(used for variant description)
(last modified May 20, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001084.4 in the PLOD3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012148.1, covering PLOD3 transcript NM_001084.4.
(upstream sequence)
. . . g.5036
taggcttcctccctccctgtcgccgccagcctctcg c.-421
. . . . . . g.5096
ctctccccgtcttccgcccgcactctctgggcagggctgcggccaggacccgcccccgcg c.-361
. . . . . . g.5156
tcccgcccgaccctccgccaggggtcacttcccctgtccaggtttcagcttccacatgtg c.-301
. . . . . . g.5216
tcaagcggctggctcagcccagagtccctgtctcccgcccgccggcccgagccgccgccc c.-241
. . . . . . g.5276
ctcccccgcctcccgtgcgcccgggacaatcctcgccttgtctgtggcgccggcatctgg c.-181
. . . . . . g.5336
agctttctgtagcctccggatacgcctttttttcagggcgtagccccagccaagctgctc c.-121
. . . . . . g.5396
cccgcggcggccgcacagcagcccgagcgccccctttccagagctcccctccggagctgg c.-61
. . . . . . g.5456
gatccaggcgcgtagcggagatcccaggatcctgggtgctgtctgggcccgctccccacc c.-1
. . . . . . g.5516
ATGACCTCCTCGGGGCCTGGACCCCGGTTCCTGCTGCTGCTGCCGCTGCTGCTGCCCCCT c.60
M T S S G P G P R F L L L L P L L L P P p.20
. . . . | 02 . g.5955
GCGGCCTCAGCCTCCGACCGGCCCCGGGGCCGAGACCCGGTCAACCCAG | AGAAGCTGCTG c.120
A A S A S D R P R G R D P V N P E | K L L p.40
. . . . . . g.6015
GTGATCACTGTGGCCACAGCTGAAACCGAGGGGTACCTGCGTTTCCTGCGCTCTGCGGAG c.180
V I T V A T A E T E G Y L R F L R S A E p.60
. . | 03 . . . . g.6223
TTCTTCAACTACACTGTGCGG | ACCCTGGGCCTGGGAGAGGAGTGGCGAGGGGGTGATGTG c.240
F F N Y T V R | T L G L G E E W R G G D V p.80
. . . . . . g.6283
GCTCGAACAGTTGGTGGAGGACAGAAGGTCCGGTGGTTAAAGAAGGAAATGGAGAAATAC c.300
A R T V G G G Q K V R W L K K E M E K Y p.100
. . . | 04 . . g.6426
GCTGACCGGGAGGATATGATCATCATGTTTGTGGATAG | CTACGACGTGATTCTGGCCGGC c.360
A D R E D M I I M F V D S | Y D V I L A G p.120
. . . . . . g.6486
AGCCCCACAGAGCTGCTGAAGAAGTTCGTCCAGAGTGGCAGCCGCCTGCTCTTCTCTGCA c.420
S P T E L L K K F V Q S G S R L L F S A p.140
. . . . . . g.6546
GAGAGCTTCTGCTGGCCCGAGTGGGGGCTGGCGGAGCAGTACCCTGAGGTGGGCACGGGG c.480
E S F C W P E W G L A E Q Y P E V G T G p.160
. . | 05 . . . . g.6748
AAGCGCTTCCTCAATTCTGGTG | GATTCATCGGTTTTGCCACCACCATCCACCAAATCGTG c.540
K R F L N S G G | F I G F A T T I H Q I V p.180
. . . . . . g.6808
CGCCAGTGGAAGTACAAGGATGATGACGACGACCAGCTGTTCTACACACGGCTCTACCTG c.600
R Q W K Y K D D D D D Q L F Y T R L Y L p.200
. | 06 . . . . . g.7623
GACCCAGGACTGAGG | GAGAAACTCAGCCTTAATCTGGATCATAAGTCTCGGATCTTTCAG c.660
D P G L R | E K L S L N L D H K S R I F Q p.220
. | 07 . . . . g.9567
AACCTCAACGGGGCTTTAG | ATGAAGTGGTTTTAAAGTTTGATCGGAACCGTGTGCGTATC c.720
N L N G A L D | E V V L K F D R N R V R I p.240
. . . . . | 08. g.9790
CGGAACGTGGCCTACGACACGCTCCCCATTGTGGTCCATGGAAACGGTCCCACTAAG | CTG c.780
R N V A Y D T L P I V V H G N G P T K | L p.260
. . . . . . g.9850
CAGCTCAACTACCTGGGAAACTACGTCCCCAATGGCTGGACTCCTGAGGGAGGCTGTGGC c.840
Q L N Y L G N Y V P N G W T P E G G C G p.280
. . . | 09 . . g.10096
TTCTGCAACCAGGACCGGAGGACACTCCCGGGGGGGCAG | CCTCCCCCCCGGGTGTTTCTG c.900
F C N Q D R R T L P G G Q | P P P R V F L p.300
. . . . . . g.10156
GCCGTGTTTGTGGAACAGCCTACTCCGTTTCTGCCCCGCTTCCTGCAGCGGCTGCTACTC c.960
A V F V E Q P T P F L P R F L Q R L L L p.320
. . . . | 10 . . g.10371
CTGGACTATCCCCCCGACAGGGTCACCCTTTTCCTGCACAACAAC | GAGGTCTTCCATGAA c.1020
L D Y P P D R V T L F L H N N | E V F H E p.340
. . . . . . g.10431
CCCCACATCGCTGACTCCTGGCCGCAGCTCCAGGACCACTTCTCAGCTGTGAAGCTCGTG c.1080
P H I A D S W P Q L Q D H F S A V K L V p.360
. . . . | 11. . g.10793
GGGCCGGAGGAGGCTCTGAGCCCAGGCGAGGCCAGGGACATGGCCAT | GGACCTGTGTCGG c.1140
G P E E A L S P G E A R D M A M | D L C R p.380
. . . . . . g.10853
CAGGACCCCGAGTGTGAGTTCTACTTCAGCCTGGACGCCGACGCTGTCCTCACCAACCTG c.1200
Q D P E C E F Y F S L D A D A V L T N L p.400
. . . | 12 . . . g.11042
CAGACCCTGCGTATCCTCATTGAGGAGAACAG | GAAGGTGATCGCCCCCATGCTGTCCCGC c.1260
Q T L R I L I E E N R | K V I A P M L S R p.420
. . . . . . g.11102
CACGGCAAGCTGTGGTCCAACTTCTGGGGCGCCCTGAGCCCCGATGAGTACTACGCCCGC c.1320
H G K L W S N F W G A L S P D E Y Y A R p.440
. . . | 13 . . g.12079
TCCGAGGACTACGTGGAGCTGGTGCAGCGGAAGCGAGT | GGGTGTGTGGAATGTACCATAC c.1380
S E D Y V E L V Q R K R V | G V W N V P Y p.460
. . . . . . g.12139
ATCTCCCAGGCCTATGTGATCCGGGGTGATACCCTGCGGATGGAGCTGCCCCAGAGGGAT c.1440
I S Q A Y V I R G D T L R M E L P Q R D p.480
. . . . . . g.12199
GTGTTCTCGGGCAGTGACACAGACCCGGACATGGCCTTCTGTAAGAGCTTTCGAGACAAG c.1500
V F S G S D T D P D M A F C K S F R D K p.500
| 14 . . . . . . g.12346
| GGCATCTTCCTCCATCTGAGCAATCAGCATGAATTTGGCCGGCTCCTGGCCACTTCCAGA c.1560
| G I F L H L S N Q H E F G R L L A T S R p.520
. . . . . | 15 . g.12575
TACGACACGGAGCACCTGCACCCCGACCTCTGGCAGATCTTCGACAACCCCGTC | GACTGG c.1620
Y D T E H L H P D L W Q I F D N P V | D W p.540
. . . . . . g.12635
AAGGAGCAGTACATCCACGAGAACTACAGCCGGGCCCTGGAAGGGGAAGGAATCGTGGAG c.1680
K E Q Y I H E N Y S R A L E G E G I V E p.560
| 16 . . . . . . g.13830
CAG | CCATGCCCGGACGTGTACTGGTTCCCACTGCTGTCAGAACAAATGTGTGATGAGCTG c.1740
Q | P C P D V Y W F P L L S E Q M C D E L p.580
. . . . | 17 . g.15018
GTGGCAGAGATGGAGCACTACGGCCAGTGGTCAGGCGGCCGGCATGAG | GATTCAAGGCTG c.1800
V A E M E H Y G Q W S G G R H E | D S R L p.600
. . . . . . g.15078
GCTGGAGGCTACGAGAATGTGCCCACCGTGGACATCCACATGAAGCAGGTGGGGTACGAG c.1860
A G G Y E N V P T V D I H M K Q V G Y E p.620
. . . . . . g.15138
GACCAGTGGCTGCAGCTGCTGCGGACGTATGTGGGCCCCATGACCGAGAGCCTGTTTCCC c.1920
D Q W L Q L L R T Y V G P M T E S L F P p.640
. | 18 . . . . . g.15871
GGTTACCACACCAAG | GCGCGGGCGGTGATGAACTTTGTGGTTCGCTACCGGCCAGACGAG c.1980
G Y H T K | A R A V M N F V V R Y R P D E p.660
. . . . . . g.15931
CAGCCGTCTCTGCGGCCACACCACGACTCATCCACCTTCACCCTCAACGTTGCCCTCAAC c.2040
Q P S L R P H H D S S T F T L N V A L N p.680
. . | 19 . . . . g.16333
CACAAGGGCCTGGACTATGAG | GGAGGTGGCTGCCGCTTCCTGCGCTACGACTGTGTGATC c.2100
H K G L D Y E | G G G C R F L R Y D C V I p.700
. . . . . . g.16393
TCCTCCCCGAGGAAGGGCTGGGCACTCCTGCACCCCGGCCGCCTCACCCACTACCACGAG c.2160
S S P R K G W A L L H P G R L T H Y H E p.720
. . . . . g.16450
GGGCTGCCAACGACCTGGGGCACACGCTACATCATGGTGTCCTTTGTCGACCCCTGA c.2217
G L P T T W G T R Y I M V S F V D P X p.738
. . . . . . g.16510
cactcaaccactctgccaaacctgccctgccattgtgcctttttagggggcctggccccc c.*60
. . . . . . g.16570
gtcctgggagttgggggatgggtctctctgtctccccacttcctgagttcatgttccgcg c.*120
. . . . . . g.16630
tgcctgaactgaatatgtcaccttgctcccaagacacggccctctcaggaagctcccgga c.*180
. . . . . . g.16690
gtccccgcctctctcctccgcccacaggggttcgtgggcacagggcttctggggactccc c.*240
. . . . . . g.16750
cgcgtgataaattattaatgttccgcagtctcactctgaataaaggacagtttgtaagtc c.*300
g.16754
ttga c.*304
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 23
©2004-2020 Leiden University Medical Center