(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)
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