retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) - coding DNA reference sequence

(used for variant description)

(last modified February 28, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_020366.3 in the RPGRIP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008933.1, covering RPGRIP1 transcript NM_020366.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGTCACATCTGGTGGACCCTACATCAGGAGACTTGCCAGTTAGAGACATAGATGCTATA       c.60
 M  S  H  L  V  D  P  T  S  G  D  L  P  V  R  D  I  D  A  I         p.20

          .         .      | 02  .         .         .         .    g.6735
 CCTCTGGTGCTACCAGCCTCAAAAG | GTAAGAATATGAAAACTCAACCACCCTTGAGCAGG    c.120
 P  L  V  L  P  A  S  K  G |   K  N  M  K  T  Q  P  P  L  S  R      p.40

          .         .         .         .         .         .       g.6795
 ATGAACCGGGAGGAATTGGAGGACAGTTTCTTTCGACTTCGCGAAGATCACATGTTGGTG       c.180
 M  N  R  E  E  L  E  D  S  F  F  R  L  R  E  D  H  M  L  V         p.60

          .         .         .         | 03         .         .    g.13011
 AAGGAGCTTTCTTGGAAGCAACAGGATGAGATCAAAAG | GCTGAGGACCACCTTGCTGCGG    c.240
 K  E  L  S  W  K  Q  Q  D  E  I  K  R  |  L  R  T  T  L  L  R      p.80

          .         .         .         .         .         .       g.13071
 TTGACCGCTGCTGGCCGGGACCTGCGGGTCGCGGAGGAGGCGGCGCCGCTCTCGGAGACC       c.300
 L  T  A  A  G  R  D  L  R  V  A  E  E  A  A  P  L  S  E  T         p.100

          .         .         .         .         .         .       g.13131
 GCAAGGCGCGGGCAGAAGGCGGGATGGCGGCAGCGCCTCTCCATGCACCAGCGCCCCCAG       c.360
 A  R  R  G  Q  K  A  G  W  R  Q  R  L  S  M  H  Q  R  P  Q         p.120

          .         .         .         .         .         .       g.13191
 ATGCACCGACTGCAAGGGCATTTCCACTGCGTCGGCCCTGCCAGCCCCCGCCGCGCCCAG       c.420
 M  H  R  L  Q  G  H  F  H  C  V  G  P  A  S  P  R  R  A  Q         p.140

          .         .         .         .         .         .       g.13251
 CCTCGCGTCCAAGTGGGACACAGACAGCTCCACACAGCCGGTGCACCGGTGCCGGAGAAA       c.480
 P  R  V  Q  V  G  H  R  Q  L  H  T  A  G  A  P  V  P  E  K         p.160

          . | 04       .         .         .         .         .    g.14561
 CCCAAGAGGG | GGCCAAGGGACAGGCTGAGCTACACAGCCCCTCCATCGTTTAAGGAGCAT    c.540
 P  K  R  G |   P  R  D  R  L  S  Y  T  A  P  P  S  F  K  E  H      p.180

          .         .         .         .        | 05.         .    g.15367
 GCGACAAATGAAAACAGAGGTGAAGTAGCCAGTAAACCCAGTGAACT | TGTTTCTGGTTCT    c.600
 A  T  N  E  N  R  G  E  V  A  S  K  P  S  E  L  |  V  S  G  S      p.200

          .         .         .         .         .         .       g.15427
 AACAGCATAATTTCTTTCAGCAGTGTCATAAGTATGGCTAAACCCATTGGTCTATGCATG       c.660
 N  S  I  I  S  F  S  S  V  I  S  M  A  K  P  I  G  L  C  M         p.220

          .         .         .         .         .         .       g.15487
 CCTAACAGTGCCCACATCATGGCCAGCAATACCATGCAAGTGGAAGAGCCACCCAAGTCT       c.720
 P  N  S  A  H  I  M  A  S  N  T  M  Q  V  E  E  P  P  K  S         p.240

          .         .         .         .         .         .       g.15547
 CCTGAGAAAATGTGGCCTAAAGATGAAAATTTTGAACAGAGAAGCTCATTGGAGTGTGCT       c.780
 P  E  K  M  W  P  K  D  E  N  F  E  Q  R  S  S  L  E  C  A         p.260

          .         . | 06       .         .         .         .    g.19794
 CAGAAGGCTGCAGAGCTTCG | AGCTTCCATTAAAGAGAAGGTAGAGCTGATTCGACTTAAG    c.840
 Q  K  A  A  E  L  R  |  A  S  I  K  E  K  V  E  L  I  R  L  K      p.280

          .         .         .         .         .         .       g.19854
 AAGCTCTTACATGAAAGAAATGCTTCATTGGTTATGACAAAAGCACAATTAACAGAAGTT       c.900
 K  L  L  H  E  R  N  A  S  L  V  M  T  K  A  Q  L  T  E  V         p.300

        | 07 .         .         . | 08       .         .         . g.23877
 CAAGAG | GCATACGAAACCTTGCTCCAGAAG | AATCAGGGAATCCTGAGTGCAGCCCATGAG c.960
 Q  E   | A  Y  E  T  L  L  Q  K   | N  Q  G  I  L  S  A  A  H  E   p.320

          .         .         .         .         .         .       g.23937
 GCCCTCCTCAAGCAAGTGAATGAGCTCAGGGCAGAGCTGAAGGAAGAAAGCAAGAAGGCT       c.1020
 A  L  L  K  Q  V  N  E  L  R  A  E  L  K  E  E  S  K  K  A         p.340

          .         .         .         .         .        | 09.    g.24459
 GTGAGCTTGAAGAGCCAACTGGAAGATGTGTCTATCTTGCAGATGACTCTGAAGGAG | TTT    c.1080
 V  S  L  K  S  Q  L  E  D  V  S  I  L  Q  M  T  L  K  E   | F      p.360

          .         .         .         .         .         .       g.24519
 CAGGAGAGAGTTGAAGATTTGGAAAAAGAACGAAAATTGCTGAATGACAATTATGACAAA       c.1140
 Q  E  R  V  E  D  L  E  K  E  R  K  L  L  N  D  N  Y  D  K         p.380

          .  | 10      .         .         .         .         .    g.29768
 CTCTTAGAAAG | CATGCTGGACAGCAGTGACAGCTCCAGTCAGCCCCACTGGAGCAACGAG    c.1200
 L  L  E  S  |  M  L  D  S  S  D  S  S  S  Q  P  H  W  S  N  E      p.400

          .         .         .         .         .         .       g.29828
 CTCATAGCGGAACAGCTACAGCAGCAAGTCTCTCAGCTGCAGGATCAGCTGGATGCTGAG       c.1260
 L  I  A  E  Q  L  Q  Q  Q  V  S  Q  L  Q  D  Q  L  D  A  E         p.420

          .         .         .         .       | 11 .         .    g.32054
 CTGGAGGACAAGAGAAAAGTTTTACTTGAGCTGTCCAGGGAGAAAG | CCCAAAATGAGGAT    c.1320
 L  E  D  K  R  K  V  L  L  E  L  S  R  E  K  A |   Q  N  E  D      p.440

          .         .         .         .         .         .       g.32114
 CTGAAGCTTGAAGTCACCAACATACTTCAGAAGCATAAACAGGAAGTAGAGCTCCTCCAA       c.1380
 L  K  L  E  V  T  N  I  L  Q  K  H  K  Q  E  V  E  L  L  Q         p.460

          .         .         .         .         .         .       g.32174
 AATGCAGCCACAATTTCCCAACCTCCTGACAGGCAATCTGAACCAGCCACTCACCCAGCT       c.1440
 N  A  A  T  I  S  Q  P  P  D  R  Q  S  E  P  A  T  H  P  A         p.480

          .         .        | 12.         .         .         .    g.33315
 GTATTGCAAGAGAACACTCAGATCGAG | CCAAGTGAACCCAAAAACCAAGAAGAAAAGAAA    c.1500
 V  L  Q  E  N  T  Q  I  E   | P  S  E  P  K  N  Q  E  E  K  K      p.500

          .         .         .         .         .         .       g.33375
 CTGTCCCAGGTGCTAAATGAGTTGCAAGTATCACACGCAGAGACCACATTGGAACTAGAA       c.1560
 L  S  Q  V  L  N  E  L  Q  V  S  H  A  E  T  T  L  E  L  E         p.520

          .         .         .         .         .  | 13      .    g.33886
 AAGACCAGGGACATGCTTATTCTGCAGCGCAAAATCAACGTGTGTTATCAG | GAGGAACTG    c.1620
 K  T  R  D  M  L  I  L  Q  R  K  I  N  V  C  Y  Q   | E  E  L      p.540

          .         .         .         .         .         .       g.33946
 GAGGCAATGATGACAAAAGCTGACAATGATAATAGAGATCACAAAGAAAAGCTGGAGAGG       c.1680
 E  A  M  M  T  K  A  D  N  D  N  R  D  H  K  E  K  L  E  R         p.560

          .         .         .         .         .         .       g.34006
 TTGACTCGACTACTAGACCTCAAGAATAACCGTATCAAGCAGCTGGAAGGTATTTTAAGA       c.1740
 L  T  R  L  L  D  L  K  N  N  R  I  K  Q  L  E  G  I  L  R         p.580

          .         .   | 14     .         .         .         .    g.36679
 AGCCATGACCTTCCAACATCTG | AACAGCTCAAAGATGTTGCTTATGGCACCCGACCGTTG    c.1800
 S  H  D  L  P  T  S  E |   Q  L  K  D  V  A  Y  G  T  R  P  L      p.600

          .         .         .         .         .         .       g.36739
 TCGTTATGTTTGGAAACACTGCCAGCCCATGGAGATGAGGATAAAGTGGATATTTCTCTG       c.1860
 S  L  C  L  E  T  L  P  A  H  G  D  E  D  K  V  D  I  S  L         p.620

          .         .         .         .         .         .       g.36799
 CTGCATCAGGGTGAGAATCTTTTTGAACTGCACATCCACCAGGCCTTCCTGACATCTGCC       c.1920
 L  H  Q  G  E  N  L  F  E  L  H  I  H  Q  A  F  L  T  S  A         p.640

          .         .         .         .         .         .       g.36859
 GCCCTAGCTCAGGCTGGAGATACCCAACCTACCACTTTCTGCACCTATTCCTTCTATGAC       c.1980
 A  L  A  Q  A  G  D  T  Q  P  T  T  F  C  T  Y  S  F  Y  D         p.660

          .         .         .         .         .         .       g.36919
 TTTGAAACCCACTGTACCCCATTATCTGTGGGGCCACAGCCCCTCTATGACTTCACCTCC       c.2040
 F  E  T  H  C  T  P  L  S  V  G  P  Q  P  L  Y  D  F  T  S         p.680

          .         .         .         .         .         .       g.36979
 CAGTATGTGATGGAGACAGATTCGCTTTTCTTACACTACCTTCAAGAGGCTTCAGCCCGG       c.2100
 Q  Y  V  M  E  T  D  S  L  F  L  H  Y  L  Q  E  A  S  A  R         p.700

          .         .         .         .         .         .       g.37039
 CTTGACATACACCAGGCCATGGCCAGTGAACACAGCACTCTTGCTGCAGGATGGATTTGC       c.2160
 L  D  I  H  Q  A  M  A  S  E  H  S  T  L  A  A  G  W  I  C         p.720

          .         .         .         .         .      | 15  .    g.37260
 TTTGACAGGGTGCTAGAGACTGTGGAGAAAGTCCATGGCTTGGCCACACTGATTG | GAGCT    c.2220
 F  D  R  V  L  E  T  V  E  K  V  H  G  L  A  T  L  I  G |   A      p.740

          .         .         .         .         .         .       g.37320
 GGTGGAGAAGAGTTCGGGGTTCTAGAGTACTGGATGAGGCTGCGTTTCCCCATAAAACCC       c.2280
 G  G  E  E  F  G  V  L  E  Y  W  M  R  L  R  F  P  I  K  P         p.760

          .         .         .         .         .         .       g.37380
 AGCCTACAGGCGTGCAATAAACGAAAGAAAGCCCAGGTCTACCTGTCAACCGATGTGCTT       c.2340
 S  L  Q  A  C  N  K  R  K  K  A  Q  V  Y  L  S  T  D  V  L         p.780

          .         .        | 16.         .         .         .    g.37887
 GGAGGCCGGAAGGCCCAGGAAGAGGAG | TTCAGATCGGAGTCTTGGGAACCTCAGAACGAG    c.2400
 G  G  R  K  A  Q  E  E  E   | F  R  S  E  S  W  E  P  Q  N  E      p.800

          .         .         .         .         .         .       g.37947
 CTGTGGATTGAAATCACCAAGTGCTGTGGCCTCCGGAGTCGATGGCTGGGAACTCAACCC       c.2460
 L  W  I  E  I  T  K  C  C  G  L  R  S  R  W  L  G  T  Q  P         p.820

          .         .         .         .         .         .       g.38007
 AGTCCATATGCTGTGTACCGCTTCTTCACCTTTTCTGACCATGACACTGCCATCATTCCA       c.2520
 S  P  Y  A  V  Y  R  F  F  T  F  S  D  H  D  T  A  I  I  P         p.840

          .         .         .         .         .         .       g.38067
 GCCAGTAACAACCCCTACTTTAGAGACCAGGCTCGATTCCCAGTGCTTGTGACCTCTGAC       c.2580
 A  S  N  N  P  Y  F  R  D  Q  A  R  F  P  V  L  V  T  S  D         p.860

          .         .         .         .         .         .       g.38127
 CTGGACCATTATCTGAGACGGGAGGCCTTGTCTATACATGTTTTTGATGATGAAGACTTA       c.2640
 L  D  H  Y  L  R  R  E  A  L  S  I  H  V  F  D  D  E  D  L         p.880

          .         .         .         .         .         .       g.38187
 GAGCCTGGCTCGTATCTTGGCCGAGCCCGAGTGCCTTTACTGCCTCTTGCAAAAAATGAA       c.2700
 E  P  G  S  Y  L  G  R  A  R  V  P  L  L  P  L  A  K  N  E         p.900

          . | 17       .         .         .         .         .    g.39696
 TCTATCAAAG | GTGATTTTAACCTCACTGACCCTGCAGAGAAACCCAACGGATCTATTCAA    c.2760
 S  I  K  G |   D  F  N  L  T  D  P  A  E  K  P  N  G  S  I  Q      p.920

          .         .         .         .         .         .       g.39756
 GTGCAACTGGATTGGAAGTTTCCCTACATACCCCCTGAGAGCTTCCTGAAACCAGAAGCT       c.2820
 V  Q  L  D  W  K  F  P  Y  I  P  P  E  S  F  L  K  P  E  A         p.940

          .         .         .         .         .         .       g.39816
 CAGACTAAGGGGAAGGATACCAAGGACAGTTCAAAGATCTCATCTGAAGAGGAAAAGGCT       c.2880
 Q  T  K  G  K  D  T  K  D  S  S  K  I  S  S  E  E  E  K  A         p.960

          .      | 18  .         .         .         .         .    g.40492
 TCATTTCCTTCCCAG | GATCAGATGGCATCTCCTGAGGTTCCCATTGAAGCTGGCCAGTAT    c.2940
 S  F  P  S  Q   | D  Q  M  A  S  P  E  V  P  I  E  A  G  Q  Y      p.980

          .         .         .         .         .         .       g.40552
 CGATCTAAGAGAAAACCTCCTCATGGGGGAGAAAGAAAGGAGAAGGAGCACCAGGTTGTG       c.3000
 R  S  K  R  K  P  P  H  G  G  E  R  K  E  K  E  H  Q  V  V         p.1000

          .         .         .         .         .         .       g.40612
 AGCTACTCAAGAAGAAAACATGGCAAAAGAATAGGTGTTCAAGGAAAGAATAGAATGGAG       c.3060
 S  Y  S  R  R  K  H  G  K  R  I  G  V  Q  G  K  N  R  M  E         p.1020

          .         .         .          | 19        .         .    g.42293
 TATCTTAGCCTTAACATCTTAAATGGAAATACACCAGAG | CAGGTGAATTACACTGAGTGG    c.3120
 Y  L  S  L  N  I  L  N  G  N  T  P  E   | Q  V  N  Y  T  E  W      p.1040

          .         .         .         .         .         .       g.42353
 AAGTTCTCAGAGACTAACAGCTTCATAGGTGATGGCTTTAAAAATCAGCACGAGGAAGAG       c.3180
 K  F  S  E  T  N  S  F  I  G  D  G  F  K  N  Q  H  E  E  E         p.1060

          .         .         .         .         .         | 20    g.46630
 GAAATGACATTATCCCATTCAGCACTGAAACAGAAGGAACCTCTACATCCTGTAAATG | AC    c.3240
 E  M  T  L  S  H  S  A  L  K  Q  K  E  P  L  H  P  V  N  D |       p.1080

          .         .         .         .         .         .       g.46690
 AAAGAATCCTCTGAACAAGGTTCTGAAGTCAGTGAAGCACAAACTACCGACAGTGATGAT       c.3300
 K  E  S  S  E  Q  G  S  E  V  S  E  A  Q  T  T  D  S  D  D         p.1100

          .         .         .          | 21        .         .    g.55080
 GTCATAGTGCCACCCATGTCTCAGAAATATCCTAAGGCA | GATTCAGAGAAGATGTGCATT    c.3360
 V  I  V  P  P  M  S  Q  K  Y  P  K  A   | D  S  E  K  M  C  I      p.1120

          .         .         .         .         .         .       g.55140
 GAAATTGTCTCCCTGGCCTTCTACCCAGAGGCAGAAGTGATGTCTGATGAGAACATAAAA       c.3420
 E  I  V  S  L  A  F  Y  P  E  A  E  V  M  S  D  E  N  I  K         p.1140

          .         .         .         .         .         .       g.55200
 CAGGTGTATGTGGAGTACAAATTCTACGACCTACCCTTGTCGGAGACAGAGACTCCAGTG       c.3480
 Q  V  Y  V  E  Y  K  F  Y  D  L  P  L  S  E  T  E  T  P  V         p.1160

          .         .         .         .         .   | 22     .    g.57144
 TCCCTAAGGAAGCCTAGGGCAGGAGAAGAAATCCACTTTCACTTTAGCAAGG | TAATAGAC    c.3540
 S  L  R  K  P  R  A  G  E  E  I  H  F  H  F  S  K  V |   I  D      p.1180

          .         .         .         .         .         .       g.57204
 CTGGACCCACAGGAGCAGCAAGGCCGAAGGCGGTTTCTGTTCGACATGCTGAATGGACAA       c.3600
 L  D  P  Q  E  Q  Q  G  R  R  R  F  L  F  D  M  L  N  G  Q         p.1200

          .        | 23.         .         .         .         .    g.60238
 GATCCTGATCAAGGACA | TTTAAAGTTTACAGTGGTAAGTGATCCTCTGGATGAAGAAAAG    c.3660
 D  P  D  Q  G  H  |  L  K  F  T  V  V  S  D  P  L  D  E  E  K      p.1220

          .         .         .         .         .         .       g.60298
 AAAGAATGTGAAGAAGTGGGATATGCATATCTTCAACTGTGGCAGATCCTGGAGTCAGGA       c.3720
 K  E  C  E  E  V  G  Y  A  Y  L  Q  L  W  Q  I  L  E  S  G         p.1240

          .         .         | 24         .         .         .    g.63159
 AGAGATATTCTAGAGCAAGAGCTAGACA | TTGTTAGCCCTGAAGATCTGGCTACCCCAATA    c.3780
 R  D  I  L  E  Q  E  L  D  I |   V  S  P  E  D  L  A  T  P  I      p.1260

          .         .         .         .         .         .       g.63219
 GGAAGGCTGAAGGTTTCCCTTCAAGCAGCTGCTGTCCTCCATGCTATTTACAAGGAGATG       c.3840
 G  R  L  K  V  S  L  Q  A  A  A  V  L  H  A  I  Y  K  E  M         p.1280

          .         .                                               g.63240
 ACTGAAGATTTGTTTTCATGA                                              c.3861
 T  E  D  L  F  S  X                                                p.1286

          .         .         .         .         .         .       g.63300
 aggaacaagtgctattccaatctaaaagtctctgagggaaccatagtaaaaagtctctta       c.*60

          .         .                                               g.63325
 taaagttagcttgctataacatgaa                                          c.*85

 (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 Retinitis pigmentosa GTPase regulator interacting protein 1 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift 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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