adaptor-related protein complex 2, mu 1 subunit (AP2M1) - coding DNA reference sequence

(used for variant description)

(last modified June 7, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_004068.3 in the AP2M1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering AP2M1 transcript NM_004068.3.

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

 (upstream sequence)
                               .         .         .                g.5037
                        ggcggcggcactgcggtgaaagccgaggcagcgggca       c.-121

 .         .         .         .         .         .                g.5097
 gacgagcagggggcgggcggacatcttgggatccggagagtggccgggccggcagagcag       c.-61

 .         .       | 02 .         .         .         .             g.7148
 ggggccgaggacaccag | gtctgttctcagagcgatgggccgcggagactgatctgccgcc    c.-1

          .         .         .         .         .         .       g.7208
 ATGATTGGAGGCTTATTCATCTATAATCACAAGGGGGAGGTGCTCATCTCCCGAGTCTAC       c.60
 M  I  G  G  L  F  I  Y  N  H  K  G  E  V  L  I  S  R  V  Y         p.20

          .     | 03   .         .         .         .         .    g.9057
 CGAGATGACATCGG | GAGGAACGCAGTGGATGCCTTTCGGGTCAATGTTATCCATGCCCGG    c.120
 R  D  D  I  G  |  R  N  A  V  D  A  F  R  V  N  V  I  H  A  R      p.40

          .         .         .         .         .         .       g.9117
 CAGCAGGTGCGCAGCCCCGTCACCAACATTGCTCGCACCAGCTTCTTCCACGTTAAGCGG       c.180
 Q  Q  V  R  S  P  V  T  N  I  A  R  T  S  F  F  H  V  K  R         p.60

          .         .         .         .         .         .       g.9177
 TCCAACATTTGGCTGGCAGCAGTCACCAAGCAGAATGTCAACGCTGCCATGGTCTTCGAA       c.240
 S  N  I  W  L  A  A  V  T  K  Q  N  V  N  A  A  M  V  F  E         p.80

          .         .         .         .         .         .       g.9237
 TTCCTCTATAAGATGTGTGACGTGATGGCTGCCTACTTTGGCAAGATCAGCGAGGAAAAC       c.300
 F  L  Y  K  M  C  D  V  M  A  A  Y  F  G  K  I  S  E  E  N         p.100

          .         .         .         . | 04       .         .    g.10343
 ATCAAGAACAATTTTGTGCTCATATATGAGCTGCTGGATG | AGATTCTAGACTTTGGCTAC    c.360
 I  K  N  N  F  V  L  I  Y  E  L  L  D  E |   I  L  D  F  G  Y      p.120

          .         .         .         .         .         .       g.10403
 CCACAGAATTCCGAGACAGGCGCGCTGAAAACCTTCATCACGCAGCAGGGCATCAAGAGT       c.420
 P  Q  N  S  E  T  G  A  L  K  T  F  I  T  Q  Q  G  I  K  S         p.140

     | 05     | 06        .         .         .         .         . g.11054
 CAG | CATCAG | ACAAAAGAAGAGCAGTCACAGATCACCAGCCAGGTAACTGGGCAGATTGGC c.480
 Q   | H  Q   | T  K  E  E  Q  S  Q  I  T  S  Q  V  T  G  Q  I  G   p.160

          .         .         .         .         .         .       g.11114
 TGGCGGCGAGAGGGTATCAAGTATCGTCGGAATGAGCTCTTCCTGGATGTGCTGGAGAGT       c.540
 W  R  R  E  G  I  K  Y  R  R  N  E  L  F  L  D  V  L  E  S         p.180

          .         .      | 07  .         .         .         .    g.11274
 GTGAACCTGCTCATGTCCCCACAAG | GGCAGGTGCTGAGTGCCCATGTGTCGGGCCGGGTG    c.600
 V  N  L  L  M  S  P  Q  G |   Q  V  L  S  A  H  V  S  G  R  V      p.200

          .         .         .         .         .         .       g.11334
 GTGATGAAGAGCTACCTGAGTGGCATGCCTGAATGCAAGTTTGGGATGAATGACAAGATT       c.660
 V  M  K  S  Y  L  S  G  M  P  E  C  K  F  G  M  N  D  K  I         p.220

          .         .         .         .        | 08.         .    g.11863
 GTTATTGAAAAGCAGGGCAAAGGCACAGCTGATGAAACAAGCAAGAG | CGGGAAGCAATCA    c.720
 V  I  E  K  Q  G  K  G  T  A  D  E  T  S  K  S  |  G  K  Q  S      p.240

          .         .         .         .         .         .       g.11923
 ATTGCCATTGATGACTGCACCTTCCACCAGTGTGTGCGACTCAGCAAGTTTGACTCTGAA       c.780
 I  A  I  D  D  C  T  F  H  Q  C  V  R  L  S  K  F  D  S  E         p.260

          .         .         .         .        | 09.         .    g.12079
 CGCAGCATCAGCTTTATCCCGCCAGATGGAGAGTTTGAGCTTATGAG | GTATCGCACAACC    c.840
 R  S  I  S  F  I  P  P  D  G  E  F  E  L  M  R  |  Y  R  T  T      p.280

          .         .         .         .         .         .       g.12139
 AAGGACATCATCCTTCCCTTCCGGGTGATCCCGCTAGTGCGAGAAGTGGGACGCACCAAA       c.900
 K  D  I  I  L  P  F  R  V  I  P  L  V  R  E  V  G  R  T  K         p.300

          .         .         .         .         .         .       g.12199
 CTGGAGGTCAAGGTGGTCATCAAGTCCAACTTTAAACCCTCACTGCTGGCTCAGAAGATC       c.960
 L  E  V  K  V  V  I  K  S  N  F  K  P  S  L  L  A  Q  K  I         p.320

     | 10    .         .         .         .         .         .    g.12362
 GAG | GTGAGGATCCCAACCCCACTGAACACAAGCGGGGTGCAGGTGATCTGCATGAAGGGG    c.1020
 E   | V  R  I  P  T  P  L  N  T  S  G  V  Q  V  I  C  M  K  G      p.340

          .         .         .         .  | 11      .         .    g.12930
 AAGGCCAAGTACAAGGCCAGCGAGAATGCCATCGTGTGGAA | GATCAAGCGCATGGCAGGC    c.1080
 K  A  K  Y  K  A  S  E  N  A  I  V  W  K  |  I  K  R  M  A  G      p.360

          .         .         .         .         .         .       g.12990
 ATGAAGGAATCGCAGATCAGCGCAGAGATTGAGCTTCTGCCTACCAACGACAAGAAGAAA       c.1140
 M  K  E  S  Q  I  S  A  E  I  E  L  L  P  T  N  D  K  K  K         p.380

          .         .         .    | 12    .         .         .    g.13663
 TGGGCTCGACCCCCCATTTCCATGAACTTTGAG | GTGCCATTCGCGCCCTCTGGCCTCAAG    c.1200
 W  A  R  P  P  I  S  M  N  F  E   | V  P  F  A  P  S  G  L  K      p.400

          .         .         .         .         .         .       g.13723
 GTGCGCTACTTGAAGGTGTTTGAACCGAAGCTGAACTACAGCGACCATGATGTCATCAAA       c.1260
 V  R  Y  L  K  V  F  E  P  K  L  N  Y  S  D  H  D  V  I  K         p.420

          .         .         .         .                           g.13771
 TGGGTGCGCTACATTGGCCGCAGTGGCATTTATGAAACTCGCTGCTAG                   c.1308
 W  V  R  Y  I  G  R  S  G  I  Y  E  T  R  C  X                     p.435

          .         .         .         .         .         .       g.13831
 ctgccactaggcagctagcccacctccccagccaccctcctccacaggtccaggtgccgc       c.*60

          .         .         .         .         .         .       g.13891
 tccctcccccaccacacatcagtgtctcctccctcctgctttgctgccttccctttgcac       c.*120

          .         .         .         .         .         .       g.13951
 cagcccgagtctaggtctgggccaagcacattacaagtgggaccggtggagcagcccctg       c.*180

          .         .         .         .         .         .       g.14011
 ggctccctgggcaggggagttctgaggctcctgctctcccatccacctgtctgtcctggc       c.*240

          .         .         .         .         .         .       g.14071
 ctaatgccaggctctgagttctgtgaccaaagccaggtgggttccctttccttcccaccc       c.*300

          .         .         .         .         .         .       g.14131
 ctgtggccacagctctggagtgggagggttggttgcccctcacctcagagctcccccaaa       c.*360

          .         .         .         .         .         .       g.14191
 ggccagtaatggatccccggcctcagtccctactctgctttgggatagtgtgagcttcat       c.*420

          .         .         .         .         .                 g.14246
 tttgtacacgtgtgacttcgtccagttacaaacccaataaactctgtagagtgga            c.*475

 (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 Adaptor-related protein complex 2, mu 1 subunit 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.