gap junction protein, beta 4, 30.3kDa (GJB4) - coding DNA reference sequence

(used for variant description)

(last modified December 2, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_153212.2 in the GJB4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016243.1, covering GJB4 transcript NM_153212.2.

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

 (upstream sequence)
                                                   .                g.5010
                                                   aaacagacaa       c.-361

 .         .         .         .        | 02.         .             g.6214
 gcccaaggacaaggaagcagctactggacccaagaagg | aataaggtagaccctgattttg    c.-301

 .         .         .         .         .         .                g.6274
 gaacctgaagaccaaagtgcaagattagctctgctacttccatctgtggaccattgggca       c.-241

 .         .         .         .         .         .                g.6334
 ggtatctctgggccttcacttactctttgtgaaatgaggacaggggcaatccctacccta       c.-181

 .         .         .         .         .         .                g.6394
 ccaagtcattgggagtgaagacatgatgacacggtgattgtgaaaagattttgtcaatcg       c.-121

 .         .         .         .         .         .                g.6454
 caccagcattaagggtgcccatctccaggttcccccaggcctcaaggctcccaaggcctg       c.-61

 .         .         .         .         .         .                g.6514
 agtgggcaggtagcacccaggtatagaccttccacgtgcagcacccaggacacagccagc       c.-1

          .         .         .         .         .         .       g.6574
 ATGAACTGGGCATTTCTGCAGGGCCTGCTGAGTGGCGTGAACAAGTACTCCACAGTGCTG       c.60
 M  N  W  A  F  L  Q  G  L  L  S  G  V  N  K  Y  S  T  V  L         p.20

          .         .         .         .         .         .       g.6634
 AGCCGCATCTGGCTGTCTGTGGTGTTCATCTTTCGTGTGCTGGTGTACGTGGTGGCAGCG       c.120
 S  R  I  W  L  S  V  V  F  I  F  R  V  L  V  Y  V  V  A  A         p.40

          .         .         .         .         .         .       g.6694
 GAGGAGGTGTGGGACGATGAGCAGAAGGACTTTGTCTGCAACACCAAGCAGCCCGGCTGC       c.180
 E  E  V  W  D  D  E  Q  K  D  F  V  C  N  T  K  Q  P  G  C         p.60

          .         .         .         .         .         .       g.6754
 CCCAACGTCTGCTATGACGAGTTCTTCCCCGTGTCCCACGTGCGCCTCTGGGCCCTACAG       c.240
 P  N  V  C  Y  D  E  F  F  P  V  S  H  V  R  L  W  A  L  Q         p.80

          .         .         .         .         .         .       g.6814
 CTCATCCTGGTCACGTGCCCCTCACTGCTCGTGGTCATGCACGTGGCCTACCGCGAGGAA       c.300
 L  I  L  V  T  C  P  S  L  L  V  V  M  H  V  A  Y  R  E  E         p.100

          .         .         .         .         .         .       g.6874
 CGCGAGCGCAAGCACCACCTGAAACACGGGCCCAATGCCCCGTCCCTGTACGACAACCTG       c.360
 R  E  R  K  H  H  L  K  H  G  P  N  A  P  S  L  Y  D  N  L         p.120

          .         .         .         .         .         .       g.6934
 AGCAAGAAGCGGGGCGGACTGTGGTGGACGTACTTGCTGAGCCTCATCTTCAAGGCCGCC       c.420
 S  K  K  R  G  G  L  W  W  T  Y  L  L  S  L  I  F  K  A  A         p.140

          .         .         .         .         .         .       g.6994
 GTGGATGCTGGCTTCCTCTATATCTTCCACCGCCTCTACAAGGATTATGACATGCCCCGC       c.480
 V  D  A  G  F  L  Y  I  F  H  R  L  Y  K  D  Y  D  M  P  R         p.160

          .         .         .         .         .         .       g.7054
 GTGGTGGCCTGCTCCGTGGAGCCTTGCCCCCACACTGTGGACTGTTACATCTCCCGGCCC       c.540
 V  V  A  C  S  V  E  P  C  P  H  T  V  D  C  Y  I  S  R  P         p.180

          .         .         .         .         .         .       g.7114
 ACGGAGAAGAAGGTCTTCACCTACTTCATGGTGACCACAGCTGCCATCTGCATCCTGCTC       c.600
 T  E  K  K  V  F  T  Y  F  M  V  T  T  A  A  I  C  I  L  L         p.200

          .         .         .         .         .         .       g.7174
 AACCTCAGTGAAGTCTTCTACCTGGTGGGCAAGAGGTGCATGGAGATCTTCGGCCCCAGG       c.660
 N  L  S  E  V  F  Y  L  V  G  K  R  C  M  E  I  F  G  P  R         p.220

          .         .         .         .         .         .       g.7234
 CACCGGCGGCCTCGGTGCCGGGAATGCCTACCCGATACGTGCCCACCATATGTCCTCTCC       c.720
 H  R  R  P  R  C  R  E  C  L  P  D  T  C  P  P  Y  V  L  S         p.240

          .         .         .         .         .         .       g.7294
 CAGGGAGGGCACCCTGAGGATGGGAACTCTGTCCTAATGAAGGCTGGGTCGGCCCCAGTG       c.780
 Q  G  G  H  P  E  D  G  N  S  V  L  M  K  A  G  S  A  P  V         p.260

          .         .                                               g.7315
 GATGCAGGTGGGTATCCATAA                                              c.801
 D  A  G  G  Y  P  X                                                p.266

          .         .         .         .         .         .       g.7375
 cctgcgagatcagcagataagatcaacaggtcccccccacatgaggccacccaggaaaaa       c.*60

          .         .         .         .         .         .       g.7435
 aggcaggggcagtggcatccttgccgtagcagggtggtgaggagggtggctgtgggggct       c.*120

          .         .         .         .         .         .       g.7495
 caggaagctcgcccaggggccaatgtgggaggttgggggtagtttggtccctgggtcctg       c.*180

          .         .         .         .         .         .       g.7555
 agcctcaggggagggaggttgatagctactggggattttgtatatggcaacagtatatgt       c.*240

          .         .         .         .         .         .       g.7615
 caaacctcttaataaatatgattttcccagtactttgcagaccaggtggggagtggccga       c.*300

          .         .         .         .         .         .       g.7675
 taggaaaacggggggcaggggggattaggtggacctcagagaggatgccaagactactca       c.*360

          .         .         .         .         .         .       g.7735
 gtgagcacctgagcactggaacctcagatccaggctcacccatcaccccccaacacacac       c.*420

          .         .         .         .         .         .       g.7795
 agtgtgtgcccccagaacatgatgggctgtgcccaaaggcagaggctactccaggggcct       c.*480

          .         .         .         .         .         .       g.7855
 ctgggttgtgcaaccacctggccaaagcaggaggagaggaattccaggagaccctgtgcc       c.*540

          .         .         .         .         .         .       g.7915
 cagcaggagtcagttctcagtgatcgtccatcacaggaatgagcgtgggttgggcctccc       c.*600

          .         .         .         .         .         .       g.7975
 tagccctgcccagcacaggtcccggataggtgagtcccctctgacggtgggagggtcacg       c.*660

          .         .         .         .         .         .       g.8035
 gctgagagcaagccagggatgggaatctgtcaaggtgcccaagaggcacatcctacaggc       c.*720

          .         .         .         .         .         .       g.8095
 cagggcccactgagagtgtctgagctgaaaggtcccttgtggatcctggagtctatggaa       c.*780

          .         .         .         .         .         .       g.8155
 tttcatgttctttttcactgatacaacttccccatcccatactcccccaccccaccacca       c.*840

          .         .         .         .         .         .       g.8215
 ctcagactttggcaactcccagaaccacacctccaccctaacatgcctctgagtcccacc       c.*900

          .         .         .         .         .         .       g.8275
 aaatgcccactagacaattccctgggaggcccccaggcatctcatacccgccactcccaa       c.*960

          .         .         .         .         .         .       g.8335
 gctgacctcatcagctcacccagacctgcccccttgaagatgccccaccccatctcatgc       c.*1020

          .         .         .         .         .         .       g.8395
 aggacacagctattcacccagctgcccaagccaggggacgagacaagcctgacatccttg       c.*1080

          .         .         .         .         .         .       g.8455
 tccctcacaccccacacccccactggcaccaaatcccactgattccagtccctaaatgcc       c.*1140

          .         .         .         .         .         .       g.8515
 acctgaatctgctcttcctctccttacaacaacctaactacctcctggacctcccccatc       c.*1200

          .         .         .         .         .         .       g.8575
 tgccctccgctacagggatggagtgatttatctgtctatgcaactgaccatgtcattcca       c.*1260

          .         .         .         .         .         .       g.8635
 cctgctttaaaatttcttccaccatcaccagccccatgccctcagcatggcccccgctga       c.*1320

          .         .         .         .         .         .       g.8695
 cctccccacctcatcccagcttcctccccttttctacctgcaagtaataccaaagggctc       c.*1380

          .         .         .         .         .         .       g.8755
 ctggttccccaggcagacacgtcatgtggtgtcattcctcgtgcctttgtcatgctattt       c.*1440

          .         .         .         .         .         .       g.8815
 cctctggctagaatgcccttcccaccccctctgtgatcctccctcgaacctctaggacag       c.*1500

          .         .         .         .         .         .       g.8875
 ctttacccatctctctaagtgccagcctcgcttgtccctctgccactctccccaaatcgg       c.*1560

          .         .         .         .         .         .       g.8935
 aattgtcacttcccctgagtgtctccctatcagtctgtgagcccttaatgggcaggtcac       c.*1620

          .         .         .         .                           g.8984
 tgagtcatccaggtccctgctgccttcaataaatgcttgttagatgagt                  c.*1669

 (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 Gap junction protein, beta 4, 30.3kDa 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.