gap junction protein, alpha 8, 50kDa (GJA8) - coding DNA reference sequence

(used for variant description)

(last modified November 20, 2020)

This file was created to facilitate the description of sequence variants on transcript NM_005267.4 in the GJA8 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016242.1, covering GJA8 transcript NM_005267.4.

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

 (upstream sequence)
           .         .         .         .         | 02             g.10137
        gagaaagagcacatatttctccgtgggacactccttgtattg | gtgggtgagaa    c.-1

          .         .         .         .         .         .       g.10197
 ATGGGCGACTGGAGTTTCCTGGGGAACATCTTGGAGGAGGTGAATGAGCACTCCACCGTC       c.60
 M  G  D  W  S  F  L  G  N  I  L  E  E  V  N  E  H  S  T  V         p.20

          .         .         .         .         .         .       g.10257
 ATCGGCAGAGTCTGGCTCACCGTGCTTTTCATCTTCCGGATCCTCATCCTTGGCACGGCC       c.120
 I  G  R  V  W  L  T  V  L  F  I  F  R  I  L  I  L  G  T  A         p.40

          .         .         .         .         .         .       g.10317
 GCAGAGTTCGTGTGGGGGGATGAGCAATCCGACTTCGTGTGCAACACCCAGCAGCCTGGC       c.180
 A  E  F  V  W  G  D  E  Q  S  D  F  V  C  N  T  Q  Q  P  G         p.60

          .         .         .         .         .         .       g.10377
 TGCGAGAACGTCTGCTACGACGAGGCCTTTCCCATCTCCCACATTCGCCTCTGGGTGCTG       c.240
 C  E  N  V  C  Y  D  E  A  F  P  I  S  H  I  R  L  W  V  L         p.80

          .         .         .         .         .         .       g.10437
 CAGATCATCTTCGTCTCCACCCCGTCCCTGATGTACGTGGGGCACGCGGTGCACTACGTC       c.300
 Q  I  I  F  V  S  T  P  S  L  M  Y  V  G  H  A  V  H  Y  V         p.100

          .         .         .         .         .         .       g.10497
 CGCATGGAGGAGAAGCGCAAAAGCCGCGAGGCGGAGGAGCTGGGCCAGCAGGCGGGGACT       c.360
 R  M  E  E  K  R  K  S  R  E  A  E  E  L  G  Q  Q  A  G  T         p.120

          .         .         .         .         .         .       g.10557
 AACGGCGGCCCGGACCAGGGCAGCGTCAAGAAGAGCAGCGGCAGCAAAGGCACTAAGAAG       c.420
 N  G  G  P  D  Q  G  S  V  K  K  S  S  G  S  K  G  T  K  K         p.140

          .         .         .         .         .         .       g.10617
 TTCCGGCTGGAGGGGACCCTGCTGAGGACCTACATCTGCCACATCATCTTCAAGACCCTC       c.480
 F  R  L  E  G  T  L  L  R  T  Y  I  C  H  I  I  F  K  T  L         p.160

          .         .         .         .         .         .       g.10677
 TTTGAAGTGGGCTTCATCGTGGGCCACTACTTCCTGTACGGGTTCCGGATCCTGCCTCTG       c.540
 F  E  V  G  F  I  V  G  H  Y  F  L  Y  G  F  R  I  L  P  L         p.180

          .         .         .         .         .         .       g.10737
 TACCGCTGCAGCCGGTGGCCCTGCCCCAATGTGGTGGACTGCTTCGTGTCCCGGCCCACG       c.600
 Y  R  C  S  R  W  P  C  P  N  V  V  D  C  F  V  S  R  P  T         p.200

          .         .         .         .         .         .       g.10797
 GAGAAAACCATCTTCATCCTGTTCATGTTGTCTGTGGCCTCTGTGTCCCTATTCCTCAAC       c.660
 E  K  T  I  F  I  L  F  M  L  S  V  A  S  V  S  L  F  L  N         p.220

          .         .         .         .         .         .       g.10857
 GTGATGGAGTTGGGCCACCTGGGCCTGAAGGGGATCCGGTCTGCCTTGAAGAGGCCTGTA       c.720
 V  M  E  L  G  H  L  G  L  K  G  I  R  S  A  L  K  R  P  V         p.240

          .         .         .         .         .         .       g.10917
 GAGCAGCCCCTGGGGGAGATTCCTGAGAAATCCCTCCACTCCATTGCTGTCTCCTCCATC       c.780
 E  Q  P  L  G  E  I  P  E  K  S  L  H  S  I  A  V  S  S  I         p.260

          .         .         .         .         .         .       g.10977
 CAGAAAGCCAAGGGCTATCAGCTCCTAGAAGAAGAGAAAATCGTTTCCCACTATTTCCCC       c.840
 Q  K  A  K  G  Y  Q  L  L  E  E  E  K  I  V  S  H  Y  F  P         p.280

          .         .         .         .         .         .       g.11037
 TTGACCGAGGTTGGGATGGTGGAGACCAGCCCACTGCCTGCCAAGCCTTTCAATCAGTTC       c.900
 L  T  E  V  G  M  V  E  T  S  P  L  P  A  K  P  F  N  Q  F         p.300

          .         .         .         .         .         .       g.11097
 GAGGAGAAGATCAGCACAGGACCCCTGGGGGACTTGTCCCGGGGCTACCAAGAGACACTG       c.960
 E  E  K  I  S  T  G  P  L  G  D  L  S  R  G  Y  Q  E  T  L         p.320

          .         .         .         .         .         .       g.11157
 CCTTCCTACGCTCAGGTGGGGGCACAAGAAGTGGAGGGCGAGGGGCCGCCTGCAGAGGAG       c.1020
 P  S  Y  A  Q  V  G  A  Q  E  V  E  G  E  G  P  P  A  E  E         p.340

          .         .         .         .         .         .       g.11217
 GGAGCCGAACCCGAGGTGGGAGAGAAGAAGGAGGAAGCAGAGAGGCTGACCACGGAGGAG       c.1080
 G  A  E  P  E  V  G  E  K  K  E  E  A  E  R  L  T  T  E  E         p.360

          .         .         .         .         .         .       g.11277
 CAGGAGAAGGTGGCCGTGCCAGAGGGGGAGAAAGTAGAGACCCCCGGAGTGGATAAGGAG       c.1140
 Q  E  K  V  A  V  P  E  G  E  K  V  E  T  P  G  V  D  K  E         p.380

          .         .         .         .         .         .       g.11337
 GGTGAAAAAGAAGAGCCGCAGTCGGAGAAGGTGTCAAAGCAAGGGCTGCCAGCTGAGAAG       c.1200
 G  E  K  E  E  P  Q  S  E  K  V  S  K  Q  G  L  P  A  E  K         p.400

          .         .         .         .         .         .       g.11397
 ACACCTTCACTCTGTCCAGAGCTGACAACAGATGATGCCAGACCCCTGAGCAGGCTAAGC       c.1260
 T  P  S  L  C  P  E  L  T  T  D  D  A  R  P  L  S  R  L  S         p.420

          .         .         .         .                           g.11439
 AAAGCCAGCAGCCGAGCCAGGTCAGACGATCTAACCGTATGA                         c.1302
 K  A  S  S  R  A  R  S  D  D  L  T  V  X                           p.433

          .                                                         g.11451
 agtgacgccaaa                                                       c.*12

 (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, alpha 8, 50kDa 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.