mevalonate kinase (MVK) - coding DNA reference sequence

(used for mutation description)

(last modified April 30, 2014)

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

The sequence was taken from NC_000012.11, covering MVK transcript NM_000431.2.

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

 (upstream sequence)
                                                   .                g.1013
                                                attgaccaatgtt       c.-181

 .         .         .         .         .         .                g.1073
 caagcctattggtaaaggtactccgggctcgcgcgctctgattggctggcctgaagtaca       c.-121

 .         .         .         .         .         .                g.1133
 acgcctcctccccttgaggcacgggcgctctgggttgtgggagttggggagctgctccgg       c.-61

 .         .         .         .         .      | 02  .             g.2128
 cttcggcgcggaggggcggcggccggggaggcggcggcggcggcag | gattcccaggagcc    c.-1

          .         .         .         .         .         .       g.2188
 ATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACAT       c.60
 M  L  S  E  V  L  L  V  S  A  P  G  K  V  I  L  H  G  E  H         p.20

          .         | 03         .         .         .         .    g.3345
 GCCGTGGTACATGGCAAG | GTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGG    c.120
 A  V  V  H  G  K   | V  A  L  A  V  S  L  N  L  R  T  F  L  R      p.40

          .         .         .         .         .         .       g.3405
 CTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGG       c.180
 L  Q  P  H  S  N  G  K  V  D  L  S  L  P  N  I  G  I  K  R         p.60

          .         .         .         .       | 04 .         .    g.7121
 GCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTGG | AGCAAGGTGATGTC    c.240
 A  W  D  V  A  R  L  Q  S  L  D  T  S  F  L  E |   Q  G  D  V      p.80

          .         .         .         .         .         .       g.7181
 ACAACACCCACCTCAGAGCAAGTGGAGAAGCTAAAGGAGGTTGCAGGCTTGCCTGACGAC       c.300
 T  T  P  T  S  E  Q  V  E  K  L  K  E  V  A  G  L  P  D  D         p.100

          .         .         .         .         .         .       g.7241
 TGTGCTGTCACCGAGCGCCTGGCTGTGCTGGCCTTTCTTTACTTATACCTGTCCATCTGC       c.360
 C  A  V  T  E  R  L  A  V  L  A  F  L  Y  L  Y  L  S  I  C         p.120

          .  | 05      .         .         .         .         .    g.8749
 CGGAAGCAGAG | GGCCCTGCCGAGCCTGGATATCGTAGTGTGGTCGGAGCTGCCCCCCGGG    c.420
 R  K  Q  R  |  A  L  P  S  L  D  I  V  V  W  S  E  L  P  P  G      p.140

          .         .         .         .         .         .       g.8809
 GCGGGCTTGGGCTCCAGCGCCGCCTACTCGGTGTGTCTGGCAGCAGCCCTCCTGACTGTG       c.480
 A  G  L  G  S  S  A  A  Y  S  V  C  L  A  A  A  L  L  T  V         p.160

          .         .         .         .        | 06.         .    g.13340
 TGCGAGGAGATCCCAAACCCGCTGAAGGACGGGGATTGCGTCAACAG | GTGGACCAAGGAG    c.540
 C  E  E  I  P  N  P  L  K  D  G  D  C  V  N  R  |  W  T  K  E      p.180

          .         .         .         .         .         .       g.13400
 GATTTGGAGCTAATTAACAAGTGGGCCTTCCAAGGGGAGAGAATGATTCACGGGAACCCC       c.600
 D  L  E  L  I  N  K  W  A  F  Q  G  E  R  M  I  H  G  N  P         p.200

          .         .         .  | 07      .         .         .    g.14088
 TCCGGAGTGGACAATGCTGTCAGCACCTGGG | GAGGAGCCCTCCGATACCATCAAGGGAAG    c.660
 S  G  V  D  N  A  V  S  T  W  G |   G  A  L  R  Y  H  Q  G  K      p.220

          .        | 08.         .         .         .         .    g.18119
 ATTTCATCCTTAAAGAG | GTCGCCAGCTCTCCAGATCCTGCTGACCAACACCAAAGTCCCT    c.720
 I  S  S  L  K  R  |  S  P  A  L  Q  I  L  L  T  N  T  K  V  P      p.240

          .         .         .         .         | 09         .    g.18558
 CGCAATACCAGGGCCCTTGTGGCTGGCGTCAGAAACAGGCTGCTCAAG | TTCCCAGAGATC    c.780
 R  N  T  R  A  L  V  A  G  V  R  N  R  L  L  K   | F  P  E  I      p.260

          .         .         .         .         .         .       g.18618
 GTGGCCCCCCTCCTGACCTCAATAGATGCCATCTCCCTGGAGTGTGAGCGCGTGCTGGGA       c.840
 V  A  P  L  L  T  S  I  D  A  I  S  L  E  C  E  R  V  L  G         p.280

          .         .         .         .      | 10  .         .    g.22348
 GAGATGGGGGAAGCCCCAGCCCCGGAGCAGTACCTCGTGCTGGAA | GAGCTCATTGACATG    c.900
 E  M  G  E  A  P  A  P  E  Q  Y  L  V  L  E   | E  L  I  D  M      p.300

          .         .         .         .         .         .       g.22408
 AACCAGCACCATCTGAATGCCCTCGGCGTGGGCCACGCCTCTCTGGACCAGCTCTGCCAG       c.960
 N  Q  H  H  L  N  A  L  G  V  G  H  A  S  L  D  Q  L  C  Q         p.320

          .         .         .         .         .         .       g.22468
 GTGACCAGGGCCCGCGGACTTCACAGCAAGCTGACTGGCGCAGGCGGTGGTGGCTGTGGC       c.1020
 V  T  R  A  R  G  L  H  S  K  L  T  G  A  G  G  G  G  C  G         p.340

          .          | 11        .         .         .         .    g.23772
 ATCACACTCCTCAAGCCAG | GGCTGGAGCAGCCAGAAGTGGAGGCCACGAAGCAGGCCCTG    c.1080
 I  T  L  L  K  P  G |   L  E  Q  P  E  V  E  A  T  K  Q  A  L      p.360

          .         .         .         .         .         .       g.23832
 ACCAGCTGTGGCTTTGACTGCTTGGAAACCAGCATCGGTGCCCCCGGCGTCTCCATCCAC       c.1140
 T  S  C  G  F  D  C  L  E  T  S  I  G  A  P  G  V  S  I  H         p.380

          .         .         .         .         .                 g.23883
 TCAGCCACCTCCCTGGACAGCCGAGTCCAGCAAGCCCTGGATGGCCTCTGA                c.1191
 S  A  T  S  L  D  S  R  V  Q  Q  A  L  D  G  L  X                  p.396

          .         .         .         .         .         .       g.23943
 gaggagcccacgacactgcagccccacccagatgcccctttctggattattctgggggct       c.*60

          .         .         .         .         .         .       g.24003
 gcagttcgactctgtgctggccagcgagcgcccagctcctgacactgctggagaggcccc       c.*120

          .         .         .         .         .         .       g.24063
 agccgcttggcgatgccagccaagctctgcagtcccagcggtgggacctagggaggcatg       c.*180

          .         .         .         .         .         .       g.24123
 gtctgccctctgcatcctctggagccagccgagcaggaggcctaggagggtcctctgaga       c.*240

          .         .         .         .         .         .       g.24183
 ctccagacctgaggcgagaagggctgcttccctgaagctcccacagtcccatctgcttca       c.*300

          .         .         .         .         .         .       g.24243
 ggcccccgccttggcctgtgttcttcctggccgcctgggtccaatgctcaggtgctgggg       c.*360

          .         .         .         .         .         .       g.24303
 cctggttcccggagaagtgtgccttctctctcccttttcagggaccgccccctgtctctc       c.*420

          .         .         .         .         .         .       g.24363
 agggccaggcctctccctcctccaggaagccttcccctaccccttgtcgcccctccctcc       c.*480

          .         .         .         .         .         .       g.24423
 cagagcacctgctgtctgggtggctcactcagcacttggtgtggccttcccttctaccta       c.*540

          .         .         .         .         .         .       g.24483
 gcgggatggggctcccccaggggctgtcccggaggcggtgggcctggttaaataaggcag       c.*600

          .         .         .         .         .         .       g.24543
 ggtttatatgcactttcttccgatctgtacctgagaggtttgtggaaaagatggcaaatg       c.*660

          .         .                                               g.24572
 gggaataaaaagattttgtgtcaacagta                                      c.*689

 (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 Mevalonate kinase 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.