adaptor-related protein complex 4, mu 1 subunit (AP4M1) - coding DNA reference sequence

(used for variant description)

(last modified February 15, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_004722.3 in the AP4M1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering AP4M1 transcript NM_004722.3.

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

 (upstream sequence)
                                         .         .                g.5028
                                 agaatgagtgacggggaggcggtgcggg       c.-181

 .         .         .         .         .         .                g.5088
 cgtcggaagggaatctccgggcggggtagtgcaggcgccgggtttcccgcggtccgagct       c.-121

 .         .         .         .         .         .                g.5148
 ggcgcgggcggaggagaatcgctcttaaagggccagcgcacacgcgttcttttgttccgg       c.-61

 .         .         .         .         .         .                g.5208
 ggccgcagggcggggcaggcccgactttcgccgtcttcttgtctactctccagaacggcc       c.-1

          .         .         .         .         .         | 02    g.5375
 ATGATTTCCCAATTCTTCATTCTGTCCTCCAAGGGGGACCCGCTCATCTACAAAGACT | TC    c.60
 M  I  S  Q  F  F  I  L  S  S  K  G  D  P  L  I  Y  K  D  F |       p.20

          .         .         .         .         .         .       g.5435
 CGCGGGGACAGTGGCGGCCGGGATGTGGCCGAGCTCTTCTACCGGAAGCTGACGGGACTG       c.120
 R  G  D  S  G  G  R  D  V  A  E  L  F  Y  R  K  L  T  G  L         p.40

          .         .        | 03.         .         .         .    g.6201
 CCAGGAGACGAGTCCCCGGTTGTCATG | CATCACCATGGCCGTCATTTCATTCACATCAGA    c.180
 P  G  D  E  S  P  V  V  M   | H  H  H  G  R  H  F  I  H  I  R      p.60

          .         .         .         .         .         .       g.6261
 CACAGCGGCCTCTATTTGGTGGTCACAACTTCAGAAAACGTTTCTCCCTTCAGCCTCCTA       c.240
 H  S  G  L  Y  L  V  V  T  T  S  E  N  V  S  P  F  S  L  L         p.80

          .     | 04   .         .         .         .         .    g.6403
 GAACTGCTCTCCAG | GTTGGCCACCCTTCTGGGCGATTACTGTGGCTCCCTGGGCGAGGGG    c.300
 E  L  L  S  R  |  L  A  T  L  L  G  D  Y  C  G  S  L  G  E  G      p.100

          .         .         .         .         .  | 05      .    g.6911
 ACCATCTCCCGCAATGTGGCTCTGGTATACGAACTCCTGGATGAAGTGCTG | GACTATGGC    c.360
 T  I  S  R  N  V  A  L  V  Y  E  L  L  D  E  V  L   | D  Y  G      p.120

          .         .         .         .         .         .       g.6971
 TATGTACAGACCACATCCACGGAGATGCTGAGGAATTTCATCCAGACGGAAGCTGTGGTC       c.420
 Y  V  Q  T  T  S  T  E  M  L  R  N  F  I  Q  T  E  A  V  V         p.140

          .         .         .         .   | 06     .         .    g.7123
 AGCAAGCCCTTCAGCCTCTTTGACCTCAGCAGCGTTGGCTTG | TTTGGGGCTGAGACACAA    c.480
 S  K  P  F  S  L  F  D  L  S  S  V  G  L   | F  G  A  E  T  Q      p.160

          .         .         .         .         .         .       g.7183
 CAGAGCAAAGTGGCCCCCAGCAGTGCAGCCAGCCGCCCCGTCCTGTCCAGTCGCTCTGAC       c.540
 Q  S  K  V  A  P  S  S  A  A  S  R  P  V  L  S  S  R  S  D         p.180

     | 07    .         .         .         .         .         .    g.7642
 CAG | AGCCAAAAGAATGAAGTTTTTTTGGATGTGGTCGAGAGATTGTCTGTACTGATAGCA    c.600
 Q   | S  Q  K  N  E  V  F  L  D  V  V  E  R  L  S  V  L  I  A      p.200

        | 08 .         .         .         .         .         .    g.8421
 TCTAAT | GGATCCCTGCTGAAGGTGGATGTGCAGGGAGAGATTCGGCTCAAGAGCTTCCTT    c.660
 S  N   | G  S  L  L  K  V  D  V  Q  G  E  I  R  L  K  S  F  L      p.220

          .    | 09    .         .         .         .         .    g.8585
 CCTAGCGGCTCTG | AGATGCGCATTGGCTTGACGGAAGAGTTTTGTGTGGGGAAGTCAGAG    c.720
 P  S  G  S  E |   M  R  I  G  L  T  E  E  F  C  V  G  K  S  E      p.240

         | 10.         .         .         .         .         .    g.8786
 CTGAGAG | GTTATGGGCCAGGAATCCGGGTCGATGAAGTCTCGTTTCACAGCTCTGTGAAT    c.780
 L  R  G |   Y  G  P  G  I  R  V  D  E  V  S  F  H  S  S  V  N      p.260

          .         .         .         .         .     | 11   .    g.8944
 CTGGACGAATTTGAGTCTCATCGAATCCTCCGCTTGCAACCACCTCAGGGCGAG | CTGACT    c.840
 L  D  E  F  E  S  H  R  I  L  R  L  Q  P  P  Q  G  E   | L  T      p.280

          .         .         .         .         .         .       g.9004
 GTGATGCGGTACCAACTCTCCGATGACCTCCCCTCACCGCTCCCCTTCCGGCTCTTCCCC       c.900
 V  M  R  Y  Q  L  S  D  D  L  P  S  P  L  P  F  R  L  F  P         p.300

          .         .          | 12        .         .         .    g.9483
 TCTGTGCAGTGGGACCGAGGCTCAGGCCG | GCTCCAGGTTTATCTAAAGTTGCGATGTGAC    c.960
 S  V  Q  W  D  R  G  S  G  R  |  L  Q  V  Y  L  K  L  R  C  D      p.320

          .     | 13   .         .         .         .         .    g.9780
 CTGCTCTCAAAGAG | CCAAGCCCTCAATGTCAGGCTGCACCTCCCCCTGCCTCGAGGGGTG    c.1020
 L  L  S  K  S  |  Q  A  L  N  V  R  L  H  L  P  L  P  R  G  V      p.340

       | 14  .         .         .         .         .         .    g.9951
 GTCAG | CCTGTCTCAGGAGCTGAGCAGCCCAGAGCAGAAGGCTGAGCTGGCAGAGGGAGCC    c.1080
 V  S  |  L  S  Q  E  L  S  S  P  E  Q  K  A  E  L  A  E  G  A      p.360

          .         .         .         .         .        | 15.    g.10154
 CTTCGCTGGGACCTGCCTCGGGTGCAAGGAGGCTCTCAACTCTCAGGCCTTTTCCAG | ATG    c.1140
 L  R  W  D  L  P  R  V  Q  G  G  S  Q  L  S  G  L  F  Q   | M      p.380

          .         .         .         .         .         .       g.10214
 GACGTCCCAGGGCCCCCAGGACCTCCCAGCCATGGGCTCTCCACCTCGGCCTCTCCTCTG       c.1200
 D  V  P  G  P  P  G  P  P  S  H  G  L  S  T  S  A  S  P  L         p.400

          .         .         .         .         .         .       g.10274
 GGGCTGGGCCCTGCCAGTCTCTCCTTCGAGCTTCCCCGGCACACGTGCTCTGGCCTCCAG       c.1260
 G  L  G  P  A  S  L  S  F  E  L  P  R  H  T  C  S  G  L  Q         p.420

          .         .         .         .         .         .       g.10334
 GTCCGATTCCTCAGGCTGGCCTTCAGGCCATGCGGCAATGCCAACCCCCACAAGTGGGTG       c.1320
 V  R  F  L  R  L  A  F  R  P  C  G  N  A  N  P  H  K  W  V         p.440

          .         .         .         .                           g.10376
 CGACACCTAAGCCACAGCGACGCCTATGTCATTCGGATCTGA                         c.1362
 R  H  L  S  H  S  D  A  Y  V  I  R  I  X                           p.453

          .         .         .         .         .         .       g.10436
 ggctccccaaacgaggacacgacggccaaggtggcagtttgtcccacgggaggacagtcg       c.*60

          .         .         .         .         .         .       g.10496
 tttcttttccagcctcctggccttcggactctgaatctgggcaggaagagtcctcagtcc       c.*120

          .         .         .         .         .         .       g.10556
 caagaccaggagggggcaatgggcccagcctttctgtggtatctgatgcaggaaggactg       c.*180

          .         .         .         .         .         .       g.10616
 cagtggatcagaacttacaaaccaaacttttattctgagaaactggctgtacaatatcta       c.*240

          .         .         .         .         .                 g.10674
 aaaagaaagtgacatgaaggaagcaatctacaacttccttccgcttagcgagcatgca         c.*298

 (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 4, 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.