(used for variant description)
(last modified November 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_152783.3 in the D2HGDH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012012.1, covering D2HGDH transcript NM_152783.3.
(upstream sequence)
. . . . . g.5053
ggcgtcgccccgcccactccggctcggcggctctgggcctgcggcgggcgctg c.-121
. . . | 02. . . g.5550
cgggttggagctcgggacgtgatcgtgg | gcgcgcagccagcggctccctgcccttcccct c.-61
. . . . . . g.5610
ccgggccctgagtaccggccccccaccaaggaggagcccgaggtctccgtcccggcggcg c.-1
. . . . . . g.5670
ATGCTGCCCCGTCGGCCTCTGGCGTGGCCCGCGTGGCTGTTGCGGGGTGCTCCGGGAGCC c.60
M L P R R P L A W P A W L L R G A P G A p.20
. . . . . . g.5730
GCGGGTTCTTGGGGTCGGCCGGTTGGCCCCCTGGCCCGCAGAGGCTGCTGCTCCGCCCCG c.120
A G S W G R P V G P L A R R G C C S A P p.40
. . . . . . g.5790
GGGACCCCCGAGGTGCCGCTGACCCGGGAGCGCTACCCCGTGCGGCGCTTGCCGTTCTCC c.180
G T P E V P L T R E R Y P V R R L P F S p.60
. . . . . . g.5850
ACGGTGTCTAAGCAGGACCTGGCCGCCTTTGAGCGCATCGTGCCCGGCGGGGTCGTCACG c.240
T V S K Q D L A A F E R I V P G G V V T p.80
. . . . . | 03 . g.11426
GACCCGGAAGCGCTGCAGGCTCCCAACGTGGACTGGTTGCGGACGCTGCGAG | GCTGTAGC c.300
D P E A L Q A P N V D W L R T L R G | C S p.100
. . . . . | 04 . g.12830
AAGGTGCTGCTGAGGCCACGGACGTCGGAGGAGGTGTCCCACATCCTCAG | GCACTGCCAC c.360
K V L L R P R T S E E V S H I L R | H C H p.120
. . . . . . g.12890
GAGAGGAACCTGGCCGTGAACCCACAGGGGGGCAACACAGGCATGGTGGGTGGCAGCGTC c.420
E R N L A V N P Q G G N T G M V G G S V p.140
. . . . . . g.12950
CCCGTCTTTGACGAGATCATCCTCTCCACTGCCCGCATGAACCGGGTCCTCAGCTTCCAC c.480
P V F D E I I L S T A R M N R V L S F H p.160
. | 05 . . . . . g.14057
AGCGTGTCTG | GAATTCTGGTTTGCCAGGCGGGCTGCGTCCTGGAGGAGCTGAGCCGGTAT c.540
S V S G | I L V C Q A G C V L E E L S R Y p.180
. . . . . . g.14117
GTGGAGGAACGGGACTTCATCATGCCGCTGGACTTAGGAGCCAAGGGCAGCTGCCACATC c.600
V E E R D F I M P L D L G A K G S C H I p.200
. . . . . . g.14177
GGGGGAAACGTGGCAACCAACGCTGGAGGCCTGCGGTTTCTTCGATATGGCTCACTGCAT c.660
G G N V A T N A G G L R F L R Y G S L H p.220
. . | 06 . . . . g.15130
GGGACTGTCCTGGGCCTGGAAGTG | GTGCTGGCCGACGGCACTGTCCTGGACTGCCTGACC c.720
G T V L G L E V | V L A D G T V L D C L T p.240
. . . . . . g.15190
TCCCTGAGGAAGGACAACACGGGCTATGACCTGAAGCAGCTGTTCATCGGGTCGGAGGGC c.780
S L R K D N T G Y D L K Q L F I G S E G p.260
. . . . . . g.15250
ACTTTGGGGATCATCACCACGGTGTCCATCTTGTGTCCACCCAAGCCCAGGGCTGTGAAC c.840
T L G I I T T V S I L C P P K P R A V N p.280
. | 07 . . . . . g.20583
GTGGCTTTCCTCG | GCTGCCCAGGCTTTGCTGAGGTTCTGCAGACCTTCAGCACCTGCAAG c.900
V A F L G | C P G F A E V L Q T F S T C K p.300
. . . . . . g.20643
GGGATGCTGGGTGAGATCCTGTCTGCATTCGAGTTCATGGATGCTGTGTGCATGCAGCTG c.960
G M L G E I L S A F E F M D A V C M Q L p.320
. . . | 08. . . g.21654
GTCGGGCGCCATCTCCACCTGGCCAGCCCGGTGCAAG | AGAGTCCGTTTTACGTCCTCATC c.1020
V G R H L H L A S P V Q E | S P F Y V L I p.340
. . . . . . g.21714
GAGACTTCAGGCTCCAACGCAGGCCATGACGCTGAGAAGCTGGGCCACTTCCTGGAGCAC c.1080
E T S G S N A G H D A E K L G H F L E H p.360
. . . . . . g.21774
GCGCTGGGCTCCGGCCTGGTGACCGATGGGACCATGGCCACCGACCAGAGGAAAGTCAAG c.1140
A L G S G L V T D G T M A T D Q R K V K p.380
| 09 . . . . . . g.26294
| ATGCTGTGGGCCCTGAGGGAAAGGATCACAGAGGCGCTGAGCCGGGATGGCTACGTGTAC c.1200
| M L W A L R E R I T E A L S R D G Y V Y p.400
. . . . . . g.26354
AAGTACGACCTCTCCCTCCCTGTGGAGCGGCTCTACGACATCGTGACTGACCTGCGCGCC c.1260
K Y D L S L P V E R L Y D I V T D L R A p.420
. . . . | 10 . . g.38109
CGCCTCGGCCCGCACGCCAAGCACGTGGTGGGCTATGGCCACCTTG | GAGATGGTAACCTG c.1320
R L G P H A K H V V G Y G H L G | D G N L p.440
. . . . . . g.38169
CACCTCAATGTGACGGCGGAGGCCTTCAGCCCCTCGCTCCTGGCTGCCCTGGAGCCCCAC c.1380
H L N V T A E A F S P S L L A A L E P H p.460
. . . . . . g.38229
GTGTACGAGTGGACGGCCGGGCAGCAGGGCAGCGTCAGCGCGGAGCACGGAGTGGGCTTC c.1440
V Y E W T A G Q Q G S V S A E H G V G F p.480
. . . . . . g.38289
AGGAAGAGGGACGTCCTGGGCTACAGCAAGCCACCGGGGGCCCTGCAGCTCATGCAGCAG c.1500
R K R D V L G Y S K P P G A L Q L M Q Q p.500
. . . . . . g.38349
CTCAAGGCCCTGCTGGACCCCAAGGGCATCCTCAACCCCTACAAGACGCTGCCCAGCCAG c.1560
L K A L L D P K G I L N P Y K T L P S Q p.520
g.38355
GCCTGA c.1566
A X p.521
. . . . . . g.38415
cggccactcctgctgctgccaaggcccactgggggtcggcgggtggctctcgggcggggg c.*60
. . . . . . g.38475
tgttgcggtggctctgagggatgagccggcagtgggcaggggaccaggcacctggttgaa c.*120
. . . . . . g.38535
gggactgggagcccgcactggggaactgccggacgcaggccctcgggcaggagcatctgg c.*180
. . . . . . g.38595
cagagtggggggcgtggcaggcaccctcctttgcagggcgaggtggggcctctgcagcca c.*240
. . . . . . g.38655
tcctggacaggccggggtggcggcagctttgcccacgtggaagcggggtgggtctcactt c.*300
. . . . . . g.38715
gcgtggtggcccctggccccatcttgcctgctgcggcctggggagcaggcgctgggtggt c.*360
. . . . . . g.38775
ggttctgcctgcttgctgctcgttccccgggcatgcgtgggcagcggggggcatgcgtgg c.*420
. . . . . . g.38835
gcagcagggggcgtgggcagcgggggcacgggcaggaccacgtgggccgtgatcgtgggt c.*480
. . . . . . g.38895
tgccgagaggacctgagcgctgcggctctgctgaatggagccgggtccctcaggccgtgg c.*540
. . . . . . g.38955
acgccctcgggaggggggtgactgtggcttgtgtctggacaggaatgtgtcatttcccac c.*600
. . . . . . g.39015
atcttctagagggctgccagctgggaagacagttatcagggcaagctgtgctctgagttt c.*660
. . . . . . g.39075
cgggttctgctcctacaaagaacgtgcggtgctgcgggcgagggccccggcacggacaag c.*720
. . . . . . g.39135
ggccactgcagagtgtgtttctgctcgtcagctgccctgggcagcggatgggctgggcga c.*780
. . . . . . g.39195
tgcagctggatgcacatctcattctgtcatgaatgtccagtaaaaatctgaattggttgc c.*840
g.39202
aaccttc c.*847
(downstream sequence)
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