Zinc MetalloPeptidase (STE24 homolog, yeast) (ZMPSTE24) - coding DNA reference sequence

(used for mutation description)

(last modified April 17, 2009)


This file was created to facilitate the description of sequence variants in the ZMPSTE24 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008695.1, covering ZMPSTE24 transcript NM_005857.3.

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


 (upstream sequence)
                               .         .         .                g.5031
                              agaaactaggagggactagggagagtctgca       c.-181

 .         .         .         .         .         .                g.5091
 aggggaagagtgtgtctgtgacactgccagcagcgcgcagagggagggatgggggcgggt       c.-121

 .         .         .         .         .         .                g.5151
 atcggcgtaggggccctcggaaagaacggatattgctgtgacaccgcggggacgctctga       c.-61

 .         .         .         .         .         .                g.5211
 agggacgagtgtcggtgtggcaccggtgcacgctgaaggagccggcggaaccgggtggcc       c.-1

          .         .         .         .         .         .       g.5271
 ATGGGGATGTGGGCATCGCTGGACGCTTTGTGGGAGATGCCGGCCGAGAAGCGTATCTTC       c.60
 M  G  M  W  A  S  L  D  A  L  W  E  M  P  A  E  K  R  I  F         p.20

          .         .         .         .         .         .       g.5331
 GGGGCCGTGCTGCTCTTTTCCTGGACAGTGTATCTTTGGGAGACCTTCCTAGCACAGCGG       c.120
 G  A  V  L  L  F  S  W  T  V  Y  L  W  E  T  F  L  A  Q  R         p.40

     | 02    .         .         .         .         .         .    g.7835
 CAG | AGAAGGATATATAAAACAACAACTCATGTACCACCGGAGTTAGGACAGATCATGGAT    c.180
 Q   | R  R  I  Y  K  T  T  T  H  V  P  P  E  L  G  Q  I  M  D      p.60

          .         .         .         .         .         .       g.7895
 TCTGAAACATTTGAGAAATCTCGACTCTATCAACTGGATAAAAGCACTTTCAGCTTCTGG       c.240
 S  E  T  F  E  K  S  R  L  Y  Q  L  D  K  S  T  F  S  F  W         p.80

          .         .         . | 03       .         .         .    g.14755
 TCAGGACTCTATTCAGAGACTGAAGGCACT | CTTATTCTTCTCTTTGGAGGAATACCTTAT    c.300
 S  G  L  Y  S  E  T  E  G  T   | L  I  L  L  F  G  G  I  P  Y      p.100

          .         .         .         .         .        | 04.    g.15361
 CTCTGGAGACTTTCTGGACGGTTCTGTGGTTATGCTGGCTTTGGACCAGAATATGAG | ATC    c.360
 L  W  R  L  S  G  R  F  C  G  Y  A  G  F  G  P  E  Y  E   | I      p.120

          .         .         .         .         .         .       g.15421
 ACTCAGTCCCTGGTGTTTCTGCTGTTGGCTACACTTTTCAGTGCATTGACTGGTTTGCCA       c.420
 T  Q  S  L  V  F  L  L  L  A  T  L  F  S  A  L  T  G  L  P         p.140

          .         .         .         .         .     | 05   .    g.16920
 TGGAGTCTTTATAATACTTTTGTGATAGAAGAAAAACATGGCTTCAATCAACAG | ACTTTG    c.480
 W  S  L  Y  N  T  F  V  I  E  E  K  H  G  F  N  Q  Q   | T  L      p.160

          .         .         .         .         .         .       g.16980
 GGGTTCTTCATGAAAGATGCAATCAAGAAATTTGTTGTGACTCAGTGTATTTTGTTGCCT       c.540
 G  F  F  M  K  D  A  I  K  K  F  V  V  T  Q  C  I  L  L  P         p.180

          .         .         .         .         .         .       g.17040
 GTGTCTTCACTTCTACTTTACATTATTAAAATTGGGGGTGACTATTTTTTTATTTATGCC       c.600
 V  S  S  L  L  L  Y  I  I  K  I  G  G  D  Y  F  F  I  Y  A         p.200

          .         .        | 06.         .         .         .    g.18866
 TGGCTGTTCACATTAGTTGTGTCTCTG | GTTCTTGTCACAATCTATGCTGATTATATTGCC    c.660
 W  L  F  T  L  V  V  S  L   | V  L  V  T  I  Y  A  D  Y  I  A      p.220

          .         .         .         .         .         .       g.18926
 CCTTTATTTGACAAATTCACACCTCTGCCTGAGGGAAAGCTTAAAGAAGAAATTGAAGTA       c.720
 P  L  F  D  K  F  T  P  L  P  E  G  K  L  K  E  E  I  E  V         p.240

          .         .         .         .          | 07        .    g.28293
 ATGGCAAAGAGTATTGACTTTCCTTTGACGAAGGTGTATGTTGTGGAAG | GATCTAAACGC    c.780
 M  A  K  S  I  D  F  P  L  T  K  V  Y  V  V  E  G |   S  K  R      p.260

          .         .         .         .         .         .       g.28353
 TCTTCCCACAGCAATGCTTATTTTTATGGCTTCTTCAAGAACAAGCGAATAGTTTTGTTT       c.840
 S  S  H  S  N  A  Y  F  Y  G  F  F  K  N  K  R  I  V  L  F         p.280

          .         .         .         .         .         .       g.28413
 GACACTCTACTAGAAGAGTACTCTGTACTAAACAAAGACATCCAGGAGGATTCTGGCATG       c.900
 D  T  L  L  E  E  Y  S  V  L  N  K  D  I  Q  E  D  S  G  M         p.300

          .         .         .         .         .     | 08   .    g.32870
 GAACCCCGCAATGAGGAAGAAGGGAACAGTGAAGAAATAAAAGCTAAAGTTAAA | AATAAG    c.960
 E  P  R  N  E  E  E  G  N  S  E  E  I  K  A  K  V  K   | N  K      p.320

          .         .         .         .         .         .       g.32930
 AAACAAGGATGTAAAAATGAGGAGGTACTCGCTGTACTAGGCCATGAACTGGGGCACTGG       c.1020
 K  Q  G  C  K  N  E  E  V  L  A  V  L  G  H  E  L  G  H  W         p.340

          .         .         .          | 09        .         .    g.37814
 AAGTTGGGACATACAGTCAAAAATATCATTATTAGCCAG | ATGAATTCTTTCCTGTGTTTT    c.1080
 K  L  G  H  T  V  K  N  I  I  I  S  Q   | M  N  S  F  L  C  F      p.360

          .         .         .         .         .         .       g.37874
 TTTTTATTTGCTGTATTAATTGGTCGAAAGGAGCTTTTTGCTGCATTTGGTTTTTATGAT       c.1140
 F  L  F  A  V  L  I  G  R  K  E  L  F  A  A  F  G  F  Y  D         p.380

          .         .         .         .         .         .       g.37934
 AGCCAACCCACTCTTATTGGACTATTGATCATCTTCCAGTTTATTTTTTCACCTTACAAT       c.1200
 S  Q  P  T  L  I  G  L  L  I  I  F  Q  F  I  F  S  P  Y  N         p.400

     | 10    .         .         .         .         .         .    g.39441
 GAG | GTTCTTTCTTTTTGCCTAACAGTCCTAAGCCGCAGATTTGAGTTTCAAGCTGATGCA    c.1260
 E   | V  L  S  F  C  L  T  V  L  S  R  R  F  E  F  Q  A  D  A      p.420

          .         .         .         .         .         .       g.39501
 TTTGCCAAGAAACTTGGGAAGGCTAAAGACTTATATTCTGCTTTAATCAAACTTAACAAA       c.1320
 F  A  K  K  L  G  K  A  K  D  L  Y  S  A  L  I  K  L  N  K         p.440

          .         .         .         .         .         .       g.39561
 GATAACTTGGGATTCCCTGTTTCTGACTGGTTGTTCTCAATGTGGCATTATTCTCATCCT       c.1380
 D  N  L  G  F  P  V  S  D  W  L  F  S  M  W  H  Y  S  H  P         p.460

          .         .         .         .                           g.39609
 CCACTGCTAGAGAGACTTCAAGCTTTGAAAACTATGAAGCAACACTGA                   c.1428
 P  L  L  E  R  L  Q  A  L  K  T  M  K  Q  H  X                     p.475

          .         .         .         .         .         .       g.39669
 gatgtccaggatctgtgactgaagacatttctgattatttctgtcctggcagcatgttcc       c.*60

          .         .         .         .         .         .       g.39729
 agctcttgatgtttttaaacttttttttagaagaaaaattaagtacagaaaagcccagat       c.*120

          .         .         .         .         .         .       g.39789
 ttaaatacatttaatatgtcattttaaaaatgattttaataattcatttcttaaaacact       c.*180

          .         .         .         .         .         .       g.39849
 gaatgaattttgaagcttaatgtttttaaaggcatagttttatctttgacatctaattta       c.*240

          .         .         .         .         .         .       g.39909
 ccatcaagttgtaaaattatttggaaaaatacagaactcgttttatttgtatacttatat       c.*300

          .         .         .         .         .         .       g.39969
 ggaatctgcatgtgaggtgtttgagggcatatgtttgaaagagggagcatcaccacagga       c.*360

          .         .         .         .         .         .       g.40029
 atcctttctgtgaggtggaaacagtggtcctgaatcattgtgctcacacctaacttgaaa       c.*420

          .         .         .         .         .         .       g.40089
 tctggtcttactttcatgctgttatgatttcacctggtgaatcagtgttttaaataagaa       c.*480

          .         .         .         .         .         .       g.40149
 aggtaatagttggtaaggccaatgttatttaaatgaaagtagttagaaaaatgctctcct       c.*540

          .         .         .         .         .         .       g.40209
 attctaccaaatttttaatttctttcttccctttcttgctacacagtgatcaagagtttc       c.*600

          .         .         .         .         .         .       g.40269
 tcatagtgctttgaagttagaaattatgtataggatattttaaatcattgagttttgtgg       c.*660

          .         .         .         .         .         .       g.40329
 ggtttttttgtttgtttgtttcttttgttttttggaaaatccgtgtctttatcttttttt       c.*720

          .         .         .         .         .         .       g.40389
 cccacgtggtagatatgatcccattggaggtaaattgtagcttcttctcattcatgcagt       c.*780

          .         .         .         .         .         .       g.40449
 aaataatacatcctttcactcagcagagatggccatattaaacacgttttgctatgttaa       c.*840

          .         .         .         .         .         .       g.40509
 aagtggcagaacaggaaagacgaattaaaaataacattttttaagcgacataaggatgaa       c.*900

          .         .         .         .         .         .       g.40569
 atactgatgaatctctgtgacattacagggaaaaaaatatagttttctatctctttcaag       c.*960

          .         .         .         .         .         .       g.40629
 ggcagaagagttttcatttttatttttgtaattttatctgtaagtcataaatattactta       c.*1020

          .         .         .         .         .         .       g.40689
 atcaggcctgattctacttttgaaaattacagttcttgaaatgcagataatgtttacttt       c.*1080

          .         .         .         .         .         .       g.40749
 gaaaacaaatgtcatgaatgatttccagtttttaaagctatatgtttcactgcttcatat       c.*1140

          .         .         .         .         .         .       g.40809
 ctctgtccactttctgaatgagaacttattttgtgcctagagctctcactcactgataat       c.*1200

          .         .         .         .         .         .       g.40869
 gcttattaccttctgggcatttattccaaagtgggatcaactgtacgcctttggtatctg       c.*1260

          .         .         .         .         .         .       g.40929
 accataaagtcttttgctccgctgacatttgggtgatgtcttcacatggaaatataataa       c.*1320

          .         .         .         .         .         .       g.40989
 aaataaaaatctagtttaatactgcattatttattttcctaaggctaaagaggagcagtc       c.*1380

          .         .         .         .         .         .       g.41049
 ctatgcttttattcagcatcctttatctgtgacttcatgctctgataactgcctttcctt       c.*1440

          .         .         .         .         .         .       g.41109
 ccttctgtgcctttgaatacaaatttcagttctgcaaaagtgaaacattaaacattgcca       c.*1500

          .                                                         g.41124
 acgcaaatgtatgta                                                    c.*1515

 (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 Zinc MetalloPeptidase (STE24 homolog, 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.


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