unc-119 homolog (C. elegans) (UNC119) - coding DNA reference sequence

(used for variant description)

(last modified June 16, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_005148.3 in the UNC119 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012302.1, covering UNC119 transcript NM_005148.3.

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

 (upstream sequence)
                                                   .                g.5011
                                                  cccacttcccc       c.-61

 .         .         .         .         .         .                g.5071
 cggctccagccggcgcaggcagcggcggcagcagcaggcgagcctcggccccgcaaggcc       c.-1

          .         .         .         .         .         .       g.5131
 ATGAAGGTGAAGAAGGGCGGCGGTGGGGCCGGGACGGCGACGGAGTCCGCTCCGGGGCCC       c.60
 M  K  V  K  K  G  G  G  G  A  G  T  A  T  E  S  A  P  G  P         p.20

          .         .         .         .         .         .       g.5191
 TCGGGCCAGAGCGTGGCCCCCATACCACAGCCGCCTGCGGAATCCGAATCTGGGTCCGAG       c.120
 S  G  Q  S  V  A  P  I  P  Q  P  P  A  E  S  E  S  G  S  E         p.40

          .         .         .         .         .         .       g.5251
 TCGGAGCCGGACGCAGGCCCAGGGCCCAGGCCGGGGCCGCTGCAGAGGAAGCAGCCGATC       c.180
 S  E  P  D  A  G  P  G  P  R  P  G  P  L  Q  R  K  Q  P  I         p.60

          .         .         .         . | 02       .         .    g.8943
 GGGCCGGAGGACGTGCTGGGGCTGCAGCGGATCACCGGTG | ACTACCTCTGCTCCCCTGAG    c.240
 G  P  E  D  V  L  G  L  Q  R  I  T  G  D |   Y  L  C  S  P  E      p.80

          .         .         .         .         .         .       g.9003
 GAGAATATCTACAAGATCGACTTTGTCAGGTTTAAGATTCGGGACATGGACTCAGGCACT       c.300
 E  N  I  Y  K  I  D  F  V  R  F  K  I  R  D  M  D  S  G  T         p.100

          .         .         .     | 03   .         .         .    g.9553
 GTCCTCTTTGAAATCAAGAAGCCCCCAGTCTCAG | AACGGTTGCCCATCAACCGGCGGGAC    c.360
 V  L  F  E  I  K  K  P  P  V  S  E |   R  L  P  I  N  R  R  D      p.120

          .         .         .         .         .         .       g.9613
 CTGGACCCCAATGCTGGGCGCTTTGTCCGCTACCAGTTCACGCCTGCCTTCCTCCGCCTG       c.420
 L  D  P  N  A  G  R  F  V  R  Y  Q  F  T  P  A  F  L  R  L         p.140

          .        | 04.         .         .         .         .    g.9822
 AGGCAGGTGGGAGCCAC | GGTGGAGTTCACAGTGGGAGACAAGCCTGTCAACAACTTCCGC    c.480
 R  Q  V  G  A  T  |  V  E  F  T  V  G  D  K  P  V  N  N  F  R      p.160

          .         .         .         .         .         .       g.9882
 ATGATCGAGAGGCACTACTTCCGCAACCAGCTACTCAAAAGCTTCGACTTCCACTTTGGC       c.540
 M  I  E  R  H  Y  F  R  N  Q  L  L  K  S  F  D  F  H  F  G         p.180

          .         .         .         .         .         .       g.9942
 TTCTGCATCCCCAGCAGCAAGAACACCTGCGAGCACATTTACGACTTCCCCCCTCTCTCC       c.600
 F  C  I  P  S  S  K  N  T  C  E  H  I  Y  D  F  P  P  L  S         p.200

          . | 05       .         .         .         .         .    g.10269
 GAGGAGCTGA | TCAGCGAGATGATCCGCCACCCGTATGAGACCCAGTCTGACAGCTTCTAC    c.660
 E  E  L  I |   S  E  M  I  R  H  P  Y  E  T  Q  S  D  S  F  Y      p.220

          .         .         .         .         .         .       g.10329
 TTCGTGGATGACCGGCTGGTGATGCACAATAAAGCAGACTATTCCTACAGCGGGACACCC       c.720
 F  V  D  D  R  L  V  M  H  N  K  A  D  Y  S  Y  S  G  T  P         p.240

                                                                    g.10332
 TGA                                                                c.723
 X                                                                  p.240

          .         .         .         .         .         .       g.10392
 ccccacggctgccctgaccccaggaggctccagttctgggctgggagctgtgacctcccc       c.*60

          .         .         .         .         .         .       g.10452
 aacgctcacccctcaaccccaagtcctctgcttggggagttctccaggagctccggaccc       c.*120

          .         .         .         .         .         .       g.10512
 tgagtcaatgttgggaggaagggtacctggtgtccccagtcaagcccatgaagcccatgc       c.*180

          .         .         .         .         .         .       g.10572
 ggcctgctacatggggtggggtcgtagggaggctgtttgcctccacgtctaggaaggcct       c.*240

          .         .         .         .         .         .       g.10632
 gtgagaggagcagtcaggacttccggacaacttagctgggccctacttgggcccaagttt       c.*300

          .         .         .         .         .         .       g.10692
 cagaatagtgttcccctatcaaggctgtgactagatcaggcagggatccattccctgtcc       c.*360

          .         .         .         .         .         .       g.10752
 cctgcccactaccttcaggccatttagagttgtaaatttacaaagatccacggtgggctc       c.*420

          .         .         .         .         .         .       g.10812
 cagctgccaagccacccaagggagtctgggccctaggcctagccccatccctccccatga       c.*480

          .         .         .         .         .         .       g.10872
 ggggccaagacactgcctaaggtgtgggagggactggctgagattgcagcccatggtagg       c.*540

          .         .         .         .         .                 g.10922
 agctggaccaactgtatatagttttcaataaactttttccttttctgttc                 c.*590

 (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 Unc-119 homolog (C. elegans) 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.