guanylate cyclase activator 1B (retina) (GUCA1B) - 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_002098.5 in the GUCA1B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016216.1, covering GUCA1B transcript NM_002098.5.

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

 (upstream sequence)
                                                   .                g.5016
                                             agtcacccaggagatg       c.-121

 .         .         .         .         .         .                g.5076
 atggagaggctgatcaggcctcctggaaagggaggaagagggccctagttggagagatcc       c.-61

 .         .         .         .         .         .                g.5136
 atcagcagaagccagggaggagatacagacccttgctccctgacgctcctcagggctagc       c.-1

          .         .         .         .         .         .       g.5196
 ATGGGGCAGGAGTTTAGCTGGGAGGAGGCGGAGGCAGCTGGCGAGATAGATGTGGCGGAG       c.60
 M  G  Q  E  F  S  W  E  E  A  E  A  A  G  E  I  D  V  A  E         p.20

          .         .         .         .         .         .       g.5256
 CTCCAGGAGTGGTACAAGAAGTTTGTGATGGAGTGCCCCAGCGGCACACTCTTTATGCAT       c.120
 L  Q  E  W  Y  K  K  F  V  M  E  C  P  S  G  T  L  F  M  H         p.40

          .         .         .         .         .         .       g.5316
 GAGTTTAAGCGCTTCTTCAAGGTCACAGACGATGAGGAGGCCTCCCAGTATGTAGAGGGC       c.180
 E  F  K  R  F  F  K  V  T  D  D  E  E  A  S  Q  Y  V  E  G         p.60

          .         .        | 02.         .         .         .    g.11258
 ATGTTCCGAGCCTTCGACAAGAATGGG | GACAACACCATCGACTTCCTGGAGTACGTGGCA    c.240
 M  F  R  A  F  D  K  N  G   | D  N  T  I  D  F  L  E  Y  V  A      p.80

          .         .         .         .         .         .       g.11318
 GCTCTGAATCTCGTGCTGAGGGGCACCCTGGAGCACAAGCTGAAGTGGACATTCAAGATC       c.300
 A  L  N  L  V  L  R  G  T  L  E  H  K  L  K  W  T  F  K  I         p.100

          .         .         .         .         .        | 03.    g.14162
 TATGATAAGGATGGCAATGGCTGCATCGACCGCCTGGAGCTACTCAACATTGTGGAG | GGA    c.360
 Y  D  K  D  G  N  G  C  I  D  R  L  E  L  L  N  I  V  E   | G      p.120

          .         .         .         .         .         .       g.14222
 ATTTACCAGCTGAAGAAAGCCTGCCGGCGAGAGCTACAAACTGAGCAAGGCCAGCTGCTC       c.420
 I  Y  Q  L  K  K  A  C  R  R  E  L  Q  T  E  Q  G  Q  L  L         p.140

          .         .         .         .         .      | 04  .    g.15019
 ACACCCGAGGAGGTCGTGGACAGGATCTTCCTCCTGGTGGATGAGAATGGAGATG | GCCAG    c.480
 T  P  E  E  V  V  D  R  I  F  L  L  V  D  E  N  G  D  G |   Q      p.160

          .         .         .         .         .         .       g.15079
 CTGTCTCTGAACGAGTTTGTTGAAGGTGCCCGTCGGGACAAGTGGGTGATGAAGATGCTG       c.540
 L  S  L  N  E  F  V  E  G  A  R  R  D  K  W  V  M  K  M  L         p.180

          .         .         .         .         .         .       g.15139
 CAGATGGACATGAATCCCAGCAGCTGGCTCGCTCAGCAGAGACGGAAAAGTGCCATGTTC       c.600
 Q  M  D  M  N  P  S  S  W  L  A  Q  Q  R  R  K  S  A  M  F         p.200

                                                                    g.15142
 TGA                                                                c.603
 X                                                                  p.200

          .         .         .         .         .         .       g.15202
 ggagtctggggcccctccacgactccaggctcacccaggtttccagggtagtaggagggt       c.*60

          .         .         .         .         .         .       g.15262
 ccctggctcagcctgctcatgcccactcttcccctggtgttgacttcctggcaccccctg       c.*120

          .         .         .         .         .         .       g.15322
 tgcagggctgagtggggatggggaagggctgctgggtttgaagtggccaacagggcatag       c.*180

          .         .         .         .         .         .       g.15382
 tccattttggaggagtccctgggatggtgaagggaattcagttacttttcctgttcagcc       c.*240

          .         .         .         .         .         .       g.15442
 gctcctgggaggactgtgccttggctgggtggttgtggggctcccacagtttctgggtgt       c.*300

          .         .         .         .         .         .       g.15502
 tctcagttggaagcaagagccaactgaggggtgagggtcccacagaccaaatcagaaatg       c.*360

          .         .         .         .         .         .       g.15562
 agaacacaaagactggtaggaggcaggggtgggagggtgttgagactgaagaaaaggcag       c.*420

          .         .         .         .         .         .       g.15622
 gagttgccgggcacggtggctcacgcctgtaatcccagcactttgggaggccgaggcggg       c.*480

          .         .         .         .         .         .       g.15682
 cagatcacgaggtcaggagatcgagaccatcctggctaacacggggtgaaaccccgtctc       c.*540

          .         .         .         .         .         .       g.15742
 tactaaaaatacaaaaaatcagccgggtgaggtggcgggcgcctgtagtcccagctactc       c.*600

          .         .         .         .         .         .       g.15802
 aggaggctgaggcaagagaatggcgtgaaccccagggggccgagcctacagtgagccgag       c.*660

          .         .         .         .         .         .       g.15862
 attgcgccactgcactccagcctggacgacagtgagactccgtctcaaaaaaaaaaaaag       c.*720

          .         .         .         .         .         .       g.15922
 aaagaaaagaaaaggcaggagttttggggggcagggggcagcaataattctataacttcc       c.*780

          .         .         .         .         .         .       g.15982
 gggatgctgaggggcgttcatggggaggaccctggcctcctcctccccaaggcatcctca       c.*840

          .         .         .         .         .         .       g.16042
 ccagtggtgtcaacaggaaaaatggcagcaaatacgctgcaggctgtggtctttctgcct       c.*900

          .         .         .         .         .         .       g.16102
 ttgaaagggtcagctgtacttaaagggactgtttcagctctgcctgggtgctgctctggg       c.*960

          .         .         .         .         .         .       g.16162
 accccctgctgccaacccaccactcccccaacaatcctctctttccatccatatccccca       c.*1020

          .         .         .         .         .         .       g.16222
 gtatggaccttccacaactcccagccataagctgaatgtttctctttaaaggatggagaa       c.*1080

          .         .         .         .         .         .       g.16282
 aacttctgtctgtctctggcaagaattgggggactgttgactgggattgtgggctgggct       c.*1140

          .         .         .         .         .         .       g.16342
 tggcttctaactgctgtgtgacccaagacagccacttctcctccctaaccttggttatgt       c.*1200

          .         .         .         .         .         .       g.16402
 cttggcagcacagtgagcaggtcggactaggcgaacagttttggattattgtgtttttag       c.*1260

          .         .         .         .         .         .       g.16462
 atgtggaattattttttgttatataaactcttatgtgtaaccccaatatagaaactagat       c.*1320

          .         .         .         .         .         .       g.16522
 taaaagggagtctctctggttgaaaggggagctgagtaccctctggaactggaggcacct       c.*1380

          .         .         .         .         .         .       g.16582
 ctgaaaaaagcaaactgaaaaccagtgccctgggtcactgttactcctataagacagttt       c.*1440

          .         .         .         .         .         .       g.16642
 aaagtgagacctggaaaaacatttgctttaccttgaatagataggtttttatgttggtat       c.*1500

          .         .         .                                     g.16673
 ataagaaataaaactaacctattaaacctga                                    c.*1531

 (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 Guanylate cyclase activator 1B (retina) 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.