mab-21-like 2 (C. elegans) (MAB21L2) - coding DNA reference sequence

(used for variant description)

(last modified June 6, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_006439.4 in the MAB21L2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000004.11, covering MAB21L2 transcript NM_006439.4.

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

 (upstream sequence)
                                         .         .                g.5025
                                    ggagagagagaaagaaagagagagg       c.-1081

 .         .         .         .         .         .                g.5085
 gagagagagagacagagagagttagaggaaagaagagagagcgagcacgaggaagggggg       c.-1021

 .         .         .         .         .         .                g.5145
 cgggggagagaagcagggggagagcggggcgagaaagaggtcggaggggagaggaggggg       c.-961

 .         .         .         .         .         .                g.5205
 agagacgactcagaaagtggaatctgtaaaagcaagctagaggagaagaaggaaaaccct       c.-901

 .         .         .         .         .         .                g.5265
 gaatcgttataactacaccccagatgcaacgcaagcaacgacttcgtcacactaaaacgg       c.-841

 .         .         .         .         .         .                g.5325
 attttgtgagggccaaaagtataaattacgaagcagaaatgattatcaaacaacttccag       c.-781

 .         .         .         .         .         .                g.5385
 cggtttgcacctaaagaaacacaaggagaacccactacaaacaaacaaacccagtccaaa       c.-721

 .         .         .         .         .         .                g.5445
 caacgcctccagtaggaaaagaggaaaactgcgataacacgaccccccgagaagagacga       c.-661

 .         .         .         .         .         .                g.5505
 gaccaacacgctgagactgtggggcgtcagcaaacctccaagtgcacggcggactgagtt       c.-601

 .         .         .         .         .         .                g.5565
 gtacttcgcagctctctggacattaattacctcctgcaccttccatttgggggagggtga       c.-541

 .         .         .         .         .         .                g.5625
 ggaagaaggcactcacctacactgagcgaagaagtcctatcagcgtggaagagaagttta       c.-481

 .         .         .         .         .         .                g.5685
 agaatgaaccactgaatgtttcgcttttatttttaaatttactttggcacttaaaaaacc       c.-421

 .         .         .         .         .         .                g.5745
 tcatttccagatttctggacaatctcggctgcagacatctaagcctaaccttttggtatc       c.-361

 .         .         .         .         .         .                g.5805
 ctgagttttttccctctccttctccttcctcacgcccaccccgcttctctcgcacacggt       c.-301

 .         .         .         .         .         .                g.5865
 catctttacatatcaagagaaagcaaaaaggttccaagaggtacttttctttttagaaaa       c.-241

 .         .         .         .         .         .                g.5925
 tcaccttttctcccctaattcttctgcagaagaaaagaggtttcgaaagagggaaaagga       c.-181

 .         .         .         .         .         .                g.5985
 aaaaacaagccggctacggtatcagccggtcagcccaggtggaaaacgagagtgaaagta       c.-121

 .         .         .         .         .         .                g.6045
 gggcttaacggggagcgcaccgcctctttcgaaagccgctgggccaccaccagtgcgtga       c.-61

 .         .         .         .         .         .                g.6105
 gccttggatccctcaacgtattgcgagacgccggtgtatagcccggacctgtgccccaac       c.-1

          .         .         .         .         .         .       g.6165
 ATGATCGCCGCTCAGGCCAAGCTGGTTTACCAGCTCAATAAGTACTACACTGAGCGCTGT       c.60
 M  I  A  A  Q  A  K  L  V  Y  Q  L  N  K  Y  Y  T  E  R  C         p.20

          .         .         .         .         .         .       g.6225
 CAGGCGCGCAAGGCGGCCATCGCCAAAACCATCCGAGAGGTCTGTAAGGTGGTCTCGGAC       c.120
 Q  A  R  K  A  A  I  A  K  T  I  R  E  V  C  K  V  V  S  D         p.40

          .         .         .         .         .         .       g.6285
 GTGCTCAAGGAAGTGGAGGTGCAGGAGCCTCGCTTCATCAGCTCCTTGAGCGAGATCGAT       c.180
 V  L  K  E  V  E  V  Q  E  P  R  F  I  S  S  L  S  E  I  D         p.60

          .         .         .         .         .         .       g.6345
 GCCCGCTACGAGGGGCTCGAGGTCATTTCGCCCACCGAATTTGAGGTGGTGCTCTACCTA       c.240
 A  R  Y  E  G  L  E  V  I  S  P  T  E  F  E  V  V  L  Y  L         p.80

          .         .         .         .         .         .       g.6405
 AACCAGATGGGCGTCTTCAACTTCGTGGACGACGGCTCGCTGCCCGGCTGCGCAGTGCTC       c.300
 N  Q  M  G  V  F  N  F  V  D  D  G  S  L  P  G  C  A  V  L         p.100

          .         .         .         .         .         .       g.6465
 AAACTGAGCGATGGGCGGAAGCGGAGCATGTCTCTCTGGGTCGAGTTCATCACGGCGTCG       c.360
 K  L  S  D  G  R  K  R  S  M  S  L  W  V  E  F  I  T  A  S         p.120

          .         .         .         .         .         .       g.6525
 GGCTATCTCTCAGCGCGTAAGATCCGCTCGCGTTTCCAGACGCTGGTGGCCCAGGCGGTG       c.420
 G  Y  L  S  A  R  K  I  R  S  R  F  Q  T  L  V  A  Q  A  V         p.140

          .         .         .         .         .         .       g.6585
 GACAAGTGCAGCTATCGGGATGTGGTCAAGATGATCGCGGACACCAGCGAGGTCAAGTTG       c.480
 D  K  C  S  Y  R  D  V  V  K  M  I  A  D  T  S  E  V  K  L         p.160

          .         .         .         .         .         .       g.6645
 CGCATCAGGGAGCGCTATGTGGTGCAAATCACTCCGGCGTTCAAGTGCACCGGGATCTGG       c.540
 R  I  R  E  R  Y  V  V  Q  I  T  P  A  F  K  C  T  G  I  W         p.180

          .         .         .         .         .         .       g.6705
 CCTCGCAGCGCGGCACAGTGGCCTATGCCCCACATCCCTTGGCCCGGCCCCAATCGGGTG       c.600
 P  R  S  A  A  Q  W  P  M  P  H  I  P  W  P  G  P  N  R  V         p.200

          .         .         .         .         .         .       g.6765
 GCCGAGGTCAAGGCCGAAGGGTTCAACTTGCTCTCGAAGGAGTGCTACTCGCTGACCGGC       c.660
 A  E  V  K  A  E  G  F  N  L  L  S  K  E  C  Y  S  L  T  G         p.220

          .         .         .         .         .         .       g.6825
 AAGCAGAGCTCGGCAGAGAGCGACGCCTGGGTGCTACAGTTCGGGGAGGCGGAGAACCGC       c.720
 K  Q  S  S  A  E  S  D  A  W  V  L  Q  F  G  E  A  E  N  R         p.240

          .         .         .         .         .         .       g.6885
 CTGCTGATGGGCGGCTGCCGAAACAAGTGCCTCTCAGTGCTGAAGACTCTGCGGGACCGC       c.780
 L  L  M  G  G  C  R  N  K  C  L  S  V  L  K  T  L  R  D  R         p.260

          .         .         .         .         .         .       g.6945
 CACCTGGAGCTACCCGGCCAGCCGCTCAACAACTACCACATGAAGACGCTGCTGCTGTAC       c.840
 H  L  E  L  P  G  Q  P  L  N  N  Y  H  M  K  T  L  L  L  Y         p.280

          .         .         .         .         .         .       g.7005
 GAGTGCGAGAAACACCCACGAGAAACGGACTGGGACGAGTCGTGCCTGGGCGACCGGCTC       c.900
 E  C  E  K  H  P  R  E  T  D  W  D  E  S  C  L  G  D  R  L         p.300

          .         .         .         .         .         .       g.7065
 AACGGCATCCTGCTGCAGCTCATCTCCTGCCTGCAGTGCCGCCGCTGCCCTCACTACTTT       c.960
 N  G  I  L  L  Q  L  I  S  C  L  Q  C  R  R  C  P  H  Y  F         p.320

          .         .         .         .         .         .       g.7125
 CTGCCCAACCTCGACCTCTTTCAGGGCAAGCCCCATTCGGCCCTGGAGAGCGCTGCCAAG       c.1020
 L  P  N  L  D  L  F  Q  G  K  P  H  S  A  L  E  S  A  A  K         p.340

          .         .         .         .         .         .       g.7185
 CAGACCTGGAGGTTGGCCAGGGAAATTCTCACCAATCCCAAAAGCCTGGACAAACTATAG       c.1080
 Q  T  W  R  L  A  R  E  I  L  T  N  P  K  S  L  D  K  L  X         p.359

          .         .         .         .         .         .       g.7245
 ggtgctggggactgcttgaaaagcgacacaaacgggcgtgctctctcagacacacaactc       c.*60

          .         .         .         .         .         .       g.7305
 tgctataaacagcagaaactctggacacaaacttttatgtaagtcacctgaaataggaat       c.*120

          .         .         .         .         .         .       g.7365
 ccggcagaagaccttcattaattaagaagcaaacaaaaagagagcaacccaaccaaaaca       c.*180

          .         .         .         .         .         .       g.7425
 aatcacattcttgcacaaaagtgatcgttttcttccaaacaatgtgaatttaaaaggtca       c.*240

          .         .         .         .         .         .       g.7485
 cacaaaagaagcaatcgggctccgccaccacaaaatgaaacccaaggtacattttcaaat       c.*300

          .         .         .         .         .         .       g.7545
 caatgtatagtagttccccccccttttccttctttccccctatcctttttctctccaccc       c.*360

          .         .         .         .         .         .       g.7605
 catccccccccccatttcgttttgcttttggttgcctgaatgttgtcaccaagtgaaaaa       c.*420

          .         .         .         .         .         .       g.7665
 attatttaactatatgtaaaatttctcttttaaaaaaaagttttactgatgttaaacgtt       c.*480

          .         .         .         .         .         .       g.7725
 ctcagtgccaatgtcagactgtgctcctccctctcctgaacctctaccctcaccctgagc       c.*540

          .         .         .         .                           g.7769
 tgtcttgttgaaaacagtaataaaaacattactttacattgtaa                       c.*584

 (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 Mab-21-like 2 (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.