mitochondrial ribosomal protein S22 (MRPS22) - coding DNA reference sequence

(used for variant description)

(last modified January 8, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_020191.2 in the MRPS22 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012174.1, covering MRPS22 transcript NM_020191.2.

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

 (upstream sequence)
                                                                    g.5008
                                                     tgataatc       c.-1

          .         .         .         .         .         .       g.5068
 ATGGCGCCCCTCGGAACAACTGTATTGCTGTGGAGCCTCTTGAGGAGTTCTCCGGGCGTG       c.60
 M  A  P  L  G  T  T  V  L  L  W  S  L  L  R  S  S  P  G  V         p.20

          .         .         .         .         .         .       g.5128
 GAACGGGTCTGTTTCCGGGCTCGAATCCAGCCCTGGCACGGTGGCCTGCTCCAACCGCTA       c.120
 E  R  V  C  F  R  A  R  I  Q  P  W  H  G  G  L  L  Q  P  L         p.40

          .         .         .         .         .   | 02     .    g.7867
 CCTTGCTCTTTCGAGATGGGGCTGCCACGCCGCCGGTTCAGCTCCGAGGCCG | CAGAATCT    c.180
 P  C  S  F  E  M  G  L  P  R  R  R  F  S  S  E  A  A |   E  S      p.60

          .         .         .         .         .         .       g.7927
 GGTAGCCCAGAGACCAAGAAACCTACATTTATGGATGAGGAAGTTCAAAGCATACTCACG       c.240
 G  S  P  E  T  K  K  P  T  F  M  D  E  E  V  Q  S  I  L  T         p.80

          .         .         .         .         .         .       g.7987
 AAAATGACAGGCTTGAACTTGCAGAAGACTTTTAAGCCAGCTATACAAGAACTGAAGCCA       c.300
 K  M  T  G  L  N  L  Q  K  T  F  K  P  A  I  Q  E  L  K  P         p.100

          .         .         .          | 03        .         .    g.9162
 CCAACCTATAAGCTAATGACTCAGGCACAGTTGGAAGAG | GCTACAAGACAGGCAGTTGAG    c.360
 P  T  Y  K  L  M  T  Q  A  Q  L  E  E   | A  T  R  Q  A  V  E      p.120

          .         .         .         .         .         .       g.9222
 GCAGCTAAAGTACGATTAAAAATGCCACCAGTTCTGGAAGAGCGAGTACCAATAAATGAT       c.420
 A  A  K  V  R  L  K  M  P  P  V  L  E  E  R  V  P  I  N  D         p.140

          .         .         .         .         .         .       g.9282
 GTGTTAGCTGAAGATAAGATTTTGGAAGGAACAGAAACAACCAAATATGTGTTTACTGAT       c.480
 V  L  A  E  D  K  I  L  E  G  T  E  T  T  K  Y  V  F  T  D         p.160

          .         .     | 04   .         .         .         .    g.11196
 ATATCATATAGCATACCACACCGG | GAGCGTTTTATTGTCGTCAGAGAACCAAGTGGCACA    c.540
 I  S  Y  S  I  P  H  R   | E  R  F  I  V  V  R  E  P  S  G  T      p.180

          .         .         .         .         .         .       g.11256
 CTACGCAAAGCCTCTTGGGAAGAACGGGACCGAATGATACAAGTTTATTTCCCAAAAGAA       c.600
 L  R  K  A  S  W  E  E  R  D  R  M  I  Q  V  Y  F  P  K  E         p.200

          .         .         .         .         | 05         .    g.11970
 GGTCGTAAAATTTTGACACCAATAATTTTCAAGGAAGAAAATCTTAGG | ACTATGTATAGC    c.660
 G  R  K  I  L  T  P  I  I  F  K  E  E  N  L  R   | T  M  Y  S      p.220

          .         .         .         .         .         .       g.12030
 CAGGACAGGCATGTTGATGTCCTCAATCTCTGCTTTGCCCAGTTTGAGCCAGATTCCACA       c.720
 Q  D  R  H  V  D  V  L  N  L  C  F  A  Q  F  E  P  D  S  T         p.240

          .   | 06     .         .         .         .         .    g.13676
 GAGTATATCAAG | GTTCATCACAAGACCTATGAAGATATAGATAAACGTGGAAAATATGAC    c.780
 E  Y  I  K   | V  H  H  K  T  Y  E  D  I  D  K  R  G  K  Y  D      p.260

          .         .         .         .         .         .       g.13736
 CTTTTACGTTCAACAAGATACTTTGGTGGAATGGTGTGGTATTTTGTAAATAATAAAAAG       c.840
 L  L  R  S  T  R  Y  F  G  G  M  V  W  Y  F  V  N  N  K  K         p.280

          .         .         .         | 07         .         .    g.16685
 ATTGATGGTTTGCTGATTGACCAGATTCAGAGAGATTT | AATCGATGATGCAACCAACTTG    c.900
 I  D  G  L  L  I  D  Q  I  Q  R  D  L  |  I  D  D  A  T  N  L      p.300

          .         .         .         .         .         .       g.16745
 GTCCAGCTGTATCACGTGCTCCATCCAGATGGCCAGTCGGCTCAAGGGGCCAAGGATCAG       c.960
 V  Q  L  Y  H  V  L  H  P  D  G  Q  S  A  Q  G  A  K  D  Q         p.320

          .         .        | 08.         .         .         .    g.17933
 GCTGCTGAGGGAATAAATTTAATCAAG | GTCTTTGCAAAAACAGAAGCACAGAAGGGAGCC    c.1020
 A  A  E  G  I  N  L  I  K   | V  F  A  K  T  E  A  Q  K  G  A      p.340

          .         .         .         .         .         .       g.17993
 TATATAGAACTAACACTGCAGACTTATCAAGAAGCACTCAGTCGCCATTCTGCAGCTTCC       c.1080
 Y  I  E  L  T  L  Q  T  Y  Q  E  A  L  S  R  H  S  A  A  S         p.360

                                                                    g.17996
 TAA                                                                c.1083
 X                                                                  p.360

          .         .         .                                     g.18028
 aaatattttaaaaatacatttattttactaaa                                   c.*32

 (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 Mitochondrial ribosomal protein S22 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.