low density lipoprotein receptor-related protein 6 (LRP6) - coding DNA reference sequence

(used for variant description)

(last modified August 13, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_002336.2 in the LRP6 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016168.1, covering LRP6 transcript NM_002336.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5022
                                       gtgcccctttctttcttctctc       c.-121

 .         .         .         .         .         .                g.5082
 gctgggaagctgggaagtatgagcgtgcagccctgccgctgcggcggccgccccggctcc       c.-61

 .         .         .         .         .         .                g.5142
 tcgcctcccccacttctggccacccctcgccggtgagagaagagaacgcgagaagggaag       c.-1

          .         .         .         .         .      | 02  .    g.27227
 ATGGGGGCCGTCCTGAGGAGCCTCCTGGCCTGCAGCTTCTGTGTGCTCCTGAGAG | CGGCC    c.60
 M  G  A  V  L  R  S  L  L  A  C  S  F  C  V  L  L  R  A |   A      p.20

          .         .         .         .         .         .       g.27287
 CCTTTGTTGCTTTATGCAAACAGACGGGACTTGCGATTGGTTGATGCTACAAATGGCAAA       c.120
 P  L  L  L  Y  A  N  R  R  D  L  R  L  V  D  A  T  N  G  K         p.40

          .         .         .         .         .         .       g.27347
 GAGAATGCTACGATTGTAGTTGGAGGCTTGGAGGATGCAGCTGCGGTGGACTTTGTGTTT       c.180
 E  N  A  T  I  V  V  G  G  L  E  D  A  A  A  V  D  F  V  F         p.60

          .         .         .         .         .         .       g.27407
 AGTCATGGCTTGATATACTGGAGTGATGTCAGCGAAGAAGCCATTAAACGAACAGAATTT       c.240
 S  H  G  L  I  Y  W  S  D  V  S  E  E  A  I  K  R  T  E  F         p.80

          .         .         .         .         .         .       g.27467
 AACAAAACTGAGAGTGTGCAGAATGTTGTTGTTTCTGGATTATTGTCCCCCGATGGGCTG       c.300
 N  K  T  E  S  V  Q  N  V  V  V  S  G  L  L  S  P  D  G  L         p.100

          .         .         .         .         .         .       g.27527
 GCATGTGATTGGCTTGGAGAAAAATTGTACTGGACAGATTCTGAAACTAATCGGATTGAA       c.360
 A  C  D  W  L  G  E  K  L  Y  W  T  D  S  E  T  N  R  I  E         p.120

          .         .         .         .         .         .       g.27587
 GTTTCTAATTTAGATGGATCTTTACGAAAAGTTTTATTTTGGCAAGAGTTGGATCAACCC       c.420
 V  S  N  L  D  G  S  L  R  K  V  L  F  W  Q  E  L  D  Q  P         p.140

          .         .          | 03        .         .         .    g.68508
 AGAGCTATTGCCTTAGATCCTTCAAGTGG | GTTCATGTACTGGACAGACTGGGGAGAAGTG    c.480
 R  A  I  A  L  D  P  S  S  G  |  F  M  Y  W  T  D  W  G  E  V      p.160

          .         .         .         .         .         .       g.68568
 CCAAAGATAGAACGTGCTGGAATGGATGGTTCAAGTCGCTTCATTATAATAAACAGTGAA       c.540
 P  K  I  E  R  A  G  M  D  G  S  S  R  F  I  I  I  N  S  E         p.180

          .         .         .         .         .         .       g.68628
 ATTTACTGGCCAAATGGACTGACTTTGGATTATGAAGAACAAAAGCTTTATTGGGCAGAT       c.600
 I  Y  W  P  N  G  L  T  L  D  Y  E  E  Q  K  L  Y  W  A  D         p.200

          .         .         .         .        | 04.         .    g.84771
 GCAAAACTTAATTTCATCCACAAATCAAATCTGGATGGAACAAATCG | GCAGGCAGTGGTT    c.660
 A  K  L  N  F  I  H  K  S  N  L  D  G  T  N  R  |  Q  A  V  V      p.220

          .         .         .         .         .         .       g.84831
 AAAGGTTCCCTTCCACATCCTTTTGCCTTGACGTTATTTGAGGACATATTGTACTGGACT       c.720
 K  G  S  L  P  H  P  F  A  L  T  L  F  E  D  I  L  Y  W  T         p.240

          .         .         .         .         .         .       g.84891
 GACTGGAGCACACACTCCATTTTGGCTTGCAACAAGTATACTGGTGAGGGTCTGCGTGAA       c.780
 D  W  S  T  H  S  I  L  A  C  N  K  Y  T  G  E  G  L  R  E         p.260

          .         .         .         .         .         .       g.84951
 ATCCATTCTGACATCTTCTCTCCCATGGATATACATGCCTTCAGCCAACAGAGGCAGCCA       c.840
 I  H  S  D  I  F  S  P  M  D  I  H  A  F  S  Q  Q  R  Q  P         p.280

      | 05   .         .         .         .         .         .    g.87822
 AATG | CCACAAATCCATGTGGAATTGACAATGGGGGTTGTTCCCATTTGTGTTTGATGTCT    c.900
 N  A |   T  N  P  C  G  I  D  N  G  G  C  S  H  L  C  L  M  S      p.300

          .         .         .         .         .         .       g.87882
 CCAGTCAAGCCTTTTTATCAGTGTGCTTGCCCCACTGGGGTCAAACTCCTGGAGAATGGA       c.960
 P  V  K  P  F  Y  Q  C  A  C  P  T  G  V  K  L  L  E  N  G         p.320

          .       | 06 .         .         .         .         .    g.90482
 AAAACCTGCAAAGATG | GTGCCACAGAATTATTGCTTTTAGCTCGAAGGACAGACTTGAGA    c.1020
 K  T  C  K  D  G |   A  T  E  L  L  L  L  A  R  R  T  D  L  R      p.340

          .         .         .         .         .         .       g.90542
 CGCATTTCTTTGGATACACCAGATTTTACAGACATTGTTCTGCAGTTAGAAGACATCCGT       c.1080
 R  I  S  L  D  T  P  D  F  T  D  I  V  L  Q  L  E  D  I  R         p.360

          .         .         .         .         .         .       g.90602
 CATGCCATTGCCATAGATTACGATCCTGTGGAAGGCTACATCTACTGGACTGATGATGAA       c.1140
 H  A  I  A  I  D  Y  D  P  V  E  G  Y  I  Y  W  T  D  D  E         p.380

          .         .         .         .         .         .       g.90662
 GTGAGGGCCATACGCCGTTCATTTATAGATGGATCTGGCAGTCAGTTTGTGGTCACTGCT       c.1200
 V  R  A  I  R  R  S  F  I  D  G  S  G  S  Q  F  V  V  T  A         p.400

          .         .         .         .         .         .       g.90722
 CAAATTGCCCATCCTGATGGTATTGCTGTGGACTGGGTTGCACGAAATCTTTATTGGACA       c.1260
 Q  I  A  H  P  D  G  I  A  V  D  W  V  A  R  N  L  Y  W  T         p.420

          .         .         .         .         .         .       g.90782
 GACACTGGCACTGATCGAATAGAAGTGACAAGGCTCAATGGGACCATGAGGAAGATCTTG       c.1320
 D  T  G  T  D  R  I  E  V  T  R  L  N  G  T  M  R  K  I  L         p.440

          .         .         .         .         .    | 07    .    g.91903
 ATTTCAGAGGACTTAGAGGAACCCCGGGCTATTGTGTTAGATCCCATGGTTGG | GTACATG    c.1380
 I  S  E  D  L  E  E  P  R  A  I  V  L  D  P  M  V  G  |  Y  M      p.460

          .         .         .         .         .         .       g.91963
 TATTGGACTGACTGGGGAGAAATTCCGAAAATTGAGCGAGCAGCTCTGGATGGTTCTGAC       c.1440
 Y  W  T  D  W  G  E  I  P  K  I  E  R  A  A  L  D  G  S  D         p.480

          .         .         .         .         .         .       g.92023
 CGTGTAGTATTGGTTAACACTTCTCTTGGTTGGCCAAATGGTTTAGCCTTGGATTATGAT       c.1500
 R  V  V  L  V  N  T  S  L  G  W  P  N  G  L  A  L  D  Y  D         p.500

          .         .         .         .      | 08  .         .    g.106597
 GAAGGCAAAATATACTGGGGAGATGCCAAAACAGACAAGATTGAG | GTTATGAATACTGAT    c.1560
 E  G  K  I  Y  W  G  D  A  K  T  D  K  I  E   | V  M  N  T  D      p.520

          .         .         .         .         .         .       g.106657
 GGCACTGGGAGACGAGTACTAGTGGAAGACAAAATTCCTCACATATTTGGATTTACTTTG       c.1620
 G  T  G  R  R  V  L  V  E  D  K  I  P  H  I  F  G  F  T  L         p.540

          .         .         .         .         .         .       g.106717
 TTGGGTGACTATGTTTACTGGACTGACTGGCAGAGGCGTAGCATTGAAAGAGTTCATAAA       c.1680
 L  G  D  Y  V  Y  W  T  D  W  Q  R  R  S  I  E  R  V  H  K         p.560

          .         .         .         .         .         .       g.106777
 CGAAGTGCAGAGAGGGAAGTGATCATAGATCAGCTGCCTGACCTCATGGGCCTAAAGGCT       c.1740
 R  S  A  E  R  E  V  I  I  D  Q  L  P  D  L  M  G  L  K  A         p.580

          .         .   | 09     .         .         .         .    g.107353
 ACAAATGTTCATCGAGTGATTG | GTTCCAACCCCTGTGCTGAGGAAAACGGGGGATGTAGC    c.1800
 T  N  V  H  R  V  I  G |   S  N  P  C  A  E  E  N  G  G  C  S      p.600

          .         .         .         .         .         .       g.107413
 CATCTCTGCCTCTATAGACCTCAGGGCCTTCGCTGTGCTTGCCCTATTGGCTTTGAACTC       c.1860
 H  L  C  L  Y  R  P  Q  G  L  R  C  A  C  P  I  G  F  E  L         p.620

          .         .         .         .         .         .       g.107473
 ATCAGTGACATGAAGACCTGCATTGTCCCAGAGGCTTTCCTTTTGTTTTCACGGAGAGCA       c.1920
 I  S  D  M  K  T  C  I  V  P  E  A  F  L  L  F  S  R  R  A         p.640

          .         .         .         .         .         .       g.107533
 GATATCAGACGAATTTCTCTGGAAACAAACAATAATAATGTGGCTATTCCACTCACTGGT       c.1980
 D  I  R  R  I  S  L  E  T  N  N  N  N  V  A  I  P  L  T  G         p.660

          .         .         .         .         .         .       g.107593
 GTCAAAGAAGCTTCTGCTTTGGATTTTGATGTGACAGACAACCGAATTTATTGGACTGAT       c.2040
 V  K  E  A  S  A  L  D  F  D  V  T  D  N  R  I  Y  W  T  D         p.680

          .   | 10     .         .         .         .         .    g.109506
 ATATCACTCAAG | ACCATCAGCAGAGCCTTTATGAATGGCAGTGCACTGGAACATGTGGTA    c.2100
 I  S  L  K   | T  I  S  R  A  F  M  N  G  S  A  L  E  H  V  V      p.700

          .         .         .         .         .         .       g.109566
 GAATTCGGCTTAGATTATCCAGAAGGCATGGCAGTAGACTGGCTTGGGAAGAACTTGTAC       c.2160
 E  F  G  L  D  Y  P  E  G  M  A  V  D  W  L  G  K  N  L  Y         p.720

          .         .         .         .         .         .       g.109626
 TGGGCAGACACAGGAACGAATCGAATTGAGGTGTCAAAGTTGGATGGGCAGCACCGACAA       c.2220
 W  A  D  T  G  T  N  R  I  E  V  S  K  L  D  G  Q  H  R  Q         p.740

          .         .         .         .         .          | 11    g.111914
 GTTTTGGTGTGGAAAGACCTAGATAGTCCCAGAGCTCTCGCGTTGGACCCTGCCGAAGG | A    c.2280
 V  L  V  W  K  D  L  D  S  P  R  A  L  A  L  D  P  A  E  G  |      p.760

          .         .         .         .         .         .       g.111974
 TTTATGTATTGGACTGAATGGGGTGGAAAACCTAAGATAGACAGAGCTGCAATGGATGGA       c.2340
 F  M  Y  W  T  E  W  G  G  K  P  K  I  D  R  A  A  M  D  G         p.780

          .         .         .         .         .         .       g.112034
 AGTGAACGTACTACCTTAGTTCCAAATGTGGGGCGGGCAAACGGCCTAACTATTGATTAT       c.2400
 S  E  R  T  T  L  V  P  N  V  G  R  A  N  G  L  T  I  D  Y         p.800

          .         .         .         .         .         .       g.112094
 GCTAAAAGGAGGCTTTATTGGACAGACCTGGACACCAACTTAATAGAATCTTCAAATATG       c.2460
 A  K  R  R  L  Y  W  T  D  L  D  T  N  L  I  E  S  S  N  M         p.820

      | 12   .         .         .         .         .         .    g.112778
 CTTG | GGCTCAACCGTGAAGTTATAGCAGATGACTTGCCTCATCCTTTTGGCTTAACTCAG    c.2520
 L  G |   L  N  R  E  V  I  A  D  D  L  P  H  P  F  G  L  T  Q      p.840

          .         .         .         .         .         .       g.112838
 TACCAAGATTATATCTACTGGACGGACTGGAGCCGACGCAGCATTGAGCGTGCCAACAAA       c.2580
 Y  Q  D  Y  I  Y  W  T  D  W  S  R  R  S  I  E  R  A  N  K         p.860

          .         .         .         .         .         .       g.112898
 ACCAGTGGCCAAAACCGCACCATCATTCAGGGCCATTTGGATTATGTGATGGACATCCTC       c.2640
 T  S  G  Q  N  R  T  I  I  Q  G  H  L  D  Y  V  M  D  I  L         p.880

          .         .         .         .         .         .       g.112958
 GTCTTTCACTCATCTCGACAGTCAGGGTGGAATGAATGTGCTTCCAGCAATGGGCACTGC       c.2700
 V  F  H  S  S  R  Q  S  G  W  N  E  C  A  S  S  N  G  H  C         p.900

          .         .         .         .         .         .       g.113018
 TCCCACCTCTGCTTGGCTGTGCCAGTTGGGGGTTTTGTTTGTGGATGCCCTGCCCACTAC       c.2760
 S  H  L  C  L  A  V  P  V  G  G  F  V  C  G  C  P  A  H  Y         p.920

          .         .         .  | 13      .         .         .    g.120868
 TCTCTTAATGCTGACAACAGGACTTGTAGTG | CTCCTACGACTTTCCTGCTCTTCAGTCAA    c.2820
 S  L  N  A  D  N  R  T  C  S  A |   P  T  T  F  L  L  F  S  Q      p.940

          .         .         .         .         .         .       g.120928
 AAGAGTGCCATCAACCGCATGGTGATTGATGAACAACAGAGCCCCGACATCATCCTTCCC       c.2880
 K  S  A  I  N  R  M  V  I  D  E  Q  Q  S  P  D  I  I  L  P         p.960

          .         .         .         .         .         .       g.120988
 ATCCACAGCCTTCGGAATGTCCGGGCCATTGACTATGACCCACTGGACAAGCAACTCTAT       c.2940
 I  H  S  L  R  N  V  R  A  I  D  Y  D  P  L  D  K  Q  L  Y         p.980

          .         .         .         .         .     | 14   .    g.122730
 TGGATTGACTCACGACAAAACATGATCCGAAAGGCACAAGAAGATGGCAGCCAG | GGCTTT    c.3000
 W  I  D  S  R  Q  N  M  I  R  K  A  Q  E  D  G  S  Q   | G  F      p.1000

          .         .         .         .         .         .       g.122790
 ACTGTGGTTGTGAGCTCAGTTCCGAGTCAGAACCTGGAAATACAACCCTATGACCTCAGC       c.3060
 T  V  V  V  S  S  V  P  S  Q  N  L  E  I  Q  P  Y  D  L  S         p.1020

          .         .         .         .         .         .       g.122850
 ATTGATATTTACAGCCGCTACATCTACTGGACTTGTGAGGCTACCAATGTCATTAATGTG       c.3120
 I  D  I  Y  S  R  Y  I  Y  W  T  C  E  A  T  N  V  I  N  V         p.1040

          .         .         .         .         .         .       g.122910
 ACAAGATTAGATGGGAGATCAGTTGGAGTGGTGCTGAAAGGCGAGCAGGACAGACCTCGA       c.3180
 T  R  L  D  G  R  S  V  G  V  V  L  K  G  E  Q  D  R  P  R         p.1060

          .         .       | 15 .         .         .         .    g.124355
 GCCGTTGTGGTAAACCCAGAGAAAGG | GTATATGTATTTTACCAATCTTCAGGAAAGGTCT    c.3240
 A  V  V  V  N  P  E  K  G  |  Y  M  Y  F  T  N  L  Q  E  R  S      p.1080

          .         .         .         .         .         .       g.124415
 CCTAAAATTGAACGGGCTGCTTTGGATGGGACAGAACGGGAGGTCCTCTTTTTCAGTGGC       c.3300
 P  K  I  E  R  A  A  L  D  G  T  E  R  E  V  L  F  F  S  G         p.1100

          .         .         .         .         .         .       g.124475
 TTAAGTAAACCAATTGCTTTAGCCCTTGATAGCAGGCTGGGCAAGCTCTTTTGGGCTGAT       c.3360
 L  S  K  P  I  A  L  A  L  D  S  R  L  G  K  L  F  W  A  D         p.1120

          .         .         .        | 16.         .         .    g.133366
 TCAGATCTCCGGCGAATTGAAAGCAGTGATCTCTCAG | GTGCTAACCGGATAGTATTAGAA    c.3420
 S  D  L  R  R  I  E  S  S  D  L  S  G |   A  N  R  I  V  L  E      p.1140

          .         .         .         .         .         .       g.133426
 GACTCCAATATCTTGCAGCCTGTGGGACTTACTGTGTTTGAAAACTGGCTCTATTGGATT       c.3480
 D  S  N  I  L  Q  P  V  G  L  T  V  F  E  N  W  L  Y  W  I         p.1160

          .         .         .         .         .         .       g.133486
 GATAAACAGCAGCAAATGATTGAAAAAATTGACATGACAGGTCGAGAGGGTAGAACCAAA       c.3540
 D  K  Q  Q  Q  M  I  E  K  I  D  M  T  G  R  E  G  R  T  K         p.1180

          .         .         .         .         .         .       g.133546
 GTCCAAGCTCGAATTGCCCAGCTTAGTGACATTCATGCAGTAAAGGAGCTGAACCTTCAA       c.3600
 V  Q  A  R  I  A  Q  L  S  D  I  H  A  V  K  E  L  N  L  Q         p.1200

         | 17.         .         .         .         .         .    g.136630
 GAATACA | GACAGCACCCTTGTGCTCAGGATAATGGTGGCTGTTCACATATTTGTCTTGTA    c.3660
 E  Y  R |   Q  H  P  C  A  Q  D  N  G  G  C  S  H  I  C  L  V      p.1220

          .         .         .         .         .         .       g.136690
 AAGGGGGATGGTACTACAAGGTGTTCTTGCCCCATGCACCTGGTTCTACTTCAAGATGAG       c.3720
 K  G  D  G  T  T  R  C  S  C  P  M  H  L  V  L  L  Q  D  E         p.1240

          .    | 18    .         .         .         .         .    g.139867
 CTATCATGTGGAG | AACCTCCAACATGTTCTCCTCAGCAGTTTACTTGTTTCACGGGGGAA    c.3780
 L  S  C  G  E |   P  P  T  C  S  P  Q  Q  F  T  C  F  T  G  E      p.1260

          .         .         .         .         .         .       g.139927
 ATTGACTGTATCCCTGTGGCTTGGCGGTGCGATGGGTTTACTGAATGTGAAGACCACAGT       c.3840
 I  D  C  I  P  V  A  W  R  C  D  G  F  T  E  C  E  D  H  S         p.1280

          .         .         .         .         .         .       g.139987
 GATGAACTCAATTGTCCTGTATGCTCAGAGTCCCAGTTCCAGTGTGCCAGTGGGCAGTGT       c.3900
 D  E  L  N  C  P  V  C  S  E  S  Q  F  Q  C  A  S  G  Q  C         p.1300

          .         .         .         .         .         .       g.140047
 ATTGATGGTGCCCTCCGATGCAATGGAGATGCAAACTGCCAGGACAAATCAGATGAGAAG       c.3960
 I  D  G  A  L  R  C  N  G  D  A  N  C  Q  D  K  S  D  E  K         p.1320

          . | 19       .         .         .         .         .    g.141034
 AACTGTGAAG | TGCTTTGTTTAATTGATCAGTTCCGCTGTGCCAATGGTCAGTGCATTGGA    c.4020
 N  C  E  V |   L  C  L  I  D  Q  F  R  C  A  N  G  Q  C  I  G      p.1340

          .         .         .         .         .         .       g.141094
 AAGCACAAGAAGTGTGATCATAATGTGGATTGCAGTGACAAGTCAGATGAACTGGATTGT       c.4080
 K  H  K  K  C  D  H  N  V  D  C  S  D  K  S  D  E  L  D  C         p.1360

   | 20      .         .         .         .         .         .    g.145015
 T | ATCCGACTGAAGAACCAGCACCACAGGCCACCAATACAGTTGGTTCTGTTATTGGCGTA    c.4140
 Y |   P  T  E  E  P  A  P  Q  A  T  N  T  V  G  S  V  I  G  V      p.1380

          .         .         .         .         .         .       g.145075
 ATTGTCACCATTTTTGTGTCTGGAACTGTATACTTTATCTGCCAGAGGATGTTGTGTCCA       c.4200
 I  V  T  I  F  V  S  G  T  V  Y  F  I  C  Q  R  M  L  C  P         p.1400

          .         .         .         .         .         .       g.145135
 CGTATGAAGGGAGATGGGGAAACTATGACTAATGACTATGTAGTTCATGGACCAGCTTCT       c.4260
 R  M  K  G  D  G  E  T  M  T  N  D  Y  V  V  H  G  P  A  S         p.1420

          .         .         .         .         .   | 21     .    g.146453
 GTGCCTCTTGGTTATGTGCCACACCCAAGTTCTTTGTCAGGATCTCTTCCAG | GAATGTCT    c.4320
 V  P  L  G  Y  V  P  H  P  S  S  L  S  G  S  L  P  G |   M  S      p.1440

          .         .         .         .         .         .       g.146513
 CGAGGTAAATCAATGATCAGCTCCCTCAGTATCATGGGGGGAAGCAGTGGACCCCCCTAT       c.4380
 R  G  K  S  M  I  S  S  L  S  I  M  G  G  S  S  G  P  P  Y         p.1460

          .         .         .         .         .         .       g.146573
 GACCGAGCCCATGTTACAGGAGCATCATCAAGTAGTTCTTCAAGCACCAAAGGCACTTAC       c.4440
 D  R  A  H  V  T  G  A  S  S  S  S  S  S  S  T  K  G  T  Y         p.1480

           | 22        .         .         .         .         .    g.147266
 TTCCCTGCA | ATTTTGAACCCTCCACCATCCCCAGCCACAGAGCGATCACATTACACTATG    c.4500
 F  P  A   | I  L  N  P  P  P  S  P  A  T  E  R  S  H  Y  T  M      p.1500

          .         .         .         .        | 23.         .    g.150470
 GAATTTGGATATTCTTCAAACAGTCCTTCCACTCATAGGTCATACAG | CTACAGGCCATAT    c.4560
 E  F  G  Y  S  S  N  S  P  S  T  H  R  S  Y  S  |  Y  R  P  Y      p.1520

          .         .         .         .         .         .       g.150530
 AGCTACCGGCACTTTGCACCCCCCACCACACCCTGCAGCACAGATGTTTGTGACAGTGAC       c.4620
 S  Y  R  H  F  A  P  P  T  T  P  C  S  T  D  V  C  D  S  D         p.1540

          .         .         .         .         .         .       g.150590
 TATGCTCCTAGTCGGAGAATGACCTCAGTGGCAACAGCCAAGGGCTATACCAGTGACTTG       c.4680
 Y  A  P  S  R  R  M  T  S  V  A  T  A  K  G  Y  T  S  D  L         p.1560

          .         .         .         .         .         .       g.150650
 AACTATGATTCAGAACCTGTGCCCCCACCTCCCACACCCCGAAGCCAATACTTGTCAGCA       c.4740
 N  Y  D  S  E  P  V  P  P  P  P  T  P  R  S  Q  Y  L  S  A         p.1580

          .         .         .         .         .         .       g.150710
 GAGGAGAACTATGAAAGCTGCCCACCTTCTCCATACACAGAGAGGAGCTATTCTCATCAC       c.4800
 E  E  N  Y  E  S  C  P  P  S  P  Y  T  E  R  S  Y  S  H  H         p.1600

          .         .         .         .                           g.150752
 CTCTACCCACCGCCACCCTCTCCCTGTACAGACTCCTCCTGA                         c.4842
 L  Y  P  P  P  P  S  P  C  T  D  S  S  X                           p.1613

          .         .         .         .         .         .       g.150812
 ggaggggccctcctcctctgactgcctccaacgtaaaaatgtaaatataaatttggttga       c.*60

          .         .         .         .         .         .       g.150872
 gatctggagggggggagggagctattagagaaggatgaggcagaccatgtacagttaaaa       c.*120

          .         .         .         .         .         .       g.150932
 ttataaaatggggtagggaatactggagatatttgtacagaagaaaaggatatttatata       c.*180

          .         .         .         .         .         .       g.150992
 ttttcttaaaacagcagatttgctgcttgtgccataaaagtttgtataaaaaaaatttgt       c.*240

          .         .         .         .         .         .       g.151052
 actaaaagttttatttttgcaaactaaatacacaaagcatgccttaaacccagtgaagca       c.*300

          .         .         .         .         .         .       g.151112
 actgagtacaaaggaaacaggaataataaaggcatcactgaccaggaatatctgggcttt       c.*360

          .         .         .         .         .         .       g.151172
 attgataccaaaaataaaaaagaggaagaagaaaaattaagtccatctcagagcagcaaa       c.*420

          .         .         .         .         .         .       g.151232
 ccatagatacatggatgtagccagatagccttcagttaactaacatttgagggccaacaa       c.*480

          .         .         .         .         .         .       g.151292
 gtaagaaatgatgaaaggaaaaaaatgcaattaatactaaccttggacgaagggctttgt       c.*540

          .         .         .         .         .         .       g.151352
 tttctctaggaatccaacagtgctagtgaggaaagtagatatttctaaaaacccattctg       c.*600

          .         .         .         .         .         .       g.151412
 ggtgttgctgttgtaggagagatcagccctctggtaagatgccatgaagctgtgtgtgtg       c.*660

          .         .         .         .         .         .       g.151472
 tgcaagtctctgtccctacctttagaatccatacctctgtcaaaatgaatttttttctct       c.*720

          .         .         .         .         .         .       g.151532
 aggtatgtttaccttgctgcctcctccagcaacttggtaagtcattttgctaagatacca       c.*780

          .         .         .         .         .         .       g.151592
 tgatttttttaagctgaagcattgactaaatggaattttctaaattaaacttgattttaa       c.*840

          .         .         .         .         .         .       g.151652
 tatttcttctagctccattccccagtaggcttagctcttcaatttgactgctgtttttgc       c.*900

          .         .         .         .         .         .       g.151712
 ataatgatcaaaagttagacatattatttctcttcttccaagattgttttaatgctcatt       c.*960

          .         .         .         .         .         .       g.151772
 aaaatgtctttttacaacacatatagacaatgtttaagaattaaaaatttaaccattatg       c.*1020

          .         .         .         .         .         .       g.151832
 tttttgttgtaaatctcatatccttgcactactttcagcatatatcacagtacgaaatca       c.*1080

          .         .         .         .         .         .       g.151892
 tttatatatatatatatatatatatatatatatatatatatatatatatatatattttgt       c.*1140

          .         .         .         .         .         .       g.151952
 ttgtttgtttgttttctgagtaaaacatttaaatatgttctggttagagacaatctattt       c.*1200

          .         .         .         .         .         .       g.152012
 aaaaagatttttttcttattaggattttccctatattaacagtttgtgatgttttcatgt       c.*1260

          .         .         .         .         .         .       g.152072
 tctttagaccggtttttctcagaataatgtctacatacatacctcttctaatgtgtgaca       c.*1320

          .         .         .         .         .         .       g.152132
 tgaatttaatatctttctgttacccactgtgaatgttaggctgttttcaaattatccaca       c.*1380

          .         .         .         .         .         .       g.152192
 aattattcttgtaatcacccaatatttttatgtgggtcctctcttacccattatggatta       c.*1440

          .         .         .         .         .         .       g.152252
 agatagtttaacaaatttaacaatgaggattaaatgagaaggcaaactgttaacttctca       c.*1500

          .         .         .         .         .         .       g.152312
 gctgtcagaatttgggtggaagggaataatggaagcctcttttgtgatctgcctgacctg       c.*1560

          .         .         .         .         .         .       g.152372
 ctgtcatgtatggtactggggctgctacatcttgagctatcagggctgacctgtggaatg       c.*1620

          .         .         .         .         .         .       g.152432
 attctagcacttgctctgccaccttgccagaagttcgtttcctgctttttacacatgtgt       c.*1680

          .         .         .         .         .         .       g.152492
 agcacttctctgctaaaattgaatggttttaaactaatgtatttttagcttaagaggtgt       c.*1740

          .         .         .         .         .         .       g.152552
 tggtcagttaattattgaattttttttttttcttttttaattctgtcttgccaaggcctc       c.*1800

          .         .         .         .         .         .       g.152612
 tctgggtttcagggcccaagagaaaacagtggaagaaaggattcagaatttgggcaaggg       c.*1860

          .         .         .         .         .         .       g.152672
 tgaagtaactgttcatgcaagttaaaaatacctaagtaaagtttttgaagataaaattgt       c.*1920

          .         .         .         .         .         .       g.152732
 ggtttcagaataatgctgattgttggagactgtaagaatcaggtgcacttgattttgcat       c.*1980

          .         .         .         .         .         .       g.152792
 ataagcaaatggtaaatctatcagaatcctaaaacagacaagcatgaactcttcccattg       c.*2040

          .         .         .         .         .         .       g.152852
 ctggaactaagtgcccacagtgtcagacaaaatggacattgaacttggattctgtgatac       c.*2100

          .         .         .         .         .         .       g.152912
 acagggcacttgatgcttaaatgaagatggaaaggttagcaatacctgggtgtcagttag       c.*2160

          .         .         .         .         .         .       g.152972
 aatttgagaattctatatgtttacatatttaaatgtgcatcttgatctggtgggcttccc       c.*2220

          .         .         .         .         .         .       g.153032
 atgtggagacttgcactctaattaactaagaagaatattgccttgttggatctcagtcca       c.*2280

          .         .         .         .         .         .       g.153092
 cgtgcttgcactgcgatggcaatggcctcttcttcaaaatactaatttgtgtgccaattt       c.*2340

          .         .         .         .         .         .       g.153152
 gtttaaaattatttgaaggcagttcagcctaatctcagtgttctctttctggggtagatg       c.*2400

          .         .         .         .         .         .       g.153212
 agatggattcttaatatttctgggagtactttttaatgagagaattgtcaaatttggaaa       c.*2460

          .         .         .         .         .         .       g.153272
 gatttattgagccttaggttacatggacagttaagcttaagtaaactgtatattgattat       c.*2520

          .         .         .         .         .         .       g.153332
 caaacacaagctgtaattggaaaagttgagaggaaaagcatgagatcacaaattaggggg       c.*2580

          .         .         .         .         .         .       g.153392
 aaaaaagaaaagggatttttaaatttggtgtattaaattcattgtccaagggggaaaatg       c.*2640

          .         .         .         .         .         .       g.153452
 aataatgtttcattagattccttatatgcaaaagtatttattttgaacatgtgtcctaaa       c.*2700

          .         .         .         .         .         .       g.153512
 atatatgcactaactgatgtgattaaaattgtccaagaaataaacttgagcataacatac       c.*2760

          .         .         .         .         .         .       g.153572
 tttgtgtgcaccacagtaagctattctgcattgaagtggtcttttataactaaggcctgg       c.*2820

          .         .         .         .         .         .       g.153632
 actttgctccaacagagtcgtggtcttctgaatagtgacttaaggagttttgtttgctta       c.*2880

          .         .         .         .         .         .       g.153692
 agtcagataatagcacattcacagggaaacaaagagagttggtggatagaattttctgac       c.*2940

          .         .         .         .         .         .       g.153752
 tattaatttttcttccatgaaattttattatgcctttggcactttctgccactcttacag       c.*3000

          .         .         .         .         .         .       g.153812
 catatcacaagatatctgtttagcagaagattatgtagttactttaattttaatataaaa       c.*3060

          .         .         .         .         .         .       g.153872
 gtagcttgtgatacattaccaagagatctctgattctttagtaagtttgagaacacctat       c.*3120

          .         .         .         .         .         .       g.153932
 tctacagagatgataggtacttagaaatgaagactttaaagtacattttaatctaatata       c.*3180

          .         .         .         .         .         .       g.153992
 ggccagtaattgggggaaggggctttgagcagtacaattttaagatgattttgagggttg       c.*3240

          .         .         .         .         .         .       g.154052
 tatttctttatcatttaaaaatatcctaaagtcagtaatttatatgaaggaaactcattc       c.*3300

          .         .         .         .         .         .       g.154112
 attattgaaggtattaaaaatagccatcatctgtattaggtagcagttttggaggatcat       c.*3360

          .         .         .         .         .         .       g.154172
 ctttttcttttgctataaagccctattaatgaagaatacttccagtagagttaatagctg       c.*3420

          .         .         .         .         .         .       g.154232
 tagcttacctagtgtgttaatgaagtgtgtttatttatgtgacttgataccagtagtcat       c.*3480

          .         .         .         .         .         .       g.154292
 aatagagactgaagaggtatgcgttaagcacgcctacttctatgcagtaaacaggctgca       c.*3540

          .         .         .         .         .         .       g.154352
 gctgcctagattagattcttagaaatgtcatattttgaattgttttatttcttgtagggg       c.*3600

          .         .         .         .         .         .       g.154412
 aagctttgtcccacttcattcatttgcatgccataggaattacatattggttatcattac       c.*3660

          .         .         .         .         .         .       g.154472
 gtatctaacaagattcagaaacaaaaatcttggacttttcacatccgaaatatgtcagct       c.*3720

          .         .         .         .         .         .       g.154532
 cttaataaatgtgtggtgcttaagtctacatatggcatccatagttgatttagagtatgg       c.*3780

          .         .         .         .         .         .       g.154592
 atatgagtgtgttgaccagttatcagtaggtggacaaatatttgggcatctacagatgag       c.*3840

          .         .         .         .         .         .       g.154652
 actatgcactaagtgtggactgagtcctaaagaagcttatagtcaggtgttgtttaaaac       c.*3900

          .         .         .         .         .         .       g.154712
 attatcagaattcttaaacccaaggaatttaattttatttggtatttcttaagcctaaaa       c.*3960

          .         .         .         .         .         .       g.154772
 tgaaccaagagaaagatgattttagaaagtacttgtagtgaaagatgattttagaaagta       c.*4020

          .         .         .         .         .         .       g.154832
 cttgtagtgcatgtgtggcttctgacttttgggatggcaccattttataatagtttcaaa       c.*4080

          .         .         .         .         .         .       g.154892
 atttagcttttgaaattctcaacattttatggtagaagactttggacctcaagtataaaa       c.*4140

          .         .         .         .         .         .       g.154952
 ttatacgtttataatttttttaaaatttaaattataagtattgtgaattcacactctcag       c.*4200

          .         .         .         .         .         .       g.155012
 gctattgtctgacttgatctacgtctcataaagcctgtacctgagtggagtggaaggtgg       c.*4260

          .         .         .         .         .         .       g.155072
 agtcttaggttaatcagttactgactctaccctcaccctctttcaattgaggtaaacttt       c.*4320

          .         .         .         .         .         .       g.155132
 gctgtttttctttttcataaagcattctcaaattgttgagtttattgctgaaaaaaatct       c.*4380

          .         .         .         .         .         .       g.155192
 ccatgactttacagatagaattacaaactaaatgatgtcttgtatttagaagcagagtac       c.*4440

          .         .         .         .         .         .       g.155252
 agacctaacgaactgttagattctccaccatcacttagggtttgcccagaagcaacacca       c.*4500

          .         .         .         .         .         .       g.155312
 gagaattacagacaacgcgcttttgctgaactgtccattttggtggttgtgtttttcagt       c.*4560

          .         .         .         .         .         .       g.155372
 caaatataagcaggatgggcgatagagatatatttatatatagatacatattctatatat       c.*4620

          .         .         .         .         .         .       g.155432
 ctaatgcctaaatatgggtattaaagggaaaatttttaaagtctgattaaatccaatatg       c.*4680

          .         .         .         .         .         .       g.155492
 acatgaaattaaatatatggattagtaaggaaaaatgttaaaaagtagagaggataccaa       c.*4740

          .         .         .         .         .         .       g.155552
 gaagattaaactggactagccttatttgcaagtgaaggatctggtgctgctttcagatgt       c.*4800

          .         .         .         .         .         .       g.155612
 ttatcttttatttttttcccttaagctttaatcttcgtcattgtcttaaagtcaactggt       c.*4860

          .         .         .         .         .         .       g.155672
 gtttcttgttcattgactttggtacgatggtgctttgcaaggatgtatttatgttataat       c.*4920

          .         .         .         .         .         .       g.155732
 ggccaacatttggtcagcccttgtccacttattcacttccctccttttgtaaaataagtg       c.*4980

          .         .         .         .         .         .       g.155792
 ctttaattataaactgtataaaaataccttgtataaaccccttttttgattattacaata       c.*5040

          .         .         .         .         .         .       g.155852
 aataagctgaattgtaacaaatgaaatttgatttttgtaataaaacagtggaaaagtaaa       c.*5100

                                                                    g.155853
 a                                                                  c.*5101

 (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 Low density lipoprotein receptor-related protein 6 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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