(used for variant description)
(last modified August 20, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_002905.3 in the RDH5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008606.1, covering RDH5 transcript NM_002905.3.
(upstream sequence)
g.5003
aat c.-181
. . . . . . g.5063
acgcctggcatccaagtccacccactccggactttggccttagcagtagttagtgtggga c.-121
. . . . . . g.5123
ggctgggaagactgggagcagtctcttaaacaaaagcaaaagaataagcttcgggcgctg c.-61
. . . | 02. . . g.5818
tagtacctgccagctttcgccacaggag | gctgccacctgtaggtcacttgggctccagct c.-1
. . . . . . g.5878
ATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGAC c.60
M W L P L L L G A L L W A V L W L L R D p.20
. . . . . . g.5938
CGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTT c.120
R Q S L P A S N A F V F I T G C D S G F p.40
. . . . . . g.5998
GGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTG c.180
G R L L A L Q L D Q R G F R V L A S C L p.60
. . . . . . g.6058
ACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTG c.240
T P S G A E D L Q R V A S S R L H T T L p.80
. . . . . . g.6118
TTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTT c.300
L D I T D P Q S V Q Q A A K W V E M H V p.100
. | 03 . . . . . g.6372
AAGGAAGCAG | GGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCC c.360
K E A G | L F G L V N N A G V A G I I G P p.120
. . . . . . g.6432
ACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCC c.420
T P W L T R D D F Q R V L N V N T M G P p.140
. . . . . . g.6492
ATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAAC c.480
I G V T L A L L P L L Q Q A R G R V I N p.160
. . . . . . g.6552
ATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTT c.540
I T S V L G R L A A N G G G Y C V S K F p.180
. . | 04 . . . g.8550
GGCCTGGAGGCCTTCTCTGACAGCCTGAG | GCGGGATGTAGCTCATTTTGGGATACGAGTC c.600
G L E A F S D S L R | R D V A H F G I R V p.200
. . . . . . g.8610
TCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAA c.660
S I V E P G F F R T P V T N L E S L E K p.220
. . . . . . g.8670
ACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCC c.720
T L Q A C W A R L P P A T Q A H Y G G A p.240
. | 05 . . . . . g.9002
TTCCTCACCAAGT | ACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGAC c.780
F L T K Y | L K M Q Q R I M N L I C D P D p.260
. . . . . . g.9062
CTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCGC c.840
L T K V S R C L E H A L T A R H P R T R p.280
. . . . . . g.9122
TACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGC c.900
Y S P G W D A K L L W L P A S Y L P A S p.300
. . . . . g.9179
CTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGA c.957
L V D A V L T W V L P K P A Q A V Y X p.318
. . . . . . g.9239
atccagccttccagcaagagattgtttttcaaggacaaggactttgatttatttctgccc c.*60
. . . . . . g.9299
ccaccctggtactgcctggtgcctgccacaaaataagcactaacaaaagtgtattgttta c.*120
. . . . . . g.9359
aaaaataaaaagaaggtgggcagaaatgtgcccagtggaaggctgaccccatttaagtgc c.*180
. g.9376
caactactccaaaccga c.*197
(downstream sequence)
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