NLR family, pyrin domain containing 12 (NLRP12) - coding DNA reference sequence

(used for mutation description)

(last modified May 2, 2014)

This file was created to facilitate the description of sequence variants in the NLRP12 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering NLRP12 transcript NM_144687.3.

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

 (upstream sequence)
          .         .         .         .         .         .       g.60
 CAGAGGACTCGGAGTTTGCAGCCAGGATGGCTCAGCCGCTTGCAAAGCAGTCGGACACCT       c.60
 Q  R  T  R  S  L  Q  P  G  W  L  S  R  L  Q  S  S  R  T  P         p.20

          .         .         .                                     g.90
 GTGTCCCCTAGGGCGTTGTTGGTCAGGTAA                                     c.90
 V  S  P  R  A  L  L  V  R  X                                       p.29

          .         .         .         .         .         .       g.150
 aggtcggtcaaggtctggttgatccccagggtgaagtaaagattctcacaagccttggct       c.*60

          .         .  | 02      .         .         .         .    g.2423
 gtgaggccacagctatccagc | cacagtttctggagtctgcaggcgggatgttgcagcccc    c.*120

          .         .         .         .         .         .       g.2483
 tcagccagcaaccacaggccccagtctcccaggtcgttgaaactcaagtccagctcccgg       c.*180

          .         .         .         .         .         .       g.2543
 aggttgtggttggcctggagcaccacagaaagaccctcacaggcggcagagcccagccgg       c.*240

          .   | 03     .         .         .         .         .    g.5416
 cagatgcccaac | cgcagggtctggagcttgcacgtgggatgcctgaggccctcacacagc    c.*300

          .         .         .         .         .         .       g.5476
 agcagcaccccgaggtcccccagctcattcaggctcaggtccagctctctcaggctctgg       c.*360

          .         .         .         .         .         .       g.5536
 ttcacactgagagttgaggccagctcgtcacaggcagcagcagtgaggcggcagatcttc       c.*420

     | 04    .         .         .         .         .         .    g.8150
 agc | cacaaagtccgtagtctgcagactgggtgcctcagtccctggcatagtaacctcagg    c.*480

          .         .         .         .         .         .       g.8210
 cccaaatcctccagtgcatttcctgtcaggtccaactcaaccagatgtgggttggtgccg       c.*540

          .         .         .         .         .     | 05   .    g.9427
 agcacagaagccatctcctgacaagccccggactccagctgacacttcctcaac | tgaatc    c.*600

          .         .         .         .         .         .       g.9487
 atctgcagcctgcactggggatgccgcaggccctcgcaaagcagcatcatgcctgggaat       c.*660

          .         .         .         .         .         .       g.9547
 ccaacgccgttgccactgagatccatccttgtcaaattcttattggctatgagagctgca       c.*720

          .         .         .         .      | 06  .         .    g.11651
 gagaggtcctcgcaggctgagctggagatgcggcacctcttcagc | ctcaggttctgaagt    c.*780

          .         .         .         .         .         .       g.11711
 ttgcagttggggtgtctgagtccttgacagagcagcttcaccccccggctgcccagggca       c.*840

          .         .         .         .         .         .       g.11771
 tttcggtacagagacagctctatcaggtttggattggtgcacagggccgctgccagatgt       c.*900

          .         .         .       | 07 .         .         .    g.13752
 tcactgtaggcgtccagcagaacggtcctctctggt | agctgcaccaacagcgtgtgcgct    c.*960

          .         .         .         .         .         .       g.13812
 cctgcggagcacctcgcgcggtcttccccgtccgcgctgtaggtggcgccatacaagtgc       c.*1020

          .         .         .         .         .         .       g.13872
 agcacctgggcgctcctgcagcgcttcagacagaacgaggagaccatgtgctccatcttg       c.*1080

          .         .         .         .         .         .       g.13932
 gaggcaatgttgctgaccacgatcacctggaagtggctcagggcctgctggataaactcc       c.*1140

          .         .         .         .         .         .       g.13992
 tcctcctggatctcgtacaagcagctgaagaactccaaggagccctgctgcagggtggag       c.*1200

          .         .         .         .         .         .       g.14052
 ccgtcgctctgagctttgctttggatccactgcaacaggtccatcttgatgtgcggcgag       c.*1260

          .         .         .         .         .         .       g.14112
 accttccagcagagactcttctccaggtggctcctggtctcctcgttcaggagtccaaac       c.*1320

          .         .         .         .         .         .       g.14172
 aggaagcggctggtgagtgccaggaagctcctttcagaaaacgcgtactcggtcaacagc       c.*1380

          .         .         .         .         .         .       g.14232
 ctggtcacgtcctggtctgggcctgccccgccctccccctcgtccaggatatagtacata       c.*1440

          .         .         .         .         .         .       g.14292
 gctgcaaagaattcctggaaactcaagtggatgaagctgtagtacctctcacagttgatg       c.*1500

          .         .         .         .         .         .       g.14352
 tccttctggaagatgttcatgttgaggaaggcagagacgtcttccccgtctaggccgtgc       c.*1560

          .         .         .         .         .         .       g.14412
 ttccggaggtcctgctcctcaaataggattttctgattccagagcccatctgccgccaag       c.*1620

          .         .         .         .         .         .       g.14472
 gagcacaaccctctctggttgggtgggggctggaggcgcggggcccccggcttgggttgc       c.*1680

          .         .         .         .         .         .       g.14532
 atcagactcagcaggtagagcatgtacactgcagtggtggtcctggacgtctgtctcaac       c.*1740

          .         .         .         .         .         .       g.14592
 agccccccaccctccagctgctgctggaggcaggtacacaccacccagcacaccaggggg       c.*1800

          .         .         .         .         .         .       g.14652
 acgaagcacatggtgaagagaggctcgttgtccctcacgtaattgaagacttggcccgcc       c.*1860

          .         .         .         .         .         .       g.14712
 tgctctgcattgtggaaatacttgtagaagtattccttcctttctgcctcagagaagccc       c.*1920

          .         .         .         .         .         .       g.14772
 aggatctccacatgcctggggtgctccagcagacggtggagcttctccaaagccgtgggc       c.*1980

          .         .         .         .         .         .       g.14832
 cgtgtggtgatgagcaaagatagctcagggagcagcttcttccgaattaagctgttaaga       c.*2040

          .         .         .         .         .         .       g.14892
 agcagctccgtgggccgtttctcctcccagcagaggcaccagggtccctgaggatcgtgg       c.*2100

          .         .         .         .         .         .       g.14952
 aaagaaggcttgagctcatcgaagccgtcgatgatgaaaaggaggcgctcgggaactcgg       c.*2160

          .         .         .         .         .         .       g.15012
 atgagctcctggagaggcgcgctgggctcaggccagcagctgaagatgaggtcttgcatg       c.*2220

          .         .         .         .         .         .       g.15072
 ctgcattccgtggcactctggttcatctccctgcagttgatgtagaagagataatcaaat       c.*2280

          .         .         .         .         .         .       g.15132
 ctgccttggaagagcttcccgtccgcccagtccagcatcaccttgtgtgccagcatggac       c.*2340

          .         .         .         .         .         .       g.15192
 ttgcctatccctgccgcgccttgcatgaccacggtgcgcggtggctcggggcgctcctcg       c.*2400

          .         .         .         .         .         .       g.15252
 tctggctcaaagagggtctctatcttgatggggctagcctggtgtcccacggtcctcgcg       c.*2460

          .         .         .         .         .         .       g.15312
 tgtccccggcctgtgtccagaagctgctgctggacctgcatggggtttgagtgctccttc       c.*2520

          .         .         .         .         .         .       g.15372
 accagcaggagccgggtgtaccggtggctgaggttgacacattcccctaggcgcgcattg       c.*2580

          .         .         .         .         .         | 08    g.19051
 cggtcttccatgagccggaatttcctgcggacatagtccctgtaggtttcctggggat | ct    c.*2640

          .         .         .         .         .         .       g.19111
 tttcttggagtgacaagagagacttccagaaggcatgttgactggttcccaagtgaggac       c.*2700

          .          | 09        .         .         .         .    g.28068
 gggccaccaggtggggtat | ccctcaccaggtcctctctctgtcctctctcccacaggtcc    c.*2760

          .         .         .         .         .         .       g.28128
 ttcctgtttatccgctcaaaggtgctgagagccaacctccaggcctcctctggcccgaag       c.*2820

          .         .         .         .         .         .       g.28188
 tgggtgatgagcagctgggccatttccaggggaccggccttctccatgcttccccagggg       c.*2880

          .         .         .         .         .         .       g.28248
 atcttgccttctcccagctctgtcgcggtccccaggtataacttgaacttcttcagttcc       c.*2940

          .         .         .         .         .         .       g.28308
 acagcctcgagttcttccaagtaggtggacaggcgacagaggccgtccctgcctgcggtt       c.*3000

          .         .         .         .         .         .       g.28368
 cgtagcatgggggtgccgtgagccccaaaggagaggacctggaggctgagatgctcctat       c.*3060

          .         .         .         .         .         .       g.28428
 gcacgggacacagggcgaccccagcacaccttccattgcatcattcacaggcagcgggcg       c.*3120

          .         .         .         .         .         .       g.28488
 gagaggctgagccagtggttggaggagagagcaagggaggaaagaccttttgctgaaata       c.*3180

          .         .         .         .         .        | 10.      g.28548
 atgctttctcactcttcagttccctcctgccctgccccactcaccaatggctgttct | g      c.*3238

 (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 NLR family, pyrin domain containing 12 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.