  C  K  K  T  G  S  K  K  K  S  S  Q  S  E  G  I  F  L  G         p.320

          .         .         .         .         .         .       g.45362
 TCAGAATCTGATGAAGATTCTGTACGGACTTCTTCAAGTCAAAGATCACATGATTTAAAA       c.1020
 S  E  S  D  E  D  S  V  R  T  S  S  S  Q  R  S  H  D  L  K         p.340

          .         .         .         .         .         .       g.45422
 TTTTCAGCAAGCATTGAAAAGGAAAGAGATTTTAAAAAGAGCTCAGCACCTTTAAAAAGT       c.1080
 F  S  A  S  I  E  K  E  R  D  F  K  K  S  S  A  P  L  K  S         p.360

          .         .         .         .         .         .       g.45482
 GAGGATCTAGGGAAACCTTCACGATCTAAAACAGACAGAGATGATAAATATTTTAGCTAT       c.1140
 E  D  L  G  K  P  S  R  S  K  T  D  R  D  D  K  Y  F  S  Y         p.380

          .         .         .         .         .         .       g.45542
 TCAAAACTTGAAAGAGATACTCGGTATGTATCTTCCCGATGTAGATCAGAAAGAGAGCGA       c.1200
 S  K  L  E  R  D  T  R  Y  V  S  S  R  C  R  S  E  R  E  R         p.400

          .         .         .         .         .         .       g.45602
 CGGCGGAGCAGATCTCACTCTAGGTCTGAGAGAGGCTCTAGAACTAATTTATCCTATTCC       c.1260
 R  R  S  R  S  H  S  R  S  E  R  G  S  R  T  N  L  S  Y  S         p.420

          .         .         .         .         .         .       g.45662
 AGGTCAGAACGATCTCATTATTATGACTCTGATCGTCGCTACCATAGGAGCTCCCCTTAT       c.1320
 R  S  E  R  S  H  Y  Y  D  S  D  R  R  Y  H  R  S  S  P  Y         p.440

          .         .         .         .         .         .       g.45722
 CGAGAGAGGACGCGCTATTCTCGGCCATACACAGATAACAGAGCACGAGAGAGTTCTGAC       c.1380
 R  E  R  T  R  Y  S  R  P  Y  T  D  N  R  A  R  E  S  S  D         p.460

          .         .         .         .         .         .       g.45782
 TCAGAAGAAGAGTATAAGAAGACATACTCAAGGCGTACCTCATCTCATTCCTCTTCTTAC       c.1440
 S  E  E  E  Y  K  K  T  Y  S  R  R  T  S  S  H  S  S  S  Y         p.480

          .         .         .         .         .         .       g.45842
 AGAGACCTAAGGACATCATCCTATTCTAAATCTGATCGGGACTGTAAAACTGAGACCTCT       c.1500
 R  D  L  R  T  S  S  Y  S  K  S  D  R  D  C  K  T  E  T  S         p.500

          .         .         .         .         .         .       g.45902
 TACTTAGAGATGGAAAGAAGAGGCAAGTATTCTTCAAAACTAGAAAGAGAATCTAAAAGG       c.1560
 Y  L  E  M  E  R  R  G  K  Y  S  S  K  L  E  R  E  S  K  R         p.520

          .         .         .         .         .         .       g.45962
 ACTTCAGAAAATGAAGCAATTAAAAGATGTTGTTCTCCCCCTAATGAACTGGGATTCCGA       c.1620
 T  S  E  N  E  A  I  K  R  C  C  S  P  P  N  E  L  G  F  R         p.540

          .         .         .         .         .         .       g.46022
 CGAGGGTCATCATATTCTAAGCATGACAGTAGTGCTTCCCGTTATAAATCTACCCTTTCA       c.1680
 R  G  S  S  Y  S  K  H  D  S  S  A  S  R  Y  K  S  T  L  S         p.560

          .         .         .         .         .         .       g.46082
 AAACCTATACCCAAGTCTGATAAATTTAAAAATTCTTTCTGTTGTACAGAATTAAATGAA       c.1740
 K  P  I  P  K  S  D  K  F  K  N  S  F  C  C  T  E  L  N  E         p.580

          .         .         .         .         .         .       g.46142
 GAAATCAAACAGTCTCATTCTTTTAGTTTACAGACACCTTGTTCAAAAGGTAGTGAATTA       c.1800
 E  I  K  Q  S  H  S  F  S  L  Q  T  P  C  S  K  G  S  E  L         p.600

          .         .         .         .         .         .       g.46202
 AGAATGATTAATAAAAATCCTGAAAGAGAAAAGGCTGGGTCTCCAGCTCCATCAAATCGA       c.1860
 R  M  I  N  K  N  P  E  R  E  K  A  G  S  P  A  P  S  N  R         p.620

          .         .         .         .         .         .       g.46262
 TTAAATGATTCACCTACTTTAAAAAAGCTAGATGAATTGCCTATTTTTAAGTCCGAATTT       c.1920
 L  N  D  S  P  T  L  K  K  L  D  E  L  P  I  F  K  S  E  F         p.640

          .         .         .         .         .         .       g.46322
 ATAACACATGATAGCCATGATAGTATTAAGGAATTAGACTCTTTATCTAAAGTGAAGAAT       c.1980
 I  T  H  D  S  H  D  S  I  K  E  L  D  S  L  S  K  V  K  N         p.660

          .         .         .         .         .         .       g.46382
 GATCAATTAAGAAGTTTTTGTCCCATAGAATTAAATATAAATGGATCTCCTGGGGCAGAA       c.2040
 D  Q  L  R  S  F  C  P  I  E  L  N  I  N  G  S  P  G  A  E         p.680

          .         .         .         .         .         .       g.46442
 TCTGATTTGGCAACATTTTGCACTTCTAAAACTGATGCTGTTTTAATGACTTCTGATGAT       c.2100
 S  D  L  A  T  F  C  T  S  K  T  D  A  V  L  M  T  S  D  D         p.700

          .         .         .         .         .         .       g.46502
 AGTGTGACTGGATCGGAATTATCCCCTTTGGTCAAAGCATGCATGCTTTCATCAAATGGA       c.2160
 S  V  T  G  S  E  L  S  P  L  V  K  A  C  M  L  S  S  N  G         p.720

          .         .         .         .         .         .       g.46562
 TTTCAGAATATTAGTAGGTGCAAAGAAAAAGACTTGGATGATACCTGCATGCTGCATAAG       c.2220
 F  Q  N  I  S  R  C  K  E  K  D  L  D  D  T  C  M  L  H  K         p.740

          .         .         .         .         .         .       g.46622
 AAGTCAGAAAGCCCATTTAGAGAAACAGAACCTCTGGTGTCACCACACCAAGATAAACTC       c.2280
 K  S  E  S  P  F  R  E  T  E  P  L  V  S  P  H  Q  D  K  L         p.760

          .         .         .         .         .         .       g.46682
 ATGTCTATGCCAGTTATGACTGTGGATTATTCCAAAACAGTAGTTAAAGAACCAGTTGAT       c.2340
 M  S  M  P  V  M  T  V  D  Y  S  K  T  V  V  K  E  P  V  D         p.780

          .         .         .         .         .         .       g.46742
 ACGAGGGTTTCTTGCTGCAAAACCAAAGATTCAGACATATACTGTACTTTGAACGATAGC       c.2400
 T  R  V  S  C  C  K  T  K  D  S  D  I  Y  C  T  L  N  D  S         p.800

          .         .         .         .         .         .       g.46802
 AACCCTTCTTTGTGTAACTCTGAAGCTGAAAATATTGAGCCTTCAGTTATGAAGATTTCT       c.2460
 N  P  S  L  C  N  S  E  A  E  N  I  E  P  S  V  M  K  I  S         p.820

          .         .         .         .         .         .       g.46862
 TCAAATAGCTTTATGAATGTGCATTTGGAATCAAAACCAGTTATATGTGATAGTAGAAAT       c.2520
 S  N  S  F  M  N  V  H  L  E  S  K  P  V  I  C  D  S  R  N         p.840

          .         .         .         .         .         .       g.46922
 TTGACAGATCACTCAAAATTTGCATGTGAAGAATATAAGCAGAGCATCGGTAGCACTAGT       c.2580
 L  T  D  H  S  K  F  A  C  E  E  Y  K  Q  S  I  G  S  T  S         p.860

          .         .         .         .         .         .       g.46982
 TCAGCTTCTGTTAATCATTTTGATGATTTATATCAACCTATTGGGAGTTCAGGTATTGCT       c.2640
 S  A  S  V  N  H  F  D  D  L  Y  Q  P  I  G  S  S  G  I  A         p.880

          .         .         .         .         .         .       g.47042
 TCATCTCTTCAGAGTCTTCCACCAGGAATAAAGGTGGACAGTCTAACTCTCTTGAAATGC       c.2700
 S  S  L  Q  S  L  P  P  G  I  K  V  D  S  L  T  L  L  K  C         p.900

          .         .         .         .         .         .       g.47102
 GGAGAGAACACATCTCCAGTTCTGGATGCAGTGCTAAAGAGTAAAAAAAGTTCAGAGTTT       c.2760
 G  E  N  T  S  P  V  L  D  A  V  L  K  S  K  K  S  S  E  F         p.920

          .         .         .         .         .         .       g.47162
 TTAAAGCATGCAGGGAAAGAAACAATAGTAGAAGTAGGTAGTGACCTTCCTGATTCAGGA       c.2820
 L  K  H  A  G  K  E  T  I  V  E  V  G  S  D  L  P  D  S  G         p.940

          .         .         .         .         .         .       g.47222
 AAGGGATTTGCTTCCAGGGAGAACAGGCGTAATAATGGGTTATCTGGGAAATGTTTGCAA       c.2880
 K  G  F  A  S  R  E  N  R  R  N  N  G  L  S  G  K  C  L  Q         p.960

          .         .         .         .         .         .       g.47282
 GAGGCTCAAGAAGAAGGGAATTCCATATTGCCTGAAAGAAGAGGAAGACCAGAAATCTCT       c.2940
 E  A  Q  E  E  G  N  S  I  L  P  E  R  R  G  R  P  E  I  S         p.980

          .         .         .         .         .         .       g.47342
 TTAGATGAAAGAGGAGAAGGAGGACATGTGCATACTTCTGATGACTCAGAAGTTGTATTT       c.3000
 L  D  E  R  G  E  G  G  H  V  H  T  S  D  D  S  E  V  V  F         p.1000

          .         .         .         .         .         .       g.47402
 TCTTCTTGTGATTTGAATTTAACCATGGAAGACAGTGATGGTGTAACTTATGCATTAAAG       c.3060
 S  S  C  D  L  N  L  T  M  E  D  S  D  G  V  T  Y  A  L  K         p.1020

          .         .         .         .         .         .       g.47462
 TGTGACAGTAGTGGTCATGCCCCAGAAATTGTGTCTACAGTTCATGAAGATTATTCTGGC       c.3120
 C  D  S  S  G  H  A  P  E  I  V  S  T  V  H  E  D  Y  S  G         p.1040

          .         .         .         .         .         .       g.47522
 TCTTCTGAAAGTTCAAATGATGAAAGTGATTCAGAAGATACAGATTCGGATGATAGCAGT       c.3180
 S  S  E  S  S  N  D  E  S  D  S  E  D  T  D  S  D  D  S  S         p.1060

          .         .         .         .         .         .       g.47582
 ATTCCAAGAAACCGTCTCCAGTCTGTTGTGGTTGTGCCAAAGAATTCTACTTTGCCCATG       c.3240
 I  P  R  N  R  L  Q  S  V  V  V  V  P  K  N  S  T  L  P  M         p.1080

          .         .         .         .         .         .       g.47642
 GAAGAAACAAGTCCTTGTTCTTCTCGGAGCAGTCAAAGTTATAGACACTATTCTGACCAT       c.3300
 E  E  T  S  P  C  S  S  R  S  S  Q  S  Y  R  H  Y  S  D  H         p.1100

          .         .         .         .         .         .       g.47702
 TGGGAAGATGAGAGATTGGAGTCAAGGAGACATTTGTATGAGGAAAAATTTGAAAGTATA       c.3360
 W  E  D  E  R  L  E  S  R  R  H  L  Y  E  E  K  F  E  S  I         p.1120

          .         .         .         .         .         .       g.47762
 GCAAGTAAAGCCTGTCCTCAAACTGATAAGTTTTTCCTTCATAAAGGAACAGAGAAGAAT       c.3420
 A  S  K  A  C  P  Q  T  D  K  F  F  L  H  K  G  T  E  K  N         p.1140

          .         .         .         .         .         .       g.47822
 CCGGAAATTTCTTTTACACAGTCCAGTAGAAAACAAATAGATAATCGCCTGCCTGAACTT       c.3480
 P  E  I  S  F  T  Q  S  S  R  K  Q  I  D  N  R  L  P  E  L         p.1160

          .         .         .         .         .         .       g.47882
 TCTCATCCTCAGAGTGATGGGGTTGATAGTACAAGTCATACAGATGTGAAATCTGACCCT       c.3540
 S  H  P  Q  S  D  G  V  D  S  T  S  H  T  D  V  K  S  D  P         p.1180

          .         .         .         .         .         .       g.47942
 CTGGGTCACCCAAATTCAGAGGAAACCGTGAAAGCCAAAATACCTTCTAGGCAGCAAGAA       c.3600
 L  G  H  P  N  S  E  E  T  V  K  A  K  I  P  S  R  Q  Q  E         p.1200

          .         .         .         .         .         .       g.48002
 GAGCTGCCAATTTATTCTTCTGATTTTGAAGATGTCCCAAATAAGTCTTGGCAACAGACC       c.3660
 E  L  P  I  Y  S  S  D  F  E  D  V  P  N  K  S  W  Q  Q  T         p.1220

          .         .         .         .         .         .       g.48062
 ACTTTCCAAAACAGGCCAGATAGTAGACTGGGAAAAACAGAATTGAGTTTTTCTTCCTCT       c.3720
 T  F  Q  N  R  P  D  S  R  L  G  K  T  E  L  S  F  S  S  S         p.1240

          .         .         .         .         .         .       g.48122
 TGTGAGATACCACATGTGGATGGCTTGCACTCATCAGAAGAGCTCAGAAACTTAGGTTGG       c.3780
 C  E  I  P  H  V  D  G  L  H  S  S  E  E  L  R  N  L  G  W         p.1260

          .         .         .         .         .         .       g.48182
 GACTTCTCTCAAGAAAAGCCTTCTACCACGTATCAGCAACCTGACAGTAGCTATGGAGCT       c.3840
 D  F  S  Q  E  K  P  S  T  T  Y  Q  Q  P  D  S  S  Y  G  A         p.1280

          .         .         .         .         .         .       g.48242
 TGTGGTGGACACAAGTATCAGCAAAATGCAGAACAGTATGGTGGGACACGTGATTACTGG       c.3900
 C  G  G  H  K  Y  Q  Q  N  A  E  Q  Y  G  G  T  R  D  Y  W         p.1300

          .         .         .         .         .         .       g.48302
 CAAGGCAATGGTTACTGGGATCCAAGATCAGGTAGACCTCCTGGAACTGGGGTTGTGTAT       c.3960
 Q  G  N  G  Y  W  D  P  R  S  G  R  P  P  G  T  G  V  V  Y         p.1320

          .         .         .         .         .         .       g.48362
 GATCGAACTCAAGGACAAGTACCAGATTCCCTAACAGATGATCGTGAAGAAGAGGAGAAT       c.4020
 D  R  T  Q  G  Q  V  P  D  S  L  T  D  D  R  E  E  E  E  N         p.1340

          .         .         .         .         .         .       g.48422
 TGGGATCAACAGGATGGATCCCATTTTTCAGACCAGTCCGATAAATTTCTTCTATCCCTT       c.4080
 W  D  Q  Q  D  G  S  H  F  S  D  Q  S  D  K  F  L  L  S  L         p.1360

          .         .         .         .         .         .       g.48482
 CAGAAAGACAAGGGGTCAGTGCAAGCACCTGAAATAAGCAGCAATTCCATTAAGGACACT       c.4140
 Q  K  D  K  G  S  V  Q  A  P  E  I  S  S  N  S  I  K  D  T         p.1380

          .         .         .         .         .         .       g.48542
 TTAGCTGTGAATGAAAAGAAAGATTTTTCAAAAAACTTAGAAAAAAATGATATCAAAGAT       c.4200
 L  A  V  N  E  K  K  D  F  S  K  N  L  E  K  N  D  I  K  D         p.1400

          .         .         .         .         .         .       g.48602
 AGAGGGCCTCTTAAAAAAAGGAGGCAGGAAATAGAGAGTGATTCTGAAAGTGATGGTGAG       c.4260
 R  G  P  L  K  K  R  R  Q  E  I  E  S  D  S  E  S  D  G  E         p.1420

          .         .         .         .         .         .       g.48662
 CTTCAGGACAGAAAGAAAGTTAGAGTGGAGGTAGAGCAGGGAGAGACATCAGTGCCCCCA       c.4320
 L  Q  D  R  K  K  V  R  V  E  V  E  Q  G  E  T  S  V  P  P         p.1440

          .         .         .         .         .         .       g.48722
 GGTTCAGCACTGGTTGGGCCCTCCTGTGTCATGGATGACTTCAGGGACCCACAGCGATGG       c.4380
 G  S  A  L  V  G  P  S  C  V  M  D  D  F  R  D  P  Q  R  W         p.1460

          .         .         .         .         .         .       g.48782
 AAGGAATGTGCCAAGCAAGGGAAAATGCCATGTTACTTTGATCTTATTGAAGAAAATGTT       c.4440
 K  E  C  A  K  Q  G  K  M  P  C  Y  F  D  L  I  E  E  N  V         p.1480

          .     | 04   .         .         .         .         .    g.52269
 TATTTAACAGAAAG | AAAGAAGAATAAATCTCATCGAGATATTAAGCGAATGCAGTGTGAG    c.4500
 Y  L  T  E  R  |  K  K  N  K  S  H  R  D  I  K  R  M  Q  C  E      p.1500

          .         .         .         .         .         .       g.52329
 TGTACACCTCTTTCTAAAGATGAAAGAGCTCAAGGTGAAATAGCATGTGGGGAAGATTGT       c.4560
 C  T  P  L  S  K  D  E  R  A  Q  G  E  I  A  C  G  E  D  C         p.1520

          .         .       | 05 .         .         .         .    g.55007
 CTTAATCGTCTTCTCATGATTGAATG | TTCTTCTCGGTGTCCAAATGGGGATTATTGTTCC    c.4620
 L  N  R  L  L  M  I  E  C  |  S  S  R  C  P  N  G  D  Y  C  S      p.1540

          .         .         .         .         .         .       g.55067
 AATAGACGGTTTCAGAGAAAACAGCATGCAGATGTGGAAGTCATACTCACAGAAAAGAAA       c.4680
 N  R  R  F  Q  R  K  Q  H  A  D  V  E  V  I  L  T  E  K  K         p.1560

          .         .         .      | 06  .         .         .    g.62882
 GGCTGGGGCTTGAGAGCTGCCAAAGACCTTCCTTC | GAACACCTTTGTCCTAGAATATTGT    c.4740
 G  W  G  L  R  A  A  K  D  L  P  S  |  N  T  F  V  L  E  Y  C      p.1580

          .         .         .         .         .         .       g.62942
 GGAGAGGTACTCGATCATAAAGAGTTTAAAGCTCGAGTGAAGGAGTATGCACGAAACAAA       c.4800
 G  E  V  L  D  H  K  E  F  K  A  R  V  K  E  Y  A  R  N  K         p.1600

          .         .         .          | 07        .         .    g.65575
 AACATCCATTACTATTTCATGGCCCTGAAGAATGATGAG | ATAATAGATGCCACTCAAAAA    c.4860
 N  I  H  Y  Y  F  M  A  L  K  N  D  E   | I  I  D  A  T  Q  K      p.1620

          .         .         .         .         .        | 08.    g.67425
 GGAAATTGCTCTCGTTTCATGAATCACAGCTGTGAACCAAATTGTGAAACCCAAAAA | TGG    c.4920
 G  N  C  S  R  F  M  N  H  S  C  E  P  N  C  E  T  Q  K   | W      p.1640

          .         .         .         .         .         .       g.67485
 ACTGTGAACGGACAACTGAGGGTTGGGTTTTTTACCACCAAACTGGTTCCTTCAGGCTCA       c.4980
 T  V  N  G  Q  L  R  V  G  F  F  T  T  K  L  V  P  S  G  S         p.1660

          .         .         .      | 09  .         .         .    g.70921
 GAGTTAACGTTTGACTATCAGTTCCAGAGATATGG | AAAAGAAGCCCAGAAATGTTTCTGC    c.5040
 E  L  T  F  D  Y  Q  F  Q  R  Y  G  |  K  E  A  Q  K  C  F  C      p.1680

          .         .         .         .         .         .       g.70981
 GGATCAGCCAATTGCCGGGGTTACCTGGGAGGAGAAAACAGAGTCAGCATCAGAGCAGCA       c.5100
 G  S  A  N  C  R  G  Y  L  G  G  E  N  R  V  S  I  R  A  A         p.1700

          .         .         .         .   | 10     .         .    g.80748
 GGAGGGAAAATGAAGAAGGAACGATCTCGTAAGAAGGATTCA | GTGGATGGAGAGCTAGAA    c.5160
 G  G  K  M  K  K  E  R  S  R  K  K  D  S   | V  D  G  E  L  E      p.1720

          .         .         .         .         .         .       g.80808
 GCTCTGATGGAAAATGGTGAGGGTCTCTCTGATAAAAACCAGGTGCTCAGCTTATCCCGG       c.5220
 A  L  M  E  N  G  E  G  L  S  D  K  N  Q  V  L  S  L  S  R         p.1740

          .         .         .         .         .        | 11.    g.82666
 CTAATGGTTAGAATTGAAACTTTGGAGCAGAAACTTACCTGTCTGGAACTCATACAG | AAC    c.5280
 L  M  V  R  I  E  T  L  E  Q  K  L  T  C  L  E  L  I  Q   | N      p.1760

          .         .         .         .         .         .       g.82726
 ACACACTCACAGTCCTGCCTGAAGTCCTTTCTGGAACGTCATGGGCTGTCTTTGTTGTGG       c.5340
 T  H  S  Q  S  C  L  K  S  F  L  E  R  H  G  L  S  L  L  W         p.1780

          .         .         .         .         .        | 12.    g.84598
 ATCTGGATGGCAGAGCTAGGTGACGGCCGGGAAAGTAACCAGAAGCTTCAGGAAGAG | ATT    c.5400
 I  W  M  A  E  L  G  D  G  R  E  S  N  Q  K  L  Q  E  E   | I      p.1800

          .         .         .         .         .         .       g.84658
 ATAAAGACTTTGGAACACTTGCCCATTCCTACTAAAAATATGTTGGAGGAAAGCAAAGTA       c.5460
 I  K  T  L  E  H  L  P  I  P  T  K  N  M  L  E  E  S  K  V         p.1820

          .         .         .         .         .         .       g.84718
 CTTCCAATTATTCAACGCTGGTCTCAGACTAAGACTGCTGTCCCTCCGTTGAGTGAAGGA       c.5520
 L  P  I  I  Q  R  W  S  Q  T  K  T  A  V  P  P  L  S  E  G         p.1840

          .         .         .         .         .         .       g.84778
 GATGGGTATTCTAGTGAGAATACATCGCGTGCTCATACACCACTCAACACACCTGATCCT       c.5580
 D  G  Y  S  S  E  N  T  S  R  A  H  T  P  L  N  T  P  D  P         p.1860

          .         .         .         .         .         .       g.84838
 TCCACCAAGCTGAGCACAGAAGCTGACACAGACACTCCCAAGAAACTAATGTTTCGCAGA       c.5640
 S  T  K  L  S  T  E  A  D  T  D  T  P  K  K  L  M  F  R  R         p.1880

          .         .         .         .         .         .       g.84898
 CTGAAAATTATAAGTGAAAATAGCATGGACAGTGCAATCTCTGATGCAACCAGTGAGCTA       c.5700
 L  K  I  I  S  E  N  S  M  D  S  A  I  S  D  A  T  S  E  L         p.1900

          .         .         .         .         .         .       g.84958
 GAAGGCAAGGATGGCAAAGAGGATCTTGATCAATTAGAAAATGTCCCTGTAGAGGAAGAG       c.5760
 E  G  K  D  G  K  E  D  L  D  Q  L  E  N  V  P  V  E  E  E         p.1920

          .         .         .         .         .         .       g.85018
 GAAGAATTGCAGTCACAACAGCTACTCCCACAACAGCTGCCTGAATGCAAAGTTGATAGT       c.5820
 E  E  L  Q  S  Q  Q  L  L  P  Q  Q  L  P  E  C  K  V  D  S         p.1940

          .         .         .         .         .         .       g.85078
 GAAACCAACATAGAAGCTAGTAAGCTACCTACATCTGAACCAGAAGCTGACGCTGAAATA       c.5880
 E  T  N  I  E  A  S  K  L  P  T  S  E  P  E  A  D  A  E  I         p.1960

          .         .         .         .         .         .       g.85138
 GAGCCCAAAGAGAGCAACGGCACAAAACTAGAAGAACCTATTAATGAAGAAACACCATCC       c.5940
 E  P  K  E  S  N  G  T  K  L  E  E  P  I  N  E  E  T  P  S         p.1980

          .         .         .         .         .         .       g.85198
 CAAGATGAAGAGGAGGGTGTGTCTGATGTGGAGAGTGAAAGGAGCCAAGAACAGCCAGAT       c.6000
 Q  D  E  E  E  G  V  S  D  V  E  S  E  R  S  Q  E  Q  P  D         p.2000

          .         .         .         .         .         .       g.85258
 AAAACAGTGGATATAAGTGATTTGGCCACCAAACTCCTGGACAGTTGGAAAGACCTAAAG       c.6060
 K  T  V  D  I  S  D  L  A  T  K  L  L  D  S  W  K  D  L  K         p.2020

  | 13       .         .         .         .          | 14        . g.106642
  | GAGGTATATCGAATTCCAAAGAAAAGTCAAACTGAAAAGGAAAACACAA | CAACTGAACGA c.6120
  | E  V  Y  R  I  P  K  K  S  Q  T  E  K  E  N  T  T |   T  E  R   p.2040

          .         .         .         .         .         .       g.106702
 GGAAGGGATGCTGTTGGCTTCAGAGATCAAACACCTGCCCCGAAGACTCCTAATAGGTCA       c.6180
 G  R  D  A  V  G  F  R  D  Q  T  P  A  P  K  T  P  N  R  S         p.2060

          .         .         .         .         .         .       g.106762
 AGAGAGAGAGACCCAGACAAGCAAACTCAAAATAAAGAGAAAAGGAAACGAAGAAGCTCC       c.6240
 R  E  R  D  P  D  K  Q  T  Q  N  K  E  K  R  K  R  R  S  S         p.2080

          .         .         .         .         .    | 15    .    g.111494
 CTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAAAAGGCCAGATGACAG | ATATGAT    c.6300
 L  S  P  P  S  S  A  Y  E  R  G  T  K  R  P  D  D  R  |  Y  D      p.2100

          .         .         .         .         .         .       g.111554
 ACACCAACTTCTAAAAAGAAAGTACGAATTAAAGACCGCAATAAACTTTCTACAGAGGAA       c.6360
 T  P  T  S  K  K  K  V  R  I  K  D  R  N  K  L  S  T  E  E         p.2120

          .         .         .         .         .         .       g.111614
 CGCCGGAAGTTGTTTGAGCAAGAGGTGGCTCAACGGGAGGCTCAGAAACAACAGCAACAG       c.6420
 R  R  K  L  F  E  Q  E  V  A  Q  R  E  A  Q  K  Q  Q  Q  Q         p.2140

          .         .         .         .         .         .       g.111674
 ATGCAGAACCTGGGAATGACATCACCACTGCCCTATGACTCTCTTGGTTATAATGCCCCG       c.6480
 M  Q  N  L  G  M  T  S  P  L  P  Y  D  S  L  G  Y  N  A  P         p.2160

          .         .         .         .         .         .       g.111734
 CATCATCCCTTTGCTGGTTACCCACCAGGTTATCCCATGCAGGCCTATGTGGATCCCAGC       c.6540
 H  H  P  F  A  G  Y  P  P  G  Y  P  M  Q  A  Y  V  D  P  S         p.2180

          .         .         .         .         .         .       g.111794
 AACCCTAATGCTGGAAAGGTGCTCCTGCCCACACCCAGCATGGACCCAGTGTGTTCTCCT       c.6600
 N  P  N  A  G  K  V  L  L  P  T  P  S  M  D  P  V  C  S  P         p.2200

          .         .         .         .         .         .       g.111854
 GCTCCTTATGATCATGCTCAGCCCTTGGTGGGACATTCTACAGAACCCCTTTCTGCCCCT       c.6660
 A  P  Y  D  H  A  Q  P  L  V  G  H  S  T  E  P  L  S  A  P         p.2220

          .         .         .         .         .         .       g.111914
 CCACCAGTACCAGTGGTGCCACATGTGGCAGCTCCTGTGGAAGTTTCCAGTTCCCAGTAT       c.6720
 P  P  V  P  V  V  P  H  V  A  A  P  V  E  V  S  S  S  Q  Y         p.2240

          .         .         .         .         .         .       g.111974
 GTGGCCCAGAGTGATGGTGTAGTACACCAAGACTCCAGCGTTGCTGTCTTGCCAGTGCCG       c.6780
 V  A  Q  S  D  G  V  V  H  Q  D  S  S  V  A  V  L  P  V  P         p.2260

          .         .         .         .         .         .       g.112034
 GCCCCCGGCCCAGTTCAGGGACAGAATTATAGTGTTTGGGATTCAAACCAACAGTCTGTC       c.6840
 A  P  G  P  V  Q  G  Q  N  Y  S  V  W  D  S  N  Q  Q  S  V         p.2280

          .         .         .         .         .         .       g.112094
 AGTGTACAGCAGCAGTACTCTCCTGCACAGTCTCAAGCAACCATATATTATCAAGGACAG       c.6900
 S  V  Q  Q  Q  Y  S  P  A  Q  S  Q  A  T  I  Y  Y  Q  G  Q         p.2300

          .         .         .         .         .         .       g.112154
 ACATGTCCAACAGTCTATGGTGTGACATCACCTTATTCACAGACAACTCCACCAATTGTA       c.6960
 T  C  P  T  V  Y  G  V  T  S  P  Y  S  Q  T  T  P  P  I  V         p.2320

     | 16    .         .         .         .         .         .    g.122413
 CAG | AGTTATGCCCAGCCAAGTCTTCAGTATATCCAGGGGCAACAGATTTTCACAGCTCAT    c.7020
 Q   | S  Y  A  Q  P  S  L  Q  Y  I  Q  G  Q  Q  I  F  T  A  H      p.2340

          .         .         .         .         .         .       g.122473
 CCACAAGGAGTGGTGGTACAGCCAGCCGCAGCAGTGACTACAATAGTTGCACCAGGGCAG       c.7080
 P  Q  G  V  V  V  Q  P  A  A  A  V  T  T  I  V  A  P  G  Q         p.2360

          .         | 17         .         .         .         .    g.126319
 CCTCAGCCCTTGCAGCCA | TCTGAAATGGTTGTGACAAATAATCTCTTGGATCTGCCGCCC    c.7140
 P  Q  P  L  Q  P   | S  E  M  V  V  T  N  N  L  L  D  L  P  P      p.2380

          .         .         .         .         .         .       g.126379
 CCCTCTCCTCCCAAACCAAAAACCATTGTCTTACCTCCCAACTGGAAGACAGCTCGAGAT       c.7200
 P  S  P  P  K  P  K  T  I  V  L  P  P  N  W  K  T  A  R  D         p.2400

          .         .         .         | 18         .         .    g.131222
 CCAGAAGGGAAGATTTATTACTACCATGTGATCACAAG | GCAGACTCAGTGGGATCCTCCT    c.7260
 P  E  G  K  I  Y  Y  Y  H  V  I  T  R  |  Q  T  Q  W  D  P  P      p.2420

          .         .         .         .         .         .       g.131282
 ACTTGGGAAAGCCCAGGAGATGATGCCAGCCTTGAGCATGAAGCTGAGATGGACCTGGGA       c.7320
 T  W  E  S  P  G  D  D  A  S  L  E  H  E  A  E  M  D  L  G         p.2440

          .         .         . | 19       .         .         .    g.149167
 ACTCCAACATATGATGAAAACCCCATGAAG | GCCTCGAAAAAGCCCAAGACAGCAGAAGCA    c.7380
 T  P  T  Y  D  E  N  P  M  K   | A  S  K  K  P  K  T  A  E  A      p.2460

          .         .         .         .         .  | 20      .    g.151247
 GACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAG | ATGTCCCAG    c.7440
 D  T  S  S  E  L  A  K  K  S  K  E  V  F  R  K  E   | M  S  Q      p.2480

          .         .         .         .         .         .       g.151307
 TTCATCGTCCAGTGCCTGAACCCTTACCGGAAACCTGACTGCAAAGTGGGAAGAATTACC       c.7500
 F  I  V  Q  C  L  N  P  Y  R  K  P  D  C  K  V  G  R  I  T         p.2500

          .         .         .    | 21    .         .         .    g.151750
 ACAACTGAAGACTTTAAACATCTGGCTCGCAAG | CTGACTCACGGTGTTATGAATAAGGAG    c.7560
 T  T  E  D  F  K  H  L  A  R  K   | L  T  H  G  V  M  N  K  E      p.2520

          .         .         .         .         .         .       g.151810
 CTGAAGTACTGTAAGAATCCTGAGGACCTGGAGTGCAATGAGAATGTGAAACACAAAACC       c.7620
 L  K  Y  C  K  N  P  E  D  L  E  C  N  E  N  V  K  H  K  T         p.2540

          .         .         .         .         .         .       g.151870
 AAGGAGTACATTAAGAAGTACATGCAGAAGTTTGGGGCTGTTTACAAACCCAAAGAGGAC       c.7680
 K  E  Y  I  K  K  Y  M  Q  K  F  G  A  V  Y  K  P  K  E  D         p.2560

          .                                                         g.151885
 ACTGAATTAGAGTGA                                                    c.7695
 T  E  L  E  X                                                      p.2564

          .         .         .         .         .         .       g.151945
 ctgttgggccagggtgggaggatgggtggtcaggtaagacagactctagggagaggaaat       c.*60

          .         .         .         .         .         .       g.152005
 cctgtgggcctttctgtcccacccctgtcagcactgtgctactgatgatacatcaccctg       c.*120

          .         .         .         .         .         .       g.152065
 gggaattcaaccctgcagatgtcaactgaaggccacaaaaatgaactccatctacaagtg       c.*180

          .         .         .         .         .         .       g.152125
 attacctagttgtgagctgttggcatgtggttagaagccatcagaggtgcaagggcttag       c.*240

          .         .         .         .         .         .       g.152185
 aaaagaccctggccagacctgactccactcttaaacctgggtcttctccttggcggtgct       c.*300

          .         .         .         .         .         .       g.152245
 gtcagcgcacagacccatgcgcatccccacccacaaccctttaccctgatgatctgtatt       c.*360

          .         .         .         .         .         .       g.152305
 atattttaatgtatatgtgaatatattgaaaataatttgttttttcctggtttttgtttg       c.*420

          .         .         .         .         .         .       g.152365
 gttttcgttttgcttttagcctctacatgctaggatcacaggaagactttgtaaggacag       c.*480

          .         .         .         .         .         .       g.152425
 tttaagttctcctgcaaggtttaatttgttatcatgtaaatattctaaagcaggctgcct       c.*540

          .         .         .         .         .         .       g.152485
 tgtggttttggccagccttgtgctatgttgataagattgatttactgcttaaaatcactt       c.*600

          .         .         .         .         .         .       g.152545
 tactttatccaatttttactgaactttttatgtaaaaaaataaaatcaattaaagaactt       c.*660

          .         .                                               g.152570
 ggcatgtgtgttccctaaaagttaa                                          c.*685

 (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 SET domain containing 2 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 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 09
©2004-2014 Leiden University Medical Center