(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.(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:
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