(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the RPL15 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering RPL15 transcript NM_002948.3.(upstream sequence) . . g.1020 aaagacagcggctccaccgc c.-361 . . . . . . g.1080 ggtacgcggccaccggctttggagcctggaccccaacttgcctcctctcgcggagagaca c.-301 . . . . . . g.1140 gtcgccgacgctcgcttagccgccgagacctcgccgccaactctctcacctctcgagacg c.-241 . . . . . . g.1200 cccaggccgctcaggctcgaatcttgcggagcagggggcgggacaatagcggccgcggcg c.-181 . . . . . . g.1260 ccccactcggcagaactccgccaccaggcgcgatgccggaactacatgtcccatgacgct c.-121 . . . . . . g.1320 ctgggaggccgcagctttccaccggaaagagggtggctgaggtgggggaggagcccaaaa c.-61 . . . . . | 02 g.2056 ggcattgtgggagtacagctctttcctttccgtctggcggcagccatcag | gtaagccaag c.-1 . . . . . . g.2116 ATGGGTGCATACAAGTACATCCAGGAGCTATGGAGAAAGAAGCAGTCTGATGTCATGCGC c.60 M G A Y K Y I Q E L W R K K Q S D V M R p.20 . . . . . . g.2176 TTTCTTCTGAGGGTCCGCTGCTGGCAGTACCGCCAGCTCTCTGCTCTCCACAGGGCTCCC c.120 F L L R V R C W Q Y R Q L S A L H R A P p.40 . . . . . | 03 . g.2644 CGCCCCACCCGGCCTGATAAAGCGCGCCGACTGGGCTACAAGGCCAAGCAAG | GTTACGTT c.180 R P T R P D K A R R L G Y K A K Q G | Y V p.60 . . . . . . g.2704 ATATATAGGATTCGTGTTCGCCGTGGTGGCCGAAAACGCCCAGTTCCTAAGGGTGCAACT c.240 I Y R I R V R R G G R K R P V P K G A T p.80 . . . . . . g.2764 TACGGCAAGCCTGTCCATCATGGTGTTAACCAGCTAAAGTTTGCTCGAAGCCTTCAGTCC c.300 Y G K P V H H G V N Q L K F A R S L Q S p.100 | 04 . . . . . g.3443 GTTGCAGAG | GAGCGAGCTGGACGCCACTGTGGGGCTCTGAGAGTCCTGAATTCTTACTGG c.360 V A E | E R A G R H C G A L R V L N S Y W p.120 . . . . . . g.3503 GTTGGTGAAGATTCCACATACAAATTTTTTGAGGTTATCCTCATTGATCCATTCCATAAA c.420 V G E D S T Y K F F E V I L I D P F H K p.140 . . . . . . g.3563 GCTATCAGAAGAAATCCTGACACCCAGTGGATCACCAAACCAGTCCACAAGCACAGGGAG c.480 A I R R N P D T Q W I T K P V H K H R E p.160 . . . . . . g.3623 ATGCGTGGGCTGACATCTGCAGGCCGAAAGAGCCGTGGCCTTGGAAAGGGCCACAAGTTC c.540 M R G L T S A G R K S R G L G K G H K F p.180 . . . . . . g.3683 CACCACACTATTGGTGGCTCTCGCCGGGCAGCTTGGAGAAGGCGCAATACTCTCCAGCTC c.600 H H T I G G S R R A A W R R R N T L Q L p.200 . g.3698 CACCGTTACCGCTAA c.615 H R Y R X p.204 . . . . . . g.3758 tataagtaaagtttgtaaaattcatacttaataaacaatttaggacagtcatgtctgctt c.*60 . . . . . . g.3818 acaggtgttatttgtctgttaaaactagtctgcagatgtttcttgaatgctttgtcaaat c.*120 . . . . . . g.3878 taagaaagttaaagtgcaataatgtttgaagacaataagtggtggtgtatcttgtttcta c.*180 . . . . . . g.3938 ataagataaacttttttgtctttgctttatcttattagggagttgtatgtcagtgtataa c.*240 . . . . . . g.3998 aacatactgtgtggtataacaggcttaataaattctttaaaaggagagaactgaaactag c.*300 . . . . . . g.4058 ccctgtagatttgtctggtgcatgtgatgaaacctgcagctttatcggagtgatggcaat c.*360 . . . . . . g.4118 gctctgctggtttattttcaagtggctgcgttttttttagtttggcaggtgtagactttt c.*420 . . . . . . g.4178 taagttgggctttagaaaatctgggttagcctgaagaaaattgcctcagcctccacagta c.*480 . . . . . . g.4238 ccattttaaattcacataaaaggtgaaagctcctggttcagtgccatggcttcatggcat c.*540 . . . . . . g.4298 tcagtgattagtggtaatggtaaacactggtgtgttttgaagttgaatgtgcgataaaat c.*600 . . . . . . g.4358 tattagccttaagattggtaagctagcaatgaatgctagggtgggaagctggtgagccag c.*660 . . . . . . g.4418 tggccattagataaatacctttcaagtgtgagcttagacgtcaaccctaaaatacttaac c.*720 . . . . . . g.4478 cgtaatgctaattgtgatcattatgaatcccttcagtcacattagggggaaagtagttgg c.*780 . . . . . . g.4538 ctataagtacgtcattcttagtccagtcagtcttaaaaacatcttgggttacccactctg c.*840 . . . . . . g.4598 tccactcccataggctacagaaaaagtcacaagcgcatggtttccaaccatatgtgtttt c.*900 . . . . . . g.4658 ctgcagttatttctcttgttctggccaaacaaccctaaaaatccttaccattccacaaag c.*960 . . . . . . g.4718 ttggaccatcacttgtgcacccactttgactatgagtataccaccacattgcatttctgt c.*1020 . . . . . . g.4778 ttgcaccatgtcttccaggagactagactactgttgtccagggtcaatttgagtgtaaag c.*1080 . . . . . . g.4838 aaaatgtagacaaggaattgcccaattttaaattctgactttgctgacttaatttaaatg c.*1140 . . . . . . g.4898 ctcgttctgaaccaattttctcctatcttctctaggggtttcaaaagactcagttaattg c.*1200 . . . . . . g.4958 atttccaggaagtactcatagcaagttcataaaagttcttgagacctaaatttcttcaca c.*1260 . . . . . . g.5018 aaaaaagaaaagatcttaagtcatacattttaattgtgtagaggttgttcaactgaagga c.*1320 . . . g.5053 ataaatgtctattaaactaaaacaaatggaccttc c.*1355 (downstream sequence)Legend:
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