(used for variant description)
(last modified December 29, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_024298.3 in the MBOAT7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033045.2, covering MBOAT7 transcript NM_024298.3.
(upstream sequence)
g.5008
taaggact c.-541
. . . . . . g.5068
cgactacctccgaagaaagccgaaacatgtggctccgcccacactggcctcagctctccg c.-481
. . . . . . g.5128
ttctcgactattgccgaagtgagccgaagtttgtggccccgcttccggagaactcaagct c.-421
. . . . . . g.5188
cccgattgtgcccgaaggaacccgaagggagaccccgcctcattcctcacggcgagctcc c.-361
. . . . . . g.5248
agaccccgcctcctttccggagcccgtctgttccccttcgggtccaaagcttttggctcc c.-301
. . . . . . g.5308
tccttgttccgagcccgaaggcccgccccttcacgtactcggagctcggatcccagtgtg c.-241
. . . . . . g.5368
gacctggactcgaatcccgttgccgactcgcgctctcggcttctgctccggggcttcttc c.-181
. . . . . . g.5428
cctgcccgcccggggccctgaccgtggcttcttccccggcctgatctgcgcagcccggcg c.-121
. . . . . . g.5488
ggcgcccagaaggagcaggcggcgcgggggcgcgctgggcgggggaggcgtggccggagc c.-61
. . . . . . | 02 g.6371
tgcggcggcaagcgggctgggactgctcggccgcctcctgcccggcgagcagctcag | acc c.-1
. . . . . . g.6431
ATGTCGCCTGAAGAATGGACGTATCTAGTGGTTCTTCTTATCTCCATCCCCATCGGCTTC c.60
M S P E E W T Y L V V L L I S I P I G F p.20
. | 03 . . . . . g.6577
CTCTTTAAGAAAGCCG | GTCCTGGGCTGAAGAGATGGGGAGCAGCCGCTGTGGGCCTGGGG c.120
L F K K A G | P G L K R W G A A A V G L G p.40
. . . . . . g.6637
CTCACCCTGTTCACCTGTGGCCCCCACACTTTGCATTCTCTGGTCACCATCCTCGGGACC c.180
L T L F T C G P H T L H S L V T I L G T p.60
. . | 04 . . . . g.7598
TGGGCCCTCATTCAGGCCCAGCCCTG | CTCCTGCCACGCCCTGGCTCTGGCCTGGACTTTC c.240
W A L I Q A Q P C | S C H A L A L A W T F p.80
. . . . . . g.7658
TCCTATCTCCTGTTCTTCCGAGCCCTCAGCCTCCTGGGCCTGCCCACTCCCACGCCCTTC c.300
S Y L L F F R A L S L L G L P T P T P F p.100
. . . | 05 . . . g.11197
ACCAATGCCGTCCAGCTGCTGCTGACGCTGAAG | CTGGTGAGCCTGGCCAGTGAAGTCCAG c.360
T N A V Q L L L T L K | L V S L A S E V Q p.120
. . . . . . g.11257
GACCTGCATCTGGCCCAGAGGAAGGAAATGGCCTCAGGCTTCAGCAAGGGGCCCACCCTG c.420
D L H L A Q R K E M A S G F S K G P T L p.140
. . . . . . g.11317
GGGCTGCTGCCCGACGTGCCCTCCCTGATGGAGACACTCAGCTACAGCTACTGCTACGTG c.480
G L L P D V P S L M E T L S Y S Y C Y V p.160
. | 06 . . . . . g.13930
GGAATCATGACAG | GCCCGTTCTTCCGCTACCGCACCTACCTGGACTGGCTGGAGCAGCCC c.540
G I M T G | P F F R Y R T Y L D W L E Q P p.180
. . . . . . g.13990
TTCCCCGGGGCAGTGCCCAGCCTGCGGCCCCTGCTGCGCCGCGCCTGGCCGGCCCCGCTC c.600
F P G A V P S L R P L L R R A W P A P L p.200
. . . . . . g.14050
TTCGGCCTGCTGTTCCTGCTCTCCTCTCACCTCTTCCCGCTGGAGGCCGTGCGCGAGGAC c.660
F G L L F L L S S H L F P L E A V R E D p.220
. . . . . . g.14110
GCCTTCTACGCCCGCCCGCTGCCCGCCCGCCTCTTCTACATGATCCCCGTCTTCTTCGCC c.720
A F Y A R P L P A R L F Y M I P V F F A p.240
. . . . . . g.14170
TTCCGCATGCGCTTCTACGTGGCCTGGATTGCCGCCGAGTGCGGCTGCATTGCCGCCGGC c.780
F R M R F Y V A W I A A E C G C I A A G p.260
. . . . . . g.14230
TTTGGGGCCTACCCCGTGGCCGCCAAAGCCCGGGCCGGAGGCGGCCCCACCCTCCAATGC c.840
F G A Y P V A A K A R A G G G P T L Q C p.280
. | 07 . . . . . g.16121
CCACCCCCCAGCAG | TCCGGAGAAGGCGGCTTCCTTGGAGTATGACTATGAGACCATCCGC c.900
P P P S S | P E K A A S L E Y D Y E T I R p.300
. . . . . . g.16181
AACATCGACTGCTACAGCACAGATTTCTGCGTGCGGGTGCGCGATGGCATGCGGTACTGG c.960
N I D C Y S T D F C V R V R D G M R Y W p.320
. . . . . . g.16241
AACATGACGGTGCAGTGGTGGCTGGCGCAGTATATCTACAAGAGCGCACCTGCCCGTTCC c.1020
N M T V Q W W L A Q Y I Y K S A P A R S p.340
. | 08 . . . . . g.20657
TATGTCCTGCG | GAGCGCCTGGACCATGCTGCTGAGCGCCTACTGGCACGGCCTCCACCCG c.1080
Y V L R | S A W T M L L S A Y W H G L H P p.360
. . . . . . g.20717
GGCTACTACCTGAGCTTCCTGACCATCCCGCTGTGCCTGGCTGCCGAGGGCCGGCTGGAG c.1140
G Y Y L S F L T I P L C L A A E G R L E p.380
. . . . . . g.20777
TCAGCCCTGCGGGGGCGGCTGAGCCCAGGGGGCCAGAAGGCCTGGGACTGGGTGCACTGG c.1200
S A L R G R L S P G G Q K A W D W V H W p.400
. . . . . . g.20837
TTCCTGAAGATGCGCGCCTATGACTACATGTGCATGGGCTTCGTGCTGCTCTCCTTGGCC c.1260
F L K M R A Y D Y M C M G F V L L S L A p.420
. . . . . . g.20897
GACACCCTTCGGTACTGGGCCTCCATCTACTTCTGTATCCACTTCCTGGCCCTGGCAGCC c.1320
D T L R Y W A S I Y F C I H F L A L A A p.440
. . . . . . g.20957
CTGGGGCTGGGGCTGGCTTTAGGTGGGGGCAGCCCCAGCCGGCGGAAGGCAGCATCCCAG c.1380
L G L G L A L G G G S P S R R K A A S Q p.460
. . . g.20996
CCCACCAGCCTTGCCCCAGAGAAGCTCCGGGAGGAGTAA c.1419
P T S L A P E K L R E E X p.472
. . . . . . g.21056
gctgtcacgacgctccctctgccagctggtcccgggaattctgtgaaccaggctgctgtc c.*60
. . . . . . g.21116
tcctccccagaaagagtccttaccttggagagggtcctggagagaatttcctcttcccca c.*120
. . . . . . g.21176
gctaaataccctgcctgcaactgaagcagacccgggggtgtcctccctgccctctgccca c.*180
. . . . . . g.21236
gaggccacctccactcctacaaaatcaaagtattgtccagacaagagtcactggcccctg c.*240
. . . . . . g.21296
ctccagcttctgggtatccagagagcactgcacttccccaaaacggaaggggcccctggg c.*300
. . . . . . g.21356
cagtgggttttgggcaaattccctttctttgcatccacaatgtggggtcggagcttgggg c.*360
. . . . . . g.21416
gcaggtcctgggagtgggaagcctcttccttgtgtctttcgctccacttttagctcatcg c.*420
. . . . . . g.21476
caccaatattgcagacttggaaggaagcataagcttcccatttcacaaaggggaaactga c.*480
. . . . . . g.21536
ggtgcgggtgcgcgggcctggggacggccgtcccatggcttccatctgagccacctcggg c.*540
. . . . . . g.21596
accccagcgctcctggcgccctcttctcatcgcttggcctatgacaggtcaccgtgtgta c.*600
. . . g.21628
aatctttcccaataaagtgttgcacaaaggca c.*632
(downstream sequence)
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