(used for variant description)
(last modified November 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000302.3 in the PLOD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008159.1, covering PLOD1 transcript NM_000302.3.
(upstream sequence)
. . . . . g.5053
gtgccgcccccggggcgggcccagtgcgtggcagcgggacctgcggccccgtc c.-61
. . . . . . g.5113
gcgaagtttccagccctgcgagcgccgccgggtcggccgatcgtcccccatacctcggcc c.-1
. . . . . . g.5173
ATGCGGCCCCTGCTGCTACTGGCCCTGCTGGGCTGGCTGCTGCTGGCCGAAGCGAAGGGC c.60
M R P L L L L A L L G W L L L A E A K G p.20
. | 02 . . . . . g.18353
GACGCCAAGCCGGAGG | ACAACCTTTTAGTCCTCACGGTGGCCACTAAGGAGACCGAGGGA c.120
D A K P E D | N L L V L T V A T K E T E G p.40
. . . . | 03 . g.20118
TTCCGTCGCTTCAAGCGCTCAGCTCAGTTCTTCAACTACAAGATCCAG | GCGCTTGGCCTA c.180
F R R F K R S A Q F F N Y K I Q | A L G L p.60
. . . . . . g.20178
GGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTG c.240
G E D W N V E K G T S A G G G Q K V R L p.80
. . . . . . g.20238
CTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGAC c.300
L K K A L E K H A D K E D L V I L F A D p.100
| 04 . . . . . . g.20748
AG | CTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCC c.360
S | Y D V L F A S G P R E L L K K F R Q A p.120
. . . . . . g.20808
AGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGACCGCAGGCTGGAGACC c.420
R S Q V V F S A E E L I Y P D R R L E T p.140
. . . . | 05 . . g.22970
AAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAG | GCTTCATCGGTTAT c.480
K Y P V V S D G K R F L G S G G | F I G Y p.160
. . . . . . g.23030
GCCCCCAACCTCAGCAAACTGGTGGCCGAGTGGGAGGGCCAGGACAGCGACAGCGATCAG c.540
A P N L S K L V A E W E G Q D S D S D Q p.180
. . . | 06 . . g.25184
CTGTTTTACACCAAGATCTTCTTGGACCCGGAGAAGAGG | GAGCAGATCAATATCACCCTG c.600
L F Y T K I F L D P E K R | E Q I N I T L p.200
. . . . | 07 . . g.27267
GACCACCGCTGCCGTATCTTCCAGAACCTGGATGGAGCCTTGG | ATGAGGTCGTGCTCAAG c.660
D H R C R I F Q N L D G A L D | E V V L K p.220
. . . . . . g.27327
TTTGAAATGGGCCATGTGAGAGCGAGGAACCTGGCCTATGACACCCTCCCGGTCCTGATC c.720
F E M G H V R A R N L A Y D T L P V L I p.240
. . | 08 . . . . g.28214
CATGGCAACGGGCCAACCAAG | CTGCAGTTGAACTACCTGGGCAACTACATCCCGCGCTTC c.780
H G N G P T K | L Q L N Y L G N Y I P R F p.260
. . . . . . g.28274
TGGACCTTCGAAACAGGCTGCACCGTGTGTGACGAAGGCTTGCGCAGCCTCAAGGGCATT c.840
W T F E T G C T V C D E G L R S L K G I p.280
| 09 . . . . . . g.28906
GGG | GATGAAGCTCTGCCCACGGTCCTGGTCGGCGTGTTCATCGAACAGCCCACGCCGTTT c.900
G | D E A L P T V L V G V F I E Q P T P F p.300
. . . . . . g.28966
GTGTCCCTGTTCTTCCAGCGGCTCCTGCGGCTCCACTACCCCCAGAAACACATGCGACTT c.960
V S L F F Q R L L R L H Y P Q K H M R L p.320
. | 10 . . . . . g.31024
TTCATCCACAACCAC | GAGCAGCACCACAAGGCTCAGGTGGAAGAGTTCCTGGCACAGCAT c.1020
F I H N H | E Q H H K A Q V E E F L A Q H p.340
. . . . . . g.31084
GGCAGCGAGTACCAGTCTGTGAAGCTGGTGGGCCCTGAGGTGCGGATGGCGAATGCAGAT c.1080
G S E Y Q S V K L V G P E V R M A N A D p.360
. | 11. . . . . g.33908
GCCAGGAACATGGGCGC | AGACCTGTGCCGGCAGGACCGCAGCTGCACCTACTACTTCAGC c.1140
A R N M G A | D L C R Q D R S C T Y Y F S p.380
. . . . . . g.33968
GTGGATGCTGACGTGGCCCTGACCGAGCCCAACAGCCTGCGGCTGCTGATCCAACAGAAC c.1200
V D A D V A L T E P N S L R L L I Q Q N p.400
| 12 . . . . . . g.34566
AA | GAACGTCATTGCCCCGCTGATGACCCGGCATGGGAGGCTGTGGTCGAACTTCTGGGGG c.1260
K | N V I A P L M T R H G R L W S N F W G p.420
. . . . . . g.34626
GCTCTCAGTGCAGATGGCTACTATGCCCGTTCCGAGGACTACGTGGACATTGTGCAGGGG c.1320
A L S A D G Y Y A R S E D Y V D I V Q G p.440
| 13 . . . . . g.35029
CGGCGTGT | TGGTGTCTGGAATGTGCCCTATATTTCAAACATCTACTTGATCAAGGGCAGT c.1380
R R V | G V W N V P Y I S N I Y L I K G S p.460
. . . . . . g.35089
GCCCTGCGGGGTGAGCTGCAGTCCTCAGATCTCTTCCACCACAGCAAGCTGGACCCCGAC c.1440
A L R G E L Q S S D L F H H S K L D P D p.480
. . . | 14 . . . g.35843
ATGGCCTTCTGTGCCAACATCCGGCAGCAG | GATGTGTTCATGTTCCTGACCAACCGGCAC c.1500
M A F C A N I R Q Q | D V F M F L T N R H p.500
. . . . . . g.35903
ACCCTTGGCCATCTGCTCTCCCTAGACAGCTACCGCACCACCCACCTGCACAACGACCTC c.1560
T L G H L L S L D S Y R T T H L H N D L p.520
. . | 15 . . . . g.36620
TGGGAGGTGTTCAGCAACCCCGAG | GACTGGAAGGAGAAGTACATCCACCAGAACTACACC c.1620
W E V F S N P E | D W K E K Y I H Q N Y T p.540
. . . | 16 . . . g.37350
AAAGCCCTGGCAGGGAAGCTGGTGGAGACG | CCCTGCCCGGATGTCTATTGGTTCCCCATC c.1680
K A L A G K L V E T | P C P D V Y W F P I p.560
. . . . . . g.37410
TTCACGGAGGTGGCCTGTGATGAGCTGGTGGAGGAGATGGAGCACTTTGGCCAGTGGTCT c.1740
F T E V A C D E L V E E M E H F G Q W S p.580
. | 17 . . . . . g.41048
CTGGGCAACAACAAG | GACAACCGCATCCAGGGTGGCTACGAGAACGTGCCGACTATTGAC c.1800
L G N N K | D N R I Q G G Y E N V P T I D p.600
. . . . . . g.41108
ATCCACATGAACCAGATCGGCTTTGAGCGGGAGTGGCACAAATTCCTGCTGGAGTACATT c.1860
I H M N Q I G F E R E W H K F L L E Y I p.620
. . . . | 18 . . g.43223
GCGCCCATGACGGAGAAGCTCTACCCCGGCTACTACACCAGG | GCCCAGTTTGACCTGGCC c.1920
A P M T E K L Y P G Y Y T R | A Q F D L A p.640
. . . . . . g.43283
TTTGTCGTCCGCTACAAGCCTGATGAGCAGCCCTCACTGATGCCACACCATGATGCCTCC c.1980
F V V R Y K P D E Q P S L M P H H D A S p.660
. . . . | 19 . g.44998
ACCTTCACCATCAACATCGCCCTGAACCGAGTCGGGGTGGATTACGAG | GGCGGGGGCTGT c.2040
T F T I N I A L N R V G V D Y E | G G G C p.680
. . . . . . g.45058
CGGTTCCTGCGCTACAACTGTTCCATCCGAGCCCCAAGGAAGGGCTGGACCCTCATGCAC c.2100
R F L R Y N C S I R A P R K G W T L M H p.700
. . . . . . g.45118
CCTGGACGACTCACGCATTACCATGAGGGGCTCCCCACCACCAGGGGCACCCGCTACATC c.2160
P G R L T H Y H E G L P T T R G T R Y I p.720
. . g.45142
GCAGTCTCCTTCGTCGATCCCTAA c.2184
A V S F V D P X p.727
. . . . . . g.45202
ttggccaggcctgaccctcttggacctttcttctttgccgacaaccactgcccagcagcc c.*60
. . . . . . g.45262
tctgggacctcggggtcccagggaacccagtccagcctcctggctgttgacttcccattg c.*120
. . . . . . g.45322
ctcttggagccaccaatcaaagagattcaaagagattcctgcaggccagaggcggaacac c.*180
. . . . . . g.45382
acctttatggctggggctctccgtggtgttctggacccagcccctggagacaccattcac c.*240
. . . . . . g.45442
ttttactgctttgtagtgactcgtgctctccaacctgtcttcctgaaaaaccaaggcccc c.*300
. . . . . . g.45502
cttcccccacctcttccatggggtgagacttgagcagaacaggggcttccccaagttgcc c.*360
. . . . . . g.45562
cagaaagactgtctgggtgagaagccatggccagagcttctcccaggcacaggtgttgca c.*420
. . . . . . g.45622
ccagggacttctgcttcaagttttggggtaaagacacctggatcagactccaagggctgc c.*480
. . . . . . g.45682
cctgagtctgggacttctgcctccatggctggtcatgagagcaaaccgtagtcccctgga c.*540
. . . . . . g.45742
gacagcgactccagagaacctcttgggagacagaagaggcatctgtgcacagctcgatct c.*600
. . . . . . g.45802
tctacttgcctgtggggaggggagtgacaggtccacacaccacactgggtcaccctgtcc c.*660
. . . . . . g.45862
tggatgcctctgaagagagggacagaccgtcagaaactggagagtttctattaaaggtca c.*720
. g.45876
tttaaaccactgaa c.*734
(downstream sequence)
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