receptor accessory protein 1 (REEP1) - coding DNA reference sequence

(used for variant description)

(last modified June 15, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_022912.2 in the REEP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_013037.1, covering REEP1 transcript NM_022912.2.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                         .         .                g.5453
                                     aacgccgggcagggcggcgggcgc       c.-121

 .         .         .         .         .         .                g.5513
 gctcagtctggcggcggctgccgtgagctgactgacgttccgggaacgccgcagcagccc       c.-61

 .         .         .         .         .         .                g.5573
 gcgccgcccgcagcctagccgagccgcgccgcccgggcctcgcccgcccgcctgcccgcc       c.-1

          .         .         .   | 02     .         .         .    g.60869
 ATGGTGTCATGGATCATCTCCAGGCTGGTGGT | GCTTATATTTGGCACCCTTTACCCTGCG    c.60
 M  V  S  W  I  I  S  R  L  V  V  |  L  I  F  G  T  L  Y  P  A      p.20

          .         .         .         .      | 03  .         .    g.79057
 TATTATTCCTACAAGGCTGTGAAATCAAAGGACATTAAGGAATAT | GTCAAATGGATGATG    c.120
 Y  Y  S  Y  K  A  V  K  S  K  D  I  K  E  Y   | V  K  W  M  M      p.40

          .         .         .         .         .         .       g.79117
 TACTGGATTATATTTGCACTTTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGT       c.180
 Y  W  I  I  F  A  L  F  T  T  A  E  T  F  T  D  I  F  L  C         p.60

    | 04     .         .         .         .         .         .    g.88327
 TG | GTTTCCATTCTATTATGAACTAAAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTAC    c.240
 W  |  F  P  F  Y  Y  E  L  K  I  A  F  V  A  W  L  L  S  P  Y      p.80

          .         .         .         .         .         .       g.88387
 ACAAAAGGCTCCAGCCTCCTGTACAGGAAGTTTGTACATCCCACGCTATCTTCAAAAGAA       c.300
 T  K  G  S  S  L  L  Y  R  K  F  V  H  P  T  L  S  S  K  E         p.100

     | 05    .         .         .         .         .         .    g.91070
 AAG | GAAATCGATGATTGTCTGGTCCAAGCAAAAGACCGAAGTTACGATGCCCTTGTGCAC    c.360
 K   | E  I  D  D  C  L  V  Q  A  K  D  R  S  Y  D  A  L  V  H      p.120

          .         .         .         .         .        | 06.    g.110284
 TTCGGGAAGCGGGGCTTGAACGTGGCCGCCACAGCGGCTGTGATGGCTGCTTCCAAG | GGA    c.420
 F  G  K  R  G  L  N  V  A  A  T  A  A  V  M  A  A  S  K   | G      p.140

          .         .         .         .         .         .       g.110344
 CAGGGTGCCTTATCGGAGAGACTGCGGAGCTTCAGCATGCAGGACCTCACCACCATCAGG       c.480
 Q  G  A  L  S  E  R  L  R  S  F  S  M  Q  D  L  T  T  I  R         p.160

          .         .         .         .         .         .       g.110404
 GGAGACGGCGCCCCTGCTCCCTCGGGCCCCCCACCACCGGGGTCTGGGCGGGCCAGCGGC       c.540
 G  D  G  A  P  A  P  S  G  P  P  P  P  G  S  G  R  A  S  G         p.180

          .         .         .         .         .      | 07  .    g.125978
 AAACACGGCCAGCCTAAGATGTCCAGGAGTGCTTCTGAGAGCGCTAGCAGCTCAG | GCACC    c.600
 K  H  G  Q  P  K  M  S  R  S  A  S  E  S  A  S  S  S  G |   T      p.200

                                                                    g.125984
 GCCTAG                                                             c.606
 A  X                                                               p.201

          .         .         .         .         .         .       g.126044
 aatccttcgatctcgcttcaggaagaaaagtacctcatcctcggccaccgaaaccacgtg       c.*60

          .         .         .         .         .         .       g.126104
 agtgagatgagccaacagcaccggatccacagaatgtttcttctctgccttaaagagcta       c.*120

          .         .         .         .         .         .       g.126164
 ttcactaataacatagaaatccgcaagctgggtgtgctttgagtgtgcagcctcacaaac       c.*180

          .         .         .         .         .         .       g.126224
 atggccttttctctctccccttccacttttaaggatttatttttttcccccttttcttta       c.*240

          .         .         .         .         .         .       g.126284
 ttttgctggggagaggctaaagggaaaggtagtaggggcgggggtggtgacctttaagtc       c.*300

          .         .         .         .         .         .       g.126344
 ttctgaggttggtaattttccacaattggattgtcattatagacagcagtgtgtttttta       c.*360

          .         .         .         .         .         .       g.126404
 gaaagataagagaatcacccctatgctgctgagatgtacatttgtaatttatctgttgca       c.*420

          .         .         .         .         .         .       g.126464
 tacttagtttttagtcctgtaaatgcaaacacagcattttttacaactttctttgttctt       c.*480

          .         .         .         .         .         .       g.126524
 ggtacttatactttgaactatgatgtacatatttatggcttttggcttttaatataatgg       c.*540

          .         .         .         .         .         .       g.126584
 acttgcaagggctgccagaggttctgatatgtaagaaaactgcaaaaacaaatatagaca       c.*600

          .         .         .         .         .         .       g.126644
 aatattttgattctagagaacgtctcagatgtgcttataaagcttccaaatacaactcca       c.*660

          .         .         .         .         .         .       g.126704
 gtaagacatccctttccctgcaggagtgtggtctatattctttagatagttgtttagtca       c.*720

          .         .         .         .         .         .       g.126764
 aaagaccagacaagttacaaactaagagaaacaatatttcacaacacagtaaagtgtgat       c.*780

          .         .         .         .         .         .       g.126824
 gagaggtcaggggaacatcccagtaaaagagaagagtcacaggaagctcatctcctccct       c.*840

          .         .         .         .         .         .       g.126884
 ggattctggattaggagcttctgaatcttttccagggataggcaggtagctcactcttgg       c.*900

          .         .         .         .         .         .       g.126944
 tgcaatttcttgaggatgggaacatgtagagctgctggaaggagtaattctgtgcttgac       c.*960

          .         .         .         .         .         .       g.127004
 aaaggacgatttctcctttatcgtgaccagtgctgccgatttcctgacagaggagcttac       c.*1020

          .         .         .         .         .         .       g.127064
 actctgagcaccttgttttagcgaactctagcaaaacttgtttagcttagcaaaaacaaa       c.*1080

          .         .         .         .         .         .       g.127124
 cacacaaaaaactgagaactctgctgtttcagatatgccataacatacatctgaaacaca       c.*1140

          .         .         .         .         .         .       g.127184
 tgtgtaacaatcaaaatggtgggctctagaatggttttggagctcgagatcttcatgggt       c.*1200

          .         .         .         .         .         .       g.127244
 tagacttgctggtcagacccaggagcacctgtggctcacaccttctgttcccctcctggc       c.*1260

          .         .         .         .         .         .       g.127304
 ctgtgcagaatgtaaacagcagactcatactcaatgggcactacaggccttatcagacgt       c.*1320

          .         .         .         .         .         .       g.127364
 tttatacaagcctggattgcttagtaggggaataaggcattctctgagggggctttccac       c.*1380

          .         .         .         .         .         .       g.127424
 ttagattgagaattttatttgaaaagaatctggtttaaatggcattgtggtccgaggtag       c.*1440

          .         .         .         .         .         .       g.127484
 ctgctctccccactgagagctgagccgaaatataagaataatatatttgtgcttcgagtt       c.*1500

          .         .         .         .         .         .       g.127544
 ggtgtttctttcagtgtaatgcatgcagtggtcacaacccagttactcataatatttgga       c.*1560

          .         .         .         .         .         .       g.127604
 ttgtatttgttcgtagatatgcccagaagactagagaattagtgttatataccatataga       c.*1620

          .         .         .         .         .         .       g.127664
 acttactgtcagtcaactataaacaggcccaattaaaaactgttccattactacgcaaac       c.*1680

          .         .         .         .         .         .       g.127724
 acatattagaggcctttgctgatgacacattagctggatcttagccaccccagaaagggt       c.*1740

          .         .         .         .         .         .       g.127784
 ttgatttgaagctgattgttgccagatatgcatattggaatcccatctacccatagttcc       c.*1800

          .         .         .         .         .         .       g.127844
 tctgaaggtgattttgtaatttgcaaaagggtataggaaaatatacctaaaagcgaattt       c.*1860

          .         .         .         .         .         .       g.127904
 gtggctgagaggataaacagaagctgtttgctcatgttctgtgccccacacccaccaata       c.*1920

          .         .         .         .         .         .       g.127964
 cctaaatctgttaaggaagacagaaaatgttttctttgtgctcattgagtagttccagac       c.*1980

          .         .         .         .         .         .       g.128024
 agaagaagaatatactctttaaaatgtatttacctgttagttggaagtacccagaattat       c.*2040

          .         .         .         .         .         .       g.128084
 cagaaacgaatgcaaaaaaaaaaaaaaaaaaaaaaagcttacacagcttcttagcaattt       c.*2100

          .         .         .         .         .         .       g.128144
 ttttttttttgccgaaacaataaattgcctttagcagcagtttaaaatcctatcgtgaac       c.*2160

          .         .         .         .         .         .       g.128204
 aacctatattttcgccattttacaatggagagttgtgacaagtacaggttatcaagtttg       c.*2220

          .         .         .         .         .         .       g.128264
 cacttaactatgccaaaaaaagtttgaagcgctctattctcagacatgctgtattattac       c.*2280

          .         .         .         .         .         .       g.128324
 ttctcattcaagattgaaaaatataaaggtatccaaactctgtcttaatgtaaatgtaac       c.*2340

          .         .         .         .         .         .       g.128384
 tatttttccttcaagtgttgactagggagtcggtttctctcttaaagacactcactgtac       c.*2400

          .         .         .         .         .         .       g.128444
 aactgaaagcagctgtcatatttctggcaaaatgtgtttacgtatctgacaagttgtaca       c.*2460

          .         .         .         .         .         .       g.128504
 tttgtgtatgaactgacataaaatgtgaaagcctgtaagtgtacatgtagtggtgtggtg       c.*2520

          .         .         .         .         .         .       g.128564
 ttctgtctagaggatacaactgaatgtttttaatttgctgacttacagacacaggctgtt       c.*2580

          .         .         .         .         .         .       g.128624
 tacaaaatgctagctggaaagtctgtaatgttcatgtcataacttttagttaattgccat       c.*2640

          .         .         .         .         .         .       g.128684
 tgagcacctgttctgaggaggtgagatgtggacttgtgcttataaactggagagtttagt       c.*2700

          .         .         .         .         .         .       g.128744
 cataatccctcctggctttgtgtgaatagcttgctcactttgctggcctttgaaatgtgt       c.*2760

          .         .         .         .         .         .       g.128804
 tctccgtgataagctatccatgtgtttgtgataagagtgcttgtcaaccatgaccatctt       c.*2820

          .         .         .         .         .         .       g.128864
 tgagccttcctagtcctccacctggcacagtatttgaaatggcaaaggatgtgcttcatc       c.*2880

          .         .         .         .         .         .       g.128924
 ctctaacagtgtacactcccagagctgatattctggattttgactgtgcacatttcctct       c.*2940

          .         .         .         .         .         .       g.128984
 agttcatgtctgtagtccctatagaatgatctgtaataaaatagtatactggactgtgca       c.*3000

          .         .         .         .         .         .       g.129044
 tcaaagggatgtaaaattacagtattccaaaggttgaagttctgctgttttgttataatg       c.*3060

          .         .         .         .                           g.129091
 cctgatacacatcttgaataaagtcttaacatttttcttttaaaaaa                    c.*3107

 (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 10^th nucleotide is indicated by a "." above the sequence. The Receptor accessory 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 10^th 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.