mannose-P-dolichol utilization defect 1 (MPDU1) - coding DNA reference sequence

(used for variant description)

(last modified March 20, 2015)

This file was created to facilitate the description of sequence variants on transcript NM_004870.3 in the MPDU1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009204.1, covering MPDU1 transcript NM_004870.3.

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

 (upstream sequence)
                               .         .         .                g.5036
                         aagctttacaattccaacagcgcgtccaaaacgtgg       c.-181

 .         .         .         .         .         .                g.5096
 tccctgactgagacttattttacgccactagagtgagggtgggtagcgtcagaaagagcg       c.-121

 .         .         .         .         .         .                g.5156
 gggcacggggcgggccagcttcgccgcgggaaaagaacgggaggcggagtgtccgcagcg       c.-61

 .         .         .         .         .         .                g.5216
 cgcacgcgcaacgaaagtcaatggcggtctggagagactggcggaagctagctttgcaat       c.-1

          .         .         .         .         .         .       g.5276
 ATGGCGGCCGAGGCGGACGGACCGCTTAAACGGCTGCTCGTGCCGATTCTTTTACCTGAG       c.60
 M  A  A  E  A  D  G  P  L  K  R  L  L  V  P  I  L  L  P  E         p.20

          .         .         .         .    | 02    .         .    g.7102
 AAATGCTACGACCAACTTTTCGTTCAGTGGGACTTGCTTCACG | TCCCCTGCCTCAAGATT    c.120
 K  C  Y  D  Q  L  F  V  Q  W  D  L  L  H  V |   P  C  L  K  I      p.40

          .         .         .         .          | 03        .    g.7310
 CTCCTCAGCAAAGGCCTGGGGCTGGGCATTGTGGCTGGCTCACTTCTAG | TAAAGCTGCCC    c.180
 L  L  S  K  G  L  G  L  G  I  V  A  G  S  L  L  V |   K  L  P      p.60

          .         .         .         .         .         .       g.7370
 CAGGTGTTTAAAATCCTGGGAGCCAAGAGTGCTGAAGGGTTGAGTCTCCAGTCTGTAATG       c.240
 Q  V  F  K  I  L  G  A  K  S  A  E  G  L  S  L  Q  S  V  M         p.80

          .         .         .         .         .         .       g.7430
 CTGGAGCTAGTGGCATTGACTGGGACCATGGTCTACAGCATCACTAACAACTTCCCATTC       c.300
 L  E  L  V  A  L  T  G  T  M  V  Y  S  I  T  N  N  F  P  F         p.100

    | 04     .         .         .         .         .         .    g.8103
 AG | CTCTTGGGGTGAAGCCTTATTCCTGATGCTCCAGACGATCACCATCTGCTTCCTGGTC    c.360
 S  |  S  W  G  E  A  L  F  L  M  L  Q  T  I  T  I  C  F  L  V      p.120

          .         .         | 05         .         .         .    g.8284
 ATGCACTACAGAGGACAGACTGTGAAAG | GTGTCGCTTTCCTCGCTTGCTACGGCCTGGTC    c.420
 M  H  Y  R  G  Q  T  V  K  G |   V  A  F  L  A  C  Y  G  L  V      p.140

          .         .         .         .         .         .       g.8344
 CTGCTGGTGCTTCTCTCACCTCTGACGCCCTTGACTGTAGTCACCCTGCTCCAGGCCTCC       c.480
 L  L  V  L  L  S  P  L  T  P  L  T  V  V  T  L  L  Q  A  S         p.160

          .         .        | 06.         .         .         .    g.8547
 AATGTGCCTGCTGTGGTGGTGGGGAGG | CTTCTCCAGGCAGCCACCAACTACCACAACGGG    c.540
 N  V  P  A  V  V  V  G  R   | L  L  Q  A  A  T  N  Y  H  N  G      p.180

          .         .         .         .         .         .       g.8607
 CACACAGGCCAGCTCTCAGCCATCACAGTCTTCCTGCTGTTTGGGGGCTCCCTGGCCCGA       c.600
 H  T  G  Q  L  S  A  I  T  V  F  L  L  F  G  G  S  L  A  R         p.200

          .         | 07         .         .         .         .    g.8821
 ATCTTCACTTCCATTCAG | GAAACCGGAGATCCCCTGATGGCTGGGACCTTTGTGGTCTCC    c.660
 I  F  T  S  I  Q   | E  T  G  D  P  L  M  A  G  T  F  V  V  S      p.220

          .         .         .         .         .         .       g.8881
 TCTCTCTGCAACGGCCTCATCGCCGCCCAGCTGCTCTTCTACTGGAATGCAAAGCCTCCC       c.720
 S  L  C  N  G  L  I  A  A  Q  L  L  F  Y  W  N  A  K  P  P         p.240

          .         .                                               g.8905
 CACAAGCAGAAAAAGGCGCAGTAG                                           c.744
 H  K  Q  K  K  A  Q  X                                             p.247

          .         .         .         .         .         .       g.8965
 agccagctactggagtcattccgtttccactcattcacccaacctcagggttctccccat       c.*60

          .         .         .         .         .         .       g.9025
 ctgagccagcctgctggtgtgacttactcatcctccattcctctgcacttgcagactttc       c.*120

          .         .         .         .         .         .       g.9085
 tgagccagggttttcttttagtggaaacaaatggttgatggatccagatccttagaaaag       c.*180

          .         .         .         .         .         .       g.9145
 gagaggatgggggtagagtctcccaagccaaaattttgacatttgagtgctttcgtaagc       c.*240

          .         .         .         .         .         .       g.9205
 cctgtacatgtactattaattcagtcattcagccaagcctcctcctctagcagcaatttc       c.*300

          .         .         .         .         .         .       g.9265
 cagctgtgtaacactatcctgggcaaatgttttaccctgtcctccagcctccctgcttcc       c.*360

          .         .         .         .         .         .       g.9325
 cttctggccctggaagactgagtctggacggcagagtggagggactgggaggctgtggct       c.*420

          .         .         .         .         .         .       g.9385
 gcctccctccctcagcccggctgggactgtctcccggaccccagtgctggggtgggggaa       c.*480

          .         .         .         .         .         .       g.9445
 gggggacggagaatgactcaggcagggccccagggtggggtgaggaggttcctgctctgg       c.*540

          .         .         .         .         .         .       g.9505
 caggtctaggcggaagggagtggagatggggctggttcctgctgcagtgaggggaacaga       c.*600

          .         .         .         .         .         .       g.9565
 tgggacaataaagactggagactcagttgaataatacaaaactgtttaatactaccaaaa       c.*660

                                                                    g.9566
 a                                                                  c.*661

 (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 Mannose-P-dolichol utilization defect 1 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.