MAD2 mitotic arrest deficient-like 2 (yeast) (MAD2L2) - coding DNA reference sequence

(used for variant description)

(last modified October 4, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_006341.3 in the MAD2L2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering MAD2L2 transcript NM_006341.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.15415
                                                     ccgtgcgg       c.-181

 .         .         .         .         .         .                g.15475
 gaatgggcgtggcctgggcggggcgggcgctaggacccaccggagcgccgtgaacgtcac       c.-121

 .         .         .         .         .         .                g.15535
 cgagcggcgccgaggccccgggttgagcgggaggcgcgatcggtccggtcggtggctccc       c.-61

 .         .         .         .         .        | 02.             g.16020
 cgcggcggggccgggcccgatctcgggcgggaaccgagcgcagagccg | gtagcgggaagg    c.-1

          .         .         .         . | 03       .         .    g.16170
 ATGACCACGCTCACACGACAAGACCTCAACTTTGGCCAAG | TGGTGGCCGATGTGCTCTGC    c.60
 M  T  T  L  T  R  Q  D  L  N  F  G  Q  V |   V  A  D  V  L  C      p.20

          .         .         .         .         .         .       g.16230
 GAGTTCCTGGAGGTGGCTGTGCATCTCATCCTCTACGTGCGCGAGGTCTACCCCGTGGGC       c.120
 E  F  L  E  V  A  V  H  L  I  L  Y  V  R  E  V  Y  P  V  G         p.40

          .         .         .          | 04        .         .    g.19028
 ATCTTCCAGAAACGCAAGAAGTACAACGTGCCGGTCCAG | ATGTCCTGCCACCCGGAGCTG    c.180
 I  F  Q  K  R  K  K  Y  N  V  P  V  Q   | M  S  C  H  P  E  L      p.60

          .         .         .         .         .  | 05      .    g.19682
 AATCAGTATATCCAGGACACGCTGCACTGCGTCAAGCCACTCCTGGAGAAG | AATGATGTG    c.240
 N  Q  Y  I  Q  D  T  L  H  C  V  K  P  L  L  E  K   | N  D  V      p.80

          .         .         .         .         .         .       g.19742
 GAGAAAGTGGTGGTGGTGATTTTGGATAAAGAGCACCGCCCAGTGGAGAAATTCGTCTTT       c.300
 E  K  V  V  V  V  I  L  D  K  E  H  R  P  V  E  K  F  V  F         p.100

          .         .         .   | 06     .         .         .    g.20509
 GAGATCACCCAGCCTCCACTGCTGTCCATCAG | CTCAGACTCGCTGTTGTCTCATGTGGAG    c.360
 E  I  T  Q  P  P  L  L  S  I  S  |  S  D  S  L  L  S  H  V  E      p.120

          .         .         .         .         .         .       g.20569
 CAGCTGCTCCGGGCCTTCATCCTGAAGATCAGCGTGTGCGATGCCGTCCTGGACCACAAC       c.420
 Q  L  L  R  A  F  I  L  K  I  S  V  C  D  A  V  L  D  H  N         p.140

         | 07.         .         .         .         .         .    g.20943
 CCCCCAG | GCTGTACCTTCACAGTCCTGGTGCACACGAGAGAAGCCGCCACTCGCAACATG    c.480
 P  P  G |   C  T  F  T  V  L  V  H  T  R  E  A  A  T  R  N  M      p.160

          .         .  | 08      .         .         .         .    g.21486
 GAGAAGATCCAGGTCATCAAG | GATTTCCCCTGGATCCTGGCGGATGAGCAGGATGTCCAC    c.540
 E  K  I  Q  V  I  K   | D  F  P  W  I  L  A  D  E  Q  D  V  H      p.180

          .         .         .         .         .     | 09   .    g.21811
 ATGCATGACCCCCGGCTGATACCACTAAAAACCATGACGTCGGACATTTTAAAG | ATGCAG    c.600
 M  H  D  P  R  L  I  P  L  K  T  M  T  S  D  I  L  K   | M  Q      p.200

          .         .         .                                     g.21847
 CTTTACGTGGAAGAGCGCGCTCATAAAGGCAGCTGA                               c.636
 L  Y  V  E  E  R  A  H  K  G  S  X                                 p.211

          .         .         .         .         .         .       g.21907
 gggggcacctgccaccccactgatgcccaaactgtcagactttgggggatccccgcctag       c.*60

          .         .         .         .         .         .       g.21967
 ggcagtgctgcatggctgccctgattccaagtgctcttatcgcctctgtgtgtggatcgc       c.*120

          .         .         .         .         .         .       g.22027
 ccgccccagcccggggccgctcaggtctgcttggaggatgcctcccccaggagggcagtg       c.*180

          .         .         .         .         .         .       g.22087
 agggatgccgcaacctcgacttctcagcctcctggggttccgccggccaacactgtctgt       c.*240

          .         .         .         .         .                 g.22142
 ctcaaatactgtgctgtgagttgtttcaataaaggggccccaagggctgggctga            c.*295

 (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 10th nucleotide is indicated by a "." above the sequence. The MAD2 mitotic arrest deficient-like 2 (yeast) protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

Powered by LOVD v.3.0 Build 17
©2004-2016 Leiden University Medical Center