microspherule protein 1 (MCRS1) - coding DNA reference sequence

(used for variant description)

(last modified January 4, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_001012300.1 in the MCRS1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering MCRS1 transcript NM_001012300.1.

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

 (upstream sequence)
          .         .         .         .          | 02        .    g.235
 ATGACACGTGGCACCGGGGGAACTGCCCAGCGTGGAAGGTCTGGGCCAG | ATTCTCAGGGG    c.60
 M  T  R  G  T  G  G  T  A  Q  R  G  R  S  G  P  D |   S  Q  G      p.20

          .         .         .         .         .         .       g.295
 CTGCTAGATTCATCCCTGATGGCATCAGGCACTGCCAGCCGCTCAGAGGATGAGGAGTCA       c.120
 L  L  D  S  S  L  M  A  S  G  T  A  S  R  S  E  D  E  E  S         p.40

          .         .         .         .         .         .       g.355
 CTGGCAGGGCAGAAGCGAGCCTCCTCCCAGGCCTTGGGCACCATCCCTAAACGGAGAAGC       c.180
 L  A  G  Q  K  R  A  S  S  Q  A  L  G  T  I  P  K  R  R  S         p.60

          | 03         .         .         .         .         .    g.824
 TCCTCCAG | GTTCATCAAGAGGAAGAAGTTCGATGATGAGCTGGTGGAGAGCAGCCTGGCA    c.240
 S  S  R  |  F  I  K  R  K  K  F  D  D  E  L  V  E  S  S  L  A      p.80

          .         .         .         .         .         .       g.884
 AAATCTTCTACCCGGGCAAAGGGGGCCAGTGGGGTGGAACCAGGGCGCTGTTCGGGGAGT       c.300
 K  S  S  T  R  A  K  G  A  S  G  V  E  P  G  R  C  S  G  S         p.100

          .         .        | 04.         .         .         .    g.1577
 GAACCCTCCTCCAGTGAGAAGAAGAAG | GTATCCAAAGCCCCCAGCACTCCTGTGCCACCC    c.360
 E  P  S  S  S  E  K  K  K   | V  S  K  A  P  S  T  P  V  P  P      p.120

          .         .         .         .         .         .       g.1637
 AGCCCAGCCCCAGCCCCTGGACTCACCAAGCGTGTGAAGAAGAGTAAACAGCCACTTCAG       c.420
 S  P  A  P  A  P  G  L  T  K  R  V  K  K  S  K  Q  P  L  Q         p.140

          .         .         .         .         .         .       g.1697
 GTGACCAAGGATCTGGGCCGCTGGAAGCCTGCAGATGACCTCCTGCTCATAAATGCTGTG       c.480
 V  T  K  D  L  G  R  W  K  P  A  D  D  L  L  L  I  N  A  V         p.160

        | 05 .         .         .         .         .         .    g.1903
 TTGCAG | ACCAACGACCTGACCTCCGTCCACCTGGGCGTGAAATTCAGCTGCCGCTTCACC    c.540
 L  Q   | T  N  D  L  T  S  V  H  L  G  V  K  F  S  C  R  F  T      p.180

          .         .         .         .         .       | 06 .    g.2897
 CTTCGGGAGGTCCAGGAGCGTTGGTACGCCCTGCTCTACGATCCTGTCATCTCCAA | GTTG    c.600
 L  R  E  V  Q  E  R  W  Y  A  L  L  Y  D  P  V  I  S  K  |  L      p.200

          .         .         .         .         .         .       g.2957
 GCCTGTCAGGCCATGAGGCAGCTGCACCCAGAGGCTATTGCAGCCATCCAGAGCAAGGCC       c.660
 A  C  Q  A  M  R  Q  L  H  P  E  A  I  A  A  I  Q  S  K  A         p.220

          .         .         .         .      | 07  .         .    g.3315
 CTGTTTAGCAAGGCTGAGGAGCAGCTGCTGAGCAAAGTGGGATCG | ACCAGCCAGCCCACC    c.720
 L  F  S  K  A  E  E  Q  L  L  S  K  V  G  S   | T  S  Q  P  T      p.240

          .         .         .         .         .         .       g.3375
 TTGGAGACCTTCCAGGACCTGCTGCACAGACACCCTGATGCCTTCTACCTGGCCCGTACC       c.780
 L  E  T  F  Q  D  L  L  H  R  H  P  D  A  F  Y  L  A  R  T         p.260

          .         .         .         .         .         .       g.3435
 GCGAAGGCCCTGCAGGCCCACTGGCAGCTCATGAAGCAGTATTACCTGCTGGAGGACCAG       c.840
 A  K  A  L  Q  A  H  W  Q  L  M  K  Q  Y  Y  L  L  E  D  Q         p.280

      | 08   .         .         .         .         .         .    g.6125
 ACAG | TGCAGCCGCTGCCCAAAGGGGACCAAGTGCTGAACTTCTCTGATGCAGAGGACCTG    c.900
 T  V |   Q  P  L  P  K  G  D  Q  V  L  N  F  S  D  A  E  D  L      p.300

          .         . | 09       .         .          | 10        . g.6629
 ATTGATGACAGTAAGCTCAA | GGACATGCGAGATGAGGTCCTGGAACATG | AGCTGATGGTG c.960
 I  D  D  S  K  L  K  |  D  M  R  D  E  V  L  E  H  E |   L  M  V   p.320

          .         .         .         .         .         .       g.6689
 GCTGACCGGCGCCAGAAGCGAGAGATTCGGCAGCTGGAACAGGAACTGCATAAGTGGCAG       c.1020
 A  D  R  R  Q  K  R  E  I  R  Q  L  E  Q  E  L  H  K  W  Q         p.340

          .         .   | 11     .         .         .         .    g.6942
 GTGCTAGTGGACAGCATCACAG | GCATGAGCTCTCCGGACTTCGACAACCAGACACTGGCA    c.1080
 V  L  V  D  S  I  T  G |   M  S  S  P  D  F  D  N  Q  T  L  A      p.360

          .         .         .         .      | 12  .         .    g.7153
 GTGCTGCGGGGCCGCATGGTGCGGTACCTGATGCGCTCGCGTGAG | ATCACCCTGGGCAGA    c.1140
 V  L  R  G  R  M  V  R  Y  L  M  R  S  R  E   | I  T  L  G  R      p.380

          .         .         .         .         .         .       g.7213
 GCAACCAAGGATAACCAGATTGATGTGGACCTGTCTCTGGAGGGTCCGGCCTGGAAGATA       c.1200
 A  T  K  D  N  Q  I  D  V  D  L  S  L  E  G  P  A  W  K  I         p.400

          .    | 13    .         .         .         .         .    g.7516
 TCCCGGAAACAAG | GTGTCATCAAGCTGAAGAACAACGGTGATTTCTTCATTGCCAATGAG    c.1260
 S  R  K  Q  G |   V  I  K  L  K  N  N  G  D  F  F  I  A  N  E      p.420

          .         .         .         .         .         .       g.7576
 GGTCGACGGCCCATCTACATCGATGGACGGCCGGTGCTCTGTGGCTCCAAATGGCGCCTC       c.1320
 G  R  R  P  I  Y  I  D  G  R  P  V  L  C  G  S  K  W  R  L         p.440

          .         .  | 14      .         .         .         .    g.7749
 AGCAACAACTCTGTGGTGGAG | ATCGCCAGCCTGCGATTCGTCTTCCTTATCAACCAGGAC    c.1380
 S  N  N  S  V  V  E   | I  A  S  L  R  F  V  F  L  I  N  Q  D      p.460

          .         .         .         .                           g.7797
 CTCATTGCCCTCATCAGGGCTGAGGCTGCCAAGATCACACCACAGTGA                   c.1428
 L  I  A  L  I  R  A  E  A  A  K  I  T  P  Q  X                     p.475

          .         .         .         .         .         .       g.7857
 ggagtggtggcaggactcgtgggccctctccggcctgtttcccctgccactccagccccc       c.*60

          .         .         .         .         .         .       g.7917
 ttgagctgggaactcaggctcctggaaaaacctgggcagtgggaggctcagctgcgggcc       c.*120

          .         .         .         .         .         .       g.7977
 attgatttgagcctttgagggaggatagggctggcctttgtgaagccagcagaggctgag       c.*180

          .         .         .         .         .         .       g.8037
 aacctcaggcttccctagatccagagcccctccccatcttcctctctctaaaaacaaccc       c.*240

          .         .         .         .         .         .       g.8097
 taccccccattgccaccttcactcctgtgtctccagctgattagcctcagactcttcttt       c.*300

          .         .         .         .                           g.8138
 tattgtttttcttttgtaaataaaaagcaccaggttccaaa                          c.*341

 (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 Microspherule protein 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.