(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001382.3 in the DPAGT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008918.1, covering DPAGT1 transcript NM_001382.3.
(upstream sequence)
. . . . . . g.5060
aagtatccgttcttggctgcctttctttaattgcgtttccagtactctctcggtgattct c.-361
. . . . . . g.5120
actcttgaacataggatgaaatttggaatcacacttctcttccacttccatccccaccct c.-301
. . . . . . g.5180
ctaatgcccatattaaaaatggcggccgccgccttccgcagtaatggttgttcagcgaac c.-241
. . . . . . g.5240
aagatccgggcggaaacagtagataggcgggtgcagcggggcagaacataggttgcctta c.-181
. . . . . . g.5300
gagaggttccccggtgtcccgacggcggctcaagtcagagttgctgggttttgctcagat c.-121
. . . . . . g.5360
tggtgtgggaagagcctgcctgtggggagcggccactccatactgctgaggcctcaggac c.-61
. . . . . . g.5420
tgctgctcagcttgcccgttacctgaagaggcggcggagccgggcccctgaccggtcacc c.-1
. . . . . . g.5480
ATGTGGGCCTTCTCGGAATTGCCCATGCCGCTGCTGATCAATTTGATCGTCTCGCTGCTG c.60
M W A F S E L P M P L L I N L I V S L L p.20
. . . . . . g.5540
GGATTTGTGGCCACAGTCACCCTCATCCCGGCCTTCCGGGGCCACTTCATTGCTGCGCGC c.120
G F V A T V T L I P A F R G H F I A A R p.40
. . . . | 02 . . g.5956
CTCTGTGGTCAGGACCTCAACAAAACCAGCCGACAGCAGAT | CCCAGAATCCCAGGGAGTG c.180
L C G Q D L N K T S R Q Q I | P E S Q G V p.60
. . . . . . g.6016
ATCAGCGGTGCTGTTTTCCTTATCATCCTCTTCTGCTTCATCCCTTTCCCCTTCCTGAAC c.240
I S G A V F L I I L F C F I P F P F L N p.80
. . . . | 03 . . g.6250
TGCTTTGTGAAGGAGCAGTGTAAGGCATTCCCCCACCATGAA | TTTGTGGCCCTGATAGGT c.300
C F V K E Q C K A F P H H E | F V A L I G p.100
. . . . . . g.6310
GCCCTCCTTGCCATCTGCTGCATGATCTTCCTGGGCTTTGCGGATGATGTACTGAATCTG c.360
A L L A I C C M I F L G F A D D V L N L p.120
. . . . . . g.6370
CGCTGGCGCCATAAGCTGCTGCTACCTACAGCTGCCTCACTACCTCTCCTCATGGTCTAT c.420
R W R H K L L L P T A A S L P L L M V Y p.140
. . . . . . g.6430
TTCACCAACTTTGGCAACACGACCATTGTGGTGCCCAAGCCCTTCCGCCCGATACTTGGC c.480
F T N F G N T T I V V P K P F R P I L G p.160
. | 04 . . . . . g.6711
CTGCATCTGGACTTGG | GAATCCTGTACTATGTCTACATGGGGCTGCTGGCAGTGTTCTGT c.540
L H L D L G | I L Y Y V Y M G L L A V F C p.180
. . . . . . g.6771
ACCAATGCCATCAATATCCTAGCAGGAATTAACGGCCTAGAGGCTGGCCAGTCACTAGTC c.600
T N A I N I L A G I N G L E A G Q S L V p.200
. . . . | 05 . . g.8605
ATTTCTGCTTCCATCATTGTCTTCAACCTGGTAGAGTTGGAAG | GTGATTGTCGGGATGAT c.660
I S A S I I V F N L V E L E G | D C R D D p.220
. . . . . . g.8665
CATGTCTTTTCCCTCTACTTCATGATACCCTTTTTTTTCACCACTTTGGGATTGCTCTAC c.720
H V F S L Y F M I P F F F T T L G L L Y p.240
| 06 . . . . . g.9084
CACAACTG | GTACCCATCACGGGTGTTTGTGGGAGATACCTTCTGTTACTTTGCTGGCATG c.780
H N W | Y P S R V F V G D T F C Y F A G M p.260
. . . . . . g.9144
ACCTTTGCCGTGGTGGGCATCTTGGGACACTTCAGCAAGACCATGCTACTATTCTTCATG c.840
T F A V V G I L G H F S K T M L L F F M p.280
. . . . . . g.9204
CCCCAGGTGTTCAACTTCCTCTACTCACTGCCTCAGCTCCTGCATATCATCCCCTGCCCT c.900
P Q V F N F L Y S L P Q L L H I I P C P p.300
. | 07. . . . . g.9567
CGCCACCGCATACCCAG | ACTCAATATCAAGACAGGCAAACTGGAGATGAGCTATTCCAAG c.960
R H R I P R | L N I K T G K L E M S Y S K p.320
. . . . | 08 . . g.9793
TTCAAGACCAAGAGCCTCTCTTTCTTGGGCACCTTTATTTTAAAG | GTGGCAGAGAGCCTC c.1020
F K T K S L S F L G T F I L K | V A E S L p.340
. . . . . . g.9853
CAGCTGGTGACAGTACACCAGAGTGAGACTGAAGATGGTGAATTCACTGAATGTAACAAC c.1080
Q L V T V H Q S E T E D G E F T E C N N p.360
. . . . . . g.9913
ATGACCCTCATCAACTTGCTACTTAAAGTCCTTGGGCCCATACATGAGAGAAACCTCACA c.1140
M T L I N L L L K V L G P I H E R N L T p.380
. . | 09 . . . . g.10051
TTGCTCCTGCTGCTGCTGCAG | ATCCTGGGCAGTGCCATCACCTTCTCCATTCGATATCAG c.1200
L L L L L L Q | I L G S A I T F S I R Y Q p.400
. . g.10078
CTCGTTCGACTCTTCTATGATGTCTGA c.1227
L V R L F Y D V X p.408
. . . . . . g.10138
gtcccttgatcattgtcctttacctcacagtctctaggattcctgactcaggctgacctc c.*60
. . . . . . g.10198
tctctctggtcccagactgcctccttgcccaggcctctctcactcttcatactcctccag c.*120
. . . . . . g.10258
attttgttctcagcattttcctttctctgtgatcattggcatcctgggcgtttcttgccc c.*180
. . . . . . g.10318
tctgctgactactgattggattttacctatggctttctgcaacttgctactctctccctc c.*240
. . . . . . g.10378
tccatcccatctttgcagcctcatagggtgggatacagcagctttttttgcagttatcca c.*300
. . . . . . g.10438
cactcacatttcagagtcctgactctcaaggaaccactggtttttgggatagaacttggg c.*360
. . . . . . g.10498
ccagggctaggaacacaggctccacggtgacatgtcatttgattgtaaattaagtgttct c.*420
. . . . . . g.10558
gattagtaagaactaagcagggggccacatgctctcaatggagacaataaagtgttgtct c.*480
. g.10573
ttttcttattgttta c.*495
(downstream sequence)
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