(used for variant description)
(last modified February 17, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_017825.2 in the ADPRHL2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering ADPRHL2 transcript NM_017825.2.
(upstream sequence)
. . . . . g.5053
aagtagggaaactgtgagggcggcaccggaagtggcgagcagtctgcgcgcgg c.-1
. . . . . . g.5113
ATGGCCGCAGCGGCGATGGCGGCAGCGGCAGGTGGAGGGGCTGGCGCGGCCCGCTCCCTC c.60
M A A A A M A A A A G G G A G A A R S L p.20
. . . . . . g.5173
TCGCGCTTCCGAGGCTGCCTGGCTGGCGCGCTGCTCGGGGACTGCGTGGGCTCCTTCTAC c.120
S R F R G C L A G A L L G D C V G S F Y p.40
. . . . . . g.5233
GAGGCCCACGACACCGTCGACCTGACGTCAGTCCTGCGTCATGTCCAGAGTCTGGAGCCG c.180
E A H D T V D L T S V L R H V Q S L E P p.60
. . . | 02 . . . g.7421
GACCCCGGCACGCCCGGGAGTGAGCGGACAG | AAGCCTTGTACTACACAGATGACACAGCC c.240
D P G T P G S E R T E | A L Y Y T D D T A p.80
. . . . . . g.7481
ATGGCCAGGGCCCTGGTGCAGTCCCTGCTAGCCAAGGAGGCCTTTGACGAGGTGGACATG c.300
M A R A L V Q S L L A K E A F D E V D M p.100
| 03 . . . . . g.7818
GCTCACAG | ATTTGCTCAGGAGTACAAGAAAGACCCTGACAGGGGCTATGGTGCTGGAGTA c.360
A H R | F A Q E Y K K D P D R G Y G A G V p.120
. . . . . . g.7878
GTCACTGTCTTCAAGAAGCTCCTGAACCCCAAATGTCGCGATGTCTTTGAGCCTGCCCGG c.420
V T V F K K L L N P K C R D V F E P A R p.140
. . . . . . g.7938
GCCCAGTTTAACGGGAAAGGCTCCTATGGCAATGGAGGTGCCATGCGGGTGGCTGGCATC c.480
A Q F N G K G S Y G N G G A M R V A G I p.160
. . . | 04 . . . g.8082
TCCCTGGCCTATAGCAGTGTCCAGGATGTGCAGAAG | TTTGCCCGGCTCTCGGCCCAGCTG c.540
S L A Y S S V Q D V Q K | F A R L S A Q L p.180
. . . . . . g.8142
ACACACGCCTCCTCCCTGGGTTACAATGGCGCCATCCTGCAGGCCCTGGCTGTGCACCTG c.600
T H A S S L G Y N G A I L Q A L A V H L p.200
. . . . . . g.8202
GCCTTGCAGGGCGAGTCTTCCAGCGAGCACTTTCTCAAGCAACTCCTGGGCCACATGGAG c.660
A L Q G E S S S E H F L K Q L L G H M E p.220
. . . . | 05 . . g.8589
GATCTGGAGGGTGATGCCCAGTCCGTCTTGGATGCCAGGGA | GTTGGGCATGGAGGAGCGT c.720
D L E G D A Q S V L D A R E | L G M E E R p.240
. . . . . . g.8649
CCATACTCCAGCCGCCTGAAGAAGATTGGAGAGCTTCTAGACCAGGCATCGGTGACCAGG c.780
P Y S S R L K K I G E L L D Q A S V T R p.260
. . | 06 . . . . g.9283
GAGGAAGTGGTGTCTGAGCTAG | GGAATGGCATTGCTGCCTTTGAGTCGGTACCCACCGCC c.840
E E V V S E L G | N G I A A F E S V P T A p.280
. . . . . . g.9343
ATCTACTGCTTCCTACGCTGCATGGAGCCAGACCCTGAGATCCCTTCTGCCTTCAATAGC c.900
I Y C F L R C M E P D P E I P S A F N S p.300
. . . . . . g.9403
CTCCAAAGGACTCTCATTTATTCCATCTCACTTGGTGGGGACACAGACACCATTGCCACC c.960
L Q R T L I Y S I S L G G D T D T I A T p.320
. . . . . . g.9463
ATGGCTGGGGCCATTGCTGGTGCCTACTATGGGATGGATCAGGTGCCAGAGAGCTGGCAG c.1020
M A G A I A G A Y Y G M D Q V P E S W Q p.340
. . . . . . g.9523
CAAAGCTGTGAAGGCTACGAGGAGACAGACATCCTGGCCCAAAGCCTGCACCGTGTCTTC c.1080
Q S C E G Y E E T D I L A Q S L H R V F p.360
. g.9535
CAGAAGAGTTGA c.1092
Q K S X p.363
. . . . . . g.9595
tgagggctacagctgttggggctctgccaggtcccctgggaccaactacagctccaatca c.*60
. . . . . . g.9655
gaaaccctgcgcttccttgagtgtggcttcccacttttcctgcattgtggagctgactga c.*120
. . . . . . g.9715
gtacaccggtgaggctggggtctctgcaggggaggtcactggaacagcgagcaagggact c.*180
. . . . . . g.9775
ggtgcctcgctggtgctgggtctctggtttgctgcagagccgtaggacactcctggctcc c.*240
. . . . . . g.9835
tcagtaggacagacagacgcaggcgggtttattttggaggggtacttgtggcattttcct c.*300
. . . . . . g.9895
gtattgtcttggacatgggatgtggggaggtggaaatgatgagcagtagcatcatttctc c.*360
. . . . . . g.9955
cctgttgggttttagccagtttgccagcaagcgcatcctagcagggtccccgagcagcag c.*420
. . . . . . g.10015
gttgtgtggatgaagggacaggcacttgcatccagctgatctaggtcacacctggctctt c.*480
. . . . . . g.10075
ggctgccatgtggcttattaacagcttccagtggaagtcgcaataaacagtttttggtaa c.*540
g.10081
atctca c.*546
(downstream sequence)
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