Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS) - coding DNA reference sequence

(used for variant description)

(last modified June 30, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_198270.2 in the NHS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011553.2, covering NHS transcript NM_198270.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5224
                       ggtggcgacggcgagcacagaaacgatggagttgagcc       c.-301

 .         .         .         .         .         .                g.5284
 agtcgaccctggttggaagcaagtgagaagagaccaggcgcacccctaaatttctgtgcg       c.-241

 .         .         .         .         .         .                g.5344
 gagcgcttgtcatcctccccagggaacggtgcacccaaaggaggactggctggactgatt       c.-181

 .         .         .         .         .         .                g.5404
 tgctagggagagggcggggaagaggaggcaaggtgagcagagaagccccctgcgtatccg       c.-121

 .         .         .         .         .         .                g.5464
 gactgccagatcgcgcttttgccggactcctgccccctccctgctcaggtgggcgcgccc       c.-61

 .         .         .         .         .         .                g.5524
 ggtctccagctcacaggggcgcttggaggagaccagaaagtcgccgcctggctgcgcggg       c.-1

          .         .         .         .         .         .       g.5584
 ATGCCTTTCGCCAAGCGGATCGTGGAGCCGCAATGGCTGTGCAGGCAGCGGCGCCCTGCG       c.60
 M  P  F  A  K  R  I  V  E  P  Q  W  L  C  R  Q  R  R  P  A         p.20

          .         .         .         .         .         .       g.5644
 CCCGGCCCAGCAGTGGACGCGAGCGGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCG       c.120
 P  G  P  A  V  D  A  S  G  G  S  A  E  P  P  P  P  L  Q  P         p.40

          .         .         .         .         .         .       g.5704
 CCGGGCCGGAGGGACCTGGACGAGGTCGAGGCGCCAGGGCCAGAGGAGCCAGCCCGCGCC       c.180
 P  G  R  R  D  L  D  E  V  E  A  P  G  P  E  E  P  A  R  A         p.60

          .         .         .         .         .         .       g.5764
 GTCCCTGCACCTTCAGGGCTGCCACCGCCGCCGCCGCCACTGCCCGCGCCGGCCGACCAG       c.240
 V  P  A  P  S  G  L  P  P  P  P  P  P  L  P  A  P  A  D  Q         p.80

          .         .         .         .         .         .       g.5824
 ACTCAGCCGCCGCACGGAGAGGCGTCCGTGGCTGGCGAGGAGAGCACGGCGGGGATCCCG       c.300
 T  Q  P  P  H  G  E  A  S  V  A  G  E  E  S  T  A  G  I  P         p.100

          .         .         .         .         .         .       g.5884
 GAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGCGGCGGCGGCGGCCGTGCTGCTC       c.360
 E  A  A  P  A  A  G  E  A  S  S  A  A  A  A  A  A  V  L  L         p.120

          .         .         .         .         .         .       g.5944
 ATGCTGGACCTATGCGCGGTCAGCAACGCCGCTCTGGCCCGTGTCCTCCGGCAGCTCTCG       c.420
 M  L  D  L  C  A  V  S  N  A  A  L  A  R  V  L  R  Q  L  S         p.140

          .         .         .         .         .         .       g.6004
 GACGTGGCCCGGCACGCTTGCAGCCTCTTCCAGGAGCTCGAGAGCGACATCCAGCTCACC       c.480
 D  V  A  R  H  A  C  S  L  F  Q  E  L  E  S  D  I  Q  L  T         p.160

          .         .         .         .         .         .       g.6064
 CACCGCCGCGTCTGGGCGCTGCAGGGCAAGCTCGGCGGCGTGCAGCGCGTCCTCAGCACG       c.540
 H  R  R  V  W  A  L  Q  G  K  L  G  G  V  Q  R  V  L  S  T         p.180

          .         .      | 02  .         .         .         .    g.317540
 CTTGACCCTAAGCAGGAGGCAGTGC | CCGTCTCCAACCTGGACATAGAGAGTAAGCTGAGT    c.600
 L  D  P  K  Q  E  A  V  P |   V  S  N  L  D  I  E  S  K  L  S      p.200

          .         .         .         .         .         .       g.317600
 GTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAACATCTTCCTCCCAGCCACAAGGCCA       c.660
 V  Y  Y  R  A  P  W  H  Q  Q  R  N  I  F  L  P  A  T  R  P         p.220

          .         .         .         .         .         | 03    g.322100
 CCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAG | AA    c.720
 P  C  V  E  E  L  H  R  H  A  R  Q  S  L  Q  A  L  R  R  E |       p.240

          .         .         .         .         .         .       g.322160
 CACCGGAGCCGGAGCGATCGCCGAGAGCAAAGAGCAGCTGCCCCCCTTTCCATTGCAGCT       c.780
 H  R  S  R  S  D  R  R  E  Q  R  A  A  A  P  L  S  I  A  A         p.260

          .         .         .         .         .         .       g.322220
 CCTCCACTGCCAGCCTACCCTCCAGCTCACAGCCAGAGGAGGCGTGAGTTTAAGGACCGT       c.840
 P  P  L  P  A  Y  P  P  A  H  S  Q  R  R  R  E  F  K  D  R         p.280

          .   | 04     .         .         .         .         .    g.351252
 CACTTTTTAACG | TCCCATCCCCCAGAGGATGAAGATACAGATGTCATGTTAGGGCAGAGG    c.900
 H  F  L  T   | S  H  P  P  E  D  E  D  T  D  V  M  L  G  Q  R      p.300

          .         .         .         .         .         .       g.351312
 CCGAAAAACCCAATACACAATATCCCTTCCACACTGGACAAGCAGACCAACTGGAGCAAA       c.960
 P  K  N  P  I  H  N  I  P  S  T  L  D  K  Q  T  N  W  S  K         p.320

          .         .         .         .         .         .       g.351372
 GCACTACCTCTCCCGACGCCAGAGGAGAAGATGAAACAAGATGCCCAAGTGATTTCTTCT       c.1020
 A  L  P  L  P  T  P  E  E  K  M  K  Q  D  A  Q  V  I  S  S         p.340

          .         .      | 05  .         .         .         .    g.354097
 TGCATTATTCCCATCAATGTTACTG | GAGTTGGCTTTGACAGAGAGGCTAGTATACGCTGC    c.1080
 C  I  I  P  I  N  V  T  G |   V  G  F  D  R  E  A  S  I  R  C      p.360

          .         .         .         .         .         .       g.354157
 TCTCTGGTTCATTCACAATCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACC       c.1140
 S  L  V  H  S  Q  S  V  L  Q  R  R  R  K  L  R  R  R  K  T         p.380

          .         .         .        | 06.         .         .    g.355133
 ATCTCGGGTATCCCCAGAAGAGTTCAACAAGAAATAG | ATTCTGATGAATCACCAGTGGCC    c.1200
 I  S  G  I  P  R  R  V  Q  Q  E  I  D |   S  D  E  S  P  V  A      p.400

          .         .         .         .         .         .       g.355193
 AGGGAAAGGAATGTGATTGTGCACACAAACCCAGACCCCTCCAACACTGTCAATAGGATA       c.1260
 R  E  R  N  V  I  V  H  T  N  P  D  P  S  N  T  V  N  R  I         p.420

          .         .         .         .         .         .       g.355253
 TCCGGAACCAGGGACTCTGAGTGCCAAACCGAGGATATTCTGATTGCTGCCCCATCCAGA       c.1320
 S  G  T  R  D  S  E  C  Q  T  E  D  I  L  I  A  A  P  S  R         p.440

          .         .         .         .         .         .       g.355313
 AGGAGAATCAGAGCTCAAAGGGGTCAAAGCATTGCAGCTTCCCTTTCTCATTCTGCTGGC       c.1380
 R  R  I  R  A  Q  R  G  Q  S  I  A  A  S  L  S  H  S  A  G         p.460

          .         .         .         .         .         .       g.355373
 AACATTTCTGCCCTAGCAGACAAAGGTGACACCATGTTTACTCCTGCAGTGAGCAGCCGC       c.1440
 N  I  S  A  L  A  D  K  G  D  T  M  F  T  P  A  V  S  S  R         p.480

          .         .         .         .         .         .       g.355433
 ACAAGATCTCGGAGCCTTCCCCGGGAAGGTAATAGAGGTGGGGATGCTGAGCCCAAAGTT       c.1500
 T  R  S  R  S  L  P  R  E  G  N  R  G  G  D  A  E  P  K  V         p.500

          .         .         .         .         .         .       g.355493
 GGCGCTAAACCCTCAGCATATGAAGAGGGAGAGTCTTTTGTGGGTGACCATGAAAGAACC       c.1560
 G  A  K  P  S  A  Y  E  E  G  E  S  F  V  G  D  H  E  R  T         p.520

          .         .         .         .         .         .       g.355553
 CCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTG       c.1620
 P  N  D  F  S  E  A  P  S  S  P  S  A  Q  D  H  Q  P  T  L         p.540

          .         .         .         .         .         .       g.355613
 GGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGG       c.1680
 G  L  A  C  S  Q  H  L  H  S  P  Q  H  K  L  S  E  R  G  R         p.560

          .         .         .         .         .         .       g.355673
 TCACGTCTGTCCCGAATGGCTGCTGACTCTGGCAGCTGTGACATCTCCTCCAACTCAGAC       c.1740
 S  R  L  S  R  M  A  A  D  S  G  S  C  D  I  S  S  N  S  D         p.580

          .         .         .         .         .         .       g.355733
 ACGTTTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATG       c.1800
 T  F  G  S  P  I  H  C  I  S  T  A  G  V  L  L  S  S  H  M         p.600

          .         .         .         .         .         .       g.355793
 GACCAGAAAGATGACCACCAGTCATCCAGTGGCAACTGGAGTGGGAGCAGCTCCACGTGC       c.1860
 D  Q  K  D  D  H  Q  S  S  S  G  N  W  S  G  S  S  S  T  C         p.620

          .         .         .         .         .         .       g.355853
 CCCTCGCAGACCTCAGAAACCATCCCTCCTGCAGCTTCTCCTCCACTCACTGGCTCTTCA       c.1920
 P  S  Q  T  S  E  T  I  P  P  A  A  S  P  P  L  T  G  S  S         p.640

          .         .         .         .         .         .       g.355913
 CACTGTGACTCGGAGTTGTCACTAAACACAGCCCCTCATGCCAATGAGGATGCCAGTGTT       c.1980
 H  C  D  S  E  L  S  L  N  T  A  P  H  A  N  E  D  A  S  V         p.660

          .         .         .         .         .         .       g.355973
 TTCGTGACAGAGCAATACAATGACCACTTGGATAAAGTGAGAGGCCATCGGGCAAACTCC       c.2040
 F  V  T  E  Q  Y  N  D  H  L  D  K  V  R  G  H  R  A  N  S         p.680

          .         .         .         .         .         .       g.356033
 TTTACCTCCACTGTTGCAGACCTGCTGGATGATCCCAACAACAGCAACACAAGTGACAGT       c.2100
 F  T  S  T  V  A  D  L  L  D  D  P  N  N  S  N  T  S  D  S         p.700

          .         .         .         .         .         .       g.356093
 GAGTGGAATTACCTACACCACCACCATGATGCCTCCTGCCGCCAGGATTTTAGTCCTGAG       c.2160
 E  W  N  Y  L  H  H  H  H  D  A  S  C  R  Q  D  F  S  P  E         p.720

          .         .         .         .         .         .       g.356153
 CGTCCCAAGGCAGACAGCCTGGGCTGCCCAAGCTTCACAAGCATGGCCACTTATGACAGC       c.2220
 R  P  K  A  D  S  L  G  C  P  S  F  T  S  M  A  T  Y  D  S         p.740

          .         .         .         .         .         .       g.356213
 TTTCTGGAAAAGTCTCCATCAGACAAAGCGGACACTAGCTCTCACTTTTCAGTAGACACG       c.2280
 F  L  E  K  S  P  S  D  K  A  D  T  S  S  H  F  S  V  D  T         p.760

          .         .         .         .         .         .       g.356273
 GAAGGATACTATACCTCCATGCACTTTGACTGTGGTCTCAAAGGTAATAAGAGCTATGTC       c.2340
 E  G  Y  Y  T  S  M  H  F  D  C  G  L  K  G  N  K  S  Y  V         p.780

          .         .         .         .         .         .       g.356333
 TGTCACTATGCAGCCCTGGGCCCAGAGAATGGCCAGGGTGTAGGGGCTTCCCCTGGTCTT       c.2400
 C  H  Y  A  A  L  G  P  E  N  G  Q  G  V  G  A  S  P  G  L         p.800

          .         .         .         .         .         .       g.356393
 CCAGATTGTGCCTGGCAGGACTACTTAGACCACAAGAGGCAGGGAAGACCAAGCATCTCT       c.2460
 P  D  C  A  W  Q  D  Y  L  D  H  K  R  Q  G  R  P  S  I  S         p.820

          .         .         .         .         .         .       g.356453
 TTCAGGAAACCAAAGGCAAAGCCGACCCCACCTAAACGTAGCTCATCATTGAGGAAGTCT       c.2520
 F  R  K  P  K  A  K  P  T  P  P  K  R  S  S  S  L  R  K  S         p.840

          .         .         .         .         .         .       g.356513
 GATGGAAACGCAGATATTTCTGAGAAGAAAGAACCAAAGATAAGCAGTGGTCAGCACCTG       c.2580
 D  G  N  A  D  I  S  E  K  K  E  P  K  I  S  S  G  Q  H  L         p.860

          .         .         .         .         .         .       g.356573
 CCTCACAGTTCCAGGGAAATGAAGCTGCCTCTTGATTTCGCCAACACGCCTTCTCGAATG       c.2640
 P  H  S  S  R  E  M  K  L  P  L  D  F  A  N  T  P  S  R  M         p.880

          .         .         .         .         .         .       g.356633
 GAAAACGCCAATCTTCCCACCAAGCAGGAACCTTCTTGGATAAACCAGAGTGAACAAGGC       c.2700
 E  N  A  N  L  P  T  K  Q  E  P  S  W  I  N  Q  S  E  Q  G         p.900

          .         .         .         .         .         .       g.356693
 ATTAAGGAACCTCAGTTAGATGCTTCGGATATTCCACCATTCAAAGATGAAGTTGCCGAA       c.2760
 I  K  E  P  Q  L  D  A  S  D  I  P  P  F  K  D  E  V  A  E         p.920

          .         .         .         .         .         .       g.356753
 TCCACACACTATGCAGACCTCTGGCTCCTAAATGACTTGAAAACAAATGATCCTTATAGA       c.2820
 S  T  H  Y  A  D  L  W  L  L  N  D  L  K  T  N  D  P  Y  R         p.940

          .         .         .         .         .         .       g.356813
 TCTCTATCTAATTCAAGCACCGCTACGGGTACCACAGTCATTGAATGCATCAAATCTCCA       c.2880
 S  L  S  N  S  S  T  A  T  G  T  T  V  I  E  C  I  K  S  P         p.960

          .         .         .         .         .         .       g.356873
 GAGAGCTCTGAATCCCAAACATCACAATCAGAATCAAGAGCCACCACCCCATCTCTTCCT       c.2940
 E  S  S  E  S  Q  T  S  Q  S  E  S  R  A  T  T  P  S  L  P         p.980

          .         .         .         .         .         .       g.356933
 TCTGTTGACAATGAGTTTAAACTGGCTTCACCAGAAAAGCTGGCTGGCTTGGCATCTCCA       c.3000
 S  V  D  N  E  F  K  L  A  S  P  E  K  L  A  G  L  A  S  P         p.1000

          .         .         .         .         .         .       g.356993
 TCAAGTGGCTATTCAAGCCAGTCTGAAACGCCAACATCCTCTTTCCCTACAGCTTTCTTT       c.3060
 S  S  G  Y  S  S  Q  S  E  T  P  T  S  S  F  P  T  A  F  F         p.1020

          .         .         .         .         .         .       g.357053
 TCAGGTCCATTGTCTCCCGGAGGTAGCAAAAGAAAACCTAAAGTCCCAGAAAGAAAATCC       c.3120
 S  G  P  L  S  P  G  G  S  K  R  K  P  K  V  P  E  R  K  S         p.1040

          .         .         .         .         .         .       g.357113
 TCACTACAGCAACCCTCTTTAAAAGATGGAACTATATCACTGAGTAAAGACCTTGAACTT       c.3180
 S  L  Q  Q  P  S  L  K  D  G  T  I  S  L  S  K  D  L  E  L         p.1060

          .         .         .         .         .         .       g.357173
 CCAATTATACCTCCTACCCATCTTGATCTAAGTGCTCTTCATAATGTCTTGAACAAACCA       c.3240
 P  I  I  P  P  T  H  L  D  L  S  A  L  H  N  V  L  N  K  P         p.1080

          .         .         .         .         .         .       g.357233
 TTCCACCACCGTCATCCACTGCATGTTTTTACTCATAATAAGCAGAACACAGTAGGAGAA       c.3300
 F  H  H  R  H  P  L  H  V  F  T  H  N  K  Q  N  T  V  G  E         p.1100

          .         .         .         .         .         .       g.357293
 ACACTGAGGTCGAATCCTCCACCGTCCCTTGCAATTACACCAACGATCCTGAAATCTGTT       c.3360
 T  L  R  S  N  P  P  P  S  L  A  I  T  P  T  I  L  K  S  V         p.1120

          .         .         .         .         .         .       g.357353
 AACCTTAGGTCCATCAACAAGTCTGAAGAAGTTAAGCAAAAAGAAGAAAACAATACAGAT       c.3420
 N  L  R  S  I  N  K  S  E  E  V  K  Q  K  E  E  N  N  T  D         p.1140

          .         .         .         .         .         .       g.357413
 CTCCCTTATTTAGAGGAAAGCACACTCACAACGGCTGCCTTGTCTCCAAGTAAGATTAGG       c.3480
 L  P  Y  L  E  E  S  T  L  T  T  A  A  L  S  P  S  K  I  R         p.1160

          .         .         .         .         .         .       g.357473
 CCGCATACAGCAAATAAATCAGTATCTCGTCAATACTCCACTGAAGACACCATACTGTCC       c.3540
 P  H  T  A  N  K  S  V  S  R  Q  Y  S  T  E  D  T  I  L  S         p.1180

          .         .         .         .         .         .       g.357533
 TTTTTAGACTCTTCTGCAGTTGAGATGGGACCAGATAAACTACATTTAGAAAAAAACTCT       c.3600
 F  L  D  S  S  A  V  E  M  G  P  D  K  L  H  L  E  K  N  S         p.1200

          .         .         .         .         .         .       g.357593
 ACTTTTGATGTGAAGAATCGCTGCGATCCAGAAACCATAACATCAGCTGGTAGCAGTCTT       c.3660
 T  F  D  V  K  N  R  C  D  P  E  T  I  T  S  A  G  S  S  L         p.1220

          .         .         .         .         .         .       g.357653
 CTAGATTCAAATGTCACAAAAGACCAAGTGCGTACAGAGACTGAGCCTATTCCAGAAAAC       c.3720
 L  D  S  N  V  T  K  D  Q  V  R  T  E  T  E  P  I  P  E  N         p.1240

          .         .         .         .         .         .       g.357713
 ACGCCAACCAAAAACTGTGCTTTTCCCACAGAAGGATTTCAGAGGGTCTCTGCTGCCCGC       c.3780
 T  P  T  K  N  C  A  F  P  T  E  G  F  Q  R  V  S  A  A  R         p.1260

          .         .         .         .         .         .       g.357773
 CCAAATGATTTGGATGGTAAAATAATACAATATGGACCTGGTCCAGACGAAACTCTAGAA       c.3840
 P  N  D  L  D  G  K  I  I  Q  Y  G  P  G  P  D  E  T  L  E         p.1280

          .         .         .         .         .         .       g.357833
 CAGGTACAGAAGGCACCCTCTGCAGGTCTGGAGGAAGTTGCACAACCTGAATCTGTGGAT       c.3900
 Q  V  Q  K  A  P  S  A  G  L  E  E  V  A  Q  P  E  S  V  D         p.1300

          .         .         .         .         .         .       g.357893
 GTAATCACATCTCAGTCAGACTCACCAACTAGAGCAACAGATGTAAGCAATCAATTTAAG       c.3960
 V  I  T  S  Q  S  D  S  P  T  R  A  T  D  V  S  N  Q  F  K         p.1320

          .         .         .         .         .         .       g.357953
 CATCAATTTGTTATGAGCCGCCACCATGACAAAGTGCCTGGTACTATCAGCTATGAATCG       c.4020
 H  Q  F  V  M  S  R  H  H  D  K  V  P  G  T  I  S  Y  E  S         p.1340

          .         .         .         .         .         .       g.358013
 GAGATAACATCTGTAAATTCATTCCCTGAAAAATGTTCCAAGCAGGAAAATATTGCTTCA       c.4080
 E  I  T  S  V  N  S  F  P  E  K  C  S  K  Q  E  N  I  A  S         p.1360

          .         .         .         .         .         .       g.358073
 GGTATTTCAGCCAAAAGTGCCTCTGATAACAGCAAAGCAGAGGAGACCCAAGGAAATGTG       c.4140
 G  I  S  A  K  S  A  S  D  N  S  K  A  E  E  T  Q  G  N  V         p.1380

          .          | 07        .         .         .         .    g.358453
 GATGAGGCTTCATTGAAAG | AATCATCACCGAGTGATGACTCCATCATTTCACCACTTAGT    c.4200
 D  E  A  S  L  K  E |   S  S  P  S  D  D  S  I  I  S  P  L  S      p.1400

          .         .         .         .         .         .       g.358513
 GAAGACTCCCAAGCTGAAGCAGAGGGTGTGTTCGTGTCTCCAAACAAACCTCGAACAACT       c.4260
 E  D  S  Q  A  E  A  E  G  V  F  V  S  P  N  K  P  R  T  T         p.1420

          .         .       | 08 .         .         .         .    g.361655
 GAGGATTTATTTGCAGTCATTCACAG | ATCCAAGAGGAAAGTACTTGGAAGAAAAGATTCC    c.4320
 E  D  L  F  A  V  I  H  R  |  S  K  R  K  V  L  G  R  K  D  S      p.1440

          .         .         .         .         .         .       g.361715
 GGGGACATGTCTGTTCGAAGCAAATCGAGAGCTCCCCTCAGCAGTAGCAGCAGCAGCGCC       c.4380
 G  D  M  S  V  R  S  K  S  R  A  P  L  S  S  S  S  S  S  A         p.1460

          .         .         .         .         .         .       g.361775
 AGTTCCATCACTTCACCCAGCAGTAATGTGACAACCCCCAACAGCCAGAGGTCTCCTGGT       c.4440
 S  S  I  T  S  P  S  S  N  V  T  T  P  N  S  Q  R  S  P  G         p.1480

          .         .         .         .         .         .       g.361835
 CTCATATACCGAAATGCCAAAAAGTCCAACACATCCAATGAAGAGTTTAAGCTGTTACTG       c.4500
 L  I  Y  R  N  A  K  K  S  N  T  S  N  E  E  F  K  L  L  L         p.1500

          .         .         .         .         .         .       g.361895
 CTCAAGAAAGGCAGTCGCTCAGATTCTAGTTACCGCATGTCTGCCACTGAGATCCTGAAG       c.4560
 L  K  K  G  S  R  S  D  S  S  Y  R  M  S  A  T  E  I  L  K         p.1520

          .         .         .         .         .         .       g.361955
 AGCCCCATACTGCCCAAACCTCCTGGGGAGCTCACAGCAGAGTCCCCTCAGAGCACCGAT       c.4620
 S  P  I  L  P  K  P  P  G  E  L  T  A  E  S  P  Q  S  T  D         p.1540

          .         .         .         .         .         .       g.362015
 GATGCCCATCAGGGGTCACAAGGGGCTGAGGCATTGTCCCCACTCTCTCCATGCTCCCCA       c.4680
 D  A  H  Q  G  S  Q  G  A  E  A  L  S  P  L  S  P  C  S  P         p.1560

          .         .         .         .         .         .       g.362075
 CGAGTTAATGCAGAAGGCTTTTCCTCGAAGAGCTTTGCCACCTCAGCATCAGCAAGGGTT       c.4740
 R  V  N  A  E  G  F  S  S  K  S  F  A  T  S  A  S  A  R  V         p.1580

          .         .         .         .         .         .       g.362135
 GGACGTTCTCGGGCCCCTCCTGCAGCCAGCAGCAGCCGCTACAGTGTCCGCTGCCGGCTG       c.4800
 G  R  S  R  A  P  P  A  A  S  S  S  R  Y  S  V  R  C  R  L         p.1600

          .         .         .         .         .         .       g.362195
 TACAATACGCCCATGCAGGCAATCTCCGAGGGAGAGACGGAAAATTCTGACGGGAGCCCA       c.4860
 Y  N  T  P  M  Q  A  I  S  E  G  E  T  E  N  S  D  G  S  P         p.1620

          .         .         .                                     g.362228
 CATGACGACCGTTCCTCCCAGAGTTCAACATAG                                  c.4893
 H  D  D  R  S  S  Q  S  S  T  X                                    p.1630

          .         .         .         .         .         .       g.362288
 actgcctgtaccaggctgcctggcaaaggccaaaacccttactcacatgaggatggagga       c.*60

          .         .         .         .         .         .       g.362348
 acagaacagaggacttgggaaaagtctcaacttgatggggtagcatcactgctaagcaat       c.*120

          .         .         .         .         .         .       g.362408
 gaatgaatttctaaatacagtatgtgctgggtaaacagaaagtggtttagacattcttga       c.*180

          .         .         .         .         .         .       g.362468
 ttagtttccatattttaagtagctgcagtctttcatgtttttctttagcatagtttgatt       c.*240

          .         .         .         .         .         .       g.362528
 tacgcaatctccttccttgtgaaaatagaggatacaaaattgtctaattttcatgacacc       c.*300

          .         .         .         .         .         .       g.362588
 tagaaaacgttttcccagagctgcctattcagaaactaaagccctcactgtcattattct       c.*360

          .         .         .         .         .         .       g.362648
 ttaagaagatgaaattactctggatgtttggtatttttttacattaaaacaaactaaagc       c.*420

          .         .         .         .         .         .       g.362708
 aaaatttagaagaaagaactacacatatgtaaataccatatttttgataaaaatgtgtaa       c.*480

          .         .         .         .         .         .       g.362768
 atagatttatcaatgatgagtggacatgtggtcaattatctactgcacaccaactgttta       c.*540

          .         .         .         .         .         .       g.362828
 tagaatacacaaaaataaaatgtaataactgtattctgtgaataccattttcatatcaaa       c.*600

          .         .         .         .         .         .       g.362888
 tgccatatttaaatgtccaccaatatgatttctgagtggtaaacctcaaatatgaatttt       c.*660

          .         .         .         .         .         .       g.362948
 aaactggtgaactaaaggaaatcttgaggtcatatactgaaatatgaataaattaaaata       c.*720

          .         .         .         .         .         .       g.363008
 atgaattcagatctaatcatttttatgacaaattgcagcaccaaacaaactaatagcaac       c.*780

          .         .         .         .         .         .       g.363068
 ccatggctgtgatttgttgtgtggtaatttggacagaatgaaaagcatgcttttgatttt       c.*840

          .         .         .         .         .         .       g.363128
 ttttttaatcagtgagagaagtcatcattctcaacacaaagccctgaacaacagcatttg       c.*900

          .         .         .         .         .         .       g.363188
 acagtgtcctttagattttaattttttcaatggattgctttaaagagaatgagtagggaa       c.*960

          .         .         .         .         .         .       g.363248
 aatagtagttaattttaggttatgttttatattaggctactggggacataaacggtcata       c.*1020

          .         .         .         .         .         .       g.363308
 actaatgactgtaatcattaaactccttaaacagtttagaaattagctccaggttcttaa       c.*1080

          .         .         .         .         .         .       g.363368
 actaacaaaaataaaacctaagcatgccacagagctattgattaatcagtaagtacctgt       c.*1140

          .         .         .         .         .         .       g.363428
 aatgagttttcagtgaagctttctctctgtgctgatgagattcatgctacctaaaaatta       c.*1200

          .         .         .         .         .         .       g.363488
 acagaaatgacactgtgaacaatgtagttggaaaataggtatgtgtatatgcattattta       c.*1260

          .         .         .         .         .         .       g.363548
 tactcattgttaaactgggaatggggaacagctctggttcacaatactacatacaactga       c.*1320

          .         .         .         .         .         .       g.363608
 gtttttgtctggttttactatagtgtctgcttgatggcaaaaggggagggtggagggtgg       c.*1380

          .         .         .         .         .         .       g.363668
 gagaggaaatgtcagggcatgtgctctgataaaataaaggcagggaaacaagctgaatta       c.*1440

          .         .         .         .         .         .       g.363728
 cttgaaattacttgaattttcttgtcttaaaactgaaaaaaaaatgtagttacacgttaa       c.*1500

          .         .         .         .         .         .       g.363788
 aatctgcaaatggtttttacacctctgattttaacatgaacttatactaatgtttggaat       c.*1560

          .         .         .         .         .         .       g.363848
 cttatgtcagaaatataagcagctatgtacttagaataggttttgaatgggagaggtaga       c.*1620

          .         .         .         .         .         .       g.363908
 acagagagagaattaagaagggatctgacttataaaagactagaatgtgattagagtgat       c.*1680

          .         .         .         .         .         .       g.363968
 agaacataccaatgttaccaagaaattgacaagctgctggctttaagcttatgcaagtgg       c.*1740

          .         .         .         .         .         .       g.364028
 tagttgggaaagtaggaggtgtggaagagggtttgcattttggattaattcatgcaaaat       c.*1800

          .         .         .         .         .         .       g.364088
 gaaggaggaagcctggtctaagaagatactgtctttcaatagaaatgatttctaaactgc       c.*1860

          .         .         .         .         .         .       g.364148
 tacagattaagaatagataatctgattgctgttgttttgtttgtttggaaagaaaaaaaa       c.*1920

          .         .         .         .         .         .       g.364208
 tgtctggcttcttctactatttgttttcactaccaaactgtgttactaaatttcttgtca       c.*1980

          .         .         .         .         .         .       g.364268
 tccttgtatgtaaaatgggtgctgggggtggaggggtataagaggagggagagtcagaga       c.*2040

          .         .         .         .         .         .       g.364328
 gagtgtgtatgggtgtgtgtgagtgtgagtgtgtgtgtacgcacacacactggggataga       c.*2100

          .         .         .         .         .         .       g.364388
 taagctacctggtaaagggtttgaacatttacaaaatgtcacactttttcttaaaagaaa       c.*2160

          .         .         .         .         .         .       g.364448
 aatattttggggtttgaataaaatggaccaccatttctcattggaacccattaattaaga       c.*2220

          .         .         .         .         .         .       g.364508
 aaaccagcatggtttgacaccacatgggaacatgaataaatctgtctcatgatttgaaaa       c.*2280

          .         .         .         .         .         .       g.364568
 gtacaccttgcaaagttttaaaaataaagtttttaggcaaatgcgataagaaaccgtcat       c.*2340

          .         .         .         .         .         .       g.364628
 ttccagtcacagtaggcgatctttcgtaatttcataaaagcagttcgtttgcagtatggc       c.*2400

          .         .         .         .         .         .       g.364688
 ttttgtgtagttaggggttttttaagtgtgaagaaaggtatgtgggctttaaaagtgatt       c.*2460

          .         .         .         .         .         .       g.364748
 ctaaatcttgaatagaaaacacatgaattggctttaataaaaatgtcacctttttattat       c.*2520

          .         .         .         .         .         .       g.364808
 tgacattaagtaatggtaccatatattttttaaaatacatattgacttgaattgtgaggc       c.*2580

          .         .         .         .         .         .       g.364868
 aataagataccttctatatgtaatgatcacagaactaacccttataatatagttttactt       c.*2640

          .         .         .         .         .         .       g.364928
 attttgtttactctaaaaatctatagcagagtttctctattttatatttcatagatttaa       c.*2700

          .         .         .         .         .         .       g.364988
 aaaacccaaataaagatggatttaaaattcactgtggaaaagagtattgagttacaaact       c.*2760

          .         .         .         .         .         .       g.365048
 gagaagaaaaagcaggaagttccctaataatctggaatattctacatggcttgattacat       c.*2820

          .         .         .         .         .         .       g.365108
 agcaaacaagaccaagatttagggctgtcttaaacatcactgccgtcttgaagcagggta       c.*2880

          .         .         .         .         .         .       g.365168
 cacacgttaggtattgtgaagaacatcaatccgaacttttcttctgttgtttgcactgat       c.*2940

          .         .         .         .         .         .       g.365228
 gcgattttttgttcttttatgtttatacaacgtatctatgttgtgtaggggaaatttttt       c.*3000

          .         .         .         .         .         .       g.365288
 cattttttaaaaattctactttggttttgttgttgttttgatttgtttttggctaagtag       c.*3060

          .         .         .         .         .         .       g.365348
 aggacatggactagttgtagcaaacagaacatgctgtttgctcttgccaaaggtcagtga       c.*3120

          .         .         .         .         .         .       g.365408
 gtgagtgcatttgctgcagtggtggcacgtagagaactagatggtaataaagatttaaaa       c.*3180

          .         .         .         .         .         .       g.365468
 ctatgaagaaggttacagtgtaactattttggtactagaaccagttcatgctggccgaaa       c.*3240

          .         .         .         .         .         .       g.365528
 cgacaatggtttatggacttgcatccattttgtatttttgtaatatttgtaaatatgaac       c.*3300

          .         .         .         .         .         .       g.365588
 tttttaaattgctgcaaagatggtttcttttgtaagatgttttcaacgtttacattcaat       c.*3360

          .         .         .         .         .         .       g.365648
 ccaagcctttgtatattttagagctgtgcaacactttaagtcttgtatttatttttagta       c.*3420

          .         .         .         .         .         .       g.365708
 aaaatggtgacagtttcattgtgaacccctctcaaaaaaaatgtatcagaaaagtttgat       c.*3480

          .         .         .         .         .                 g.365758
 tacctagaaagtgtgtatagaaactgcaaataaacgtgactgcaattaaa                 c.*3530

 (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 Nance-Horan syndrome (congenital cataracts and dental anomalies) 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 19
©2004-2017 Leiden University Medical Center