(used for variant description)
(last modified September 21, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_002317.5 in the LOX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering LOX transcript NM_002317.5.
(upstream sequence)
. g.5015
attacgtgaacaaat c.-361
. . . . . . g.5075
agctgaggggcggccgggccagaacggcttgtgtaactttgcaaacgtgccagaaagttt c.-301
. . . . . . g.5135
aaaatctctcctccttccttcactccagacactgcccgctctccgggactgccgcgccgc c.-241
. . . . . . g.5195
tccccgttgccttccaggactgagaaaggggaaagggaagggtgccacgtccgagcagcc c.-181
. . . . . . g.5255
gccttgactggggaagggtctgaatcccacccttggcattgcttggtggagactgagata c.-121
. . . . . . g.5315
cccgtgctccgctcgcctccttggttgaagatttctccttccctcacgtgatttgagccc c.-61
. . . . . . g.5375
cgtttttattttctgtgagccacgtcctcctcgagcggggtcaatctggcaaaaggagtg c.-1
. . . . . . g.5435
ATGCGCTTCGCCTGGACCGTGCTCCTGCTCGGGCCTTTGCAGCTCTGCGCGCTAGTGCAC c.60
M R F A W T V L L L G P L Q L C A L V H p.20
. . . . . . g.5495
TGCGCCCCTCCCGCCGCCGGCCAACAGCAGCCCCCGCGCGAGCCGCCGGCGGCTCCGGGC c.120
C A P P A A G Q Q Q P P R E P P A A P G p.40
. . . . . . g.5555
GCCTGGCGCCAGCAGATCCAATGGGAGAACAACGGGCAGGTGTTCAGCTTGCTGAGCCTG c.180
A W R Q Q I Q W E N N G Q V F S L L S L p.60
. . . . . . g.5615
GGCTCACAGTACCAGCCTCAGCGCCGCCGGGACCCGGGCGCCGCCGTCCCTGGTGCAGCC c.240
G S Q Y Q P Q R R R D P G A A V P G A A p.80
. . . . . . g.5675
AACGCCTCCGCCCAGCAGCCCCGCACTCCGATCCTGCTGATCCGCGACAACCGCACCGCC c.300
N A S A Q Q P R T P I L L I R D N R T A p.100
. . . . . . g.5735
GCGGCGCGAACGCGGACGGCCGGCTCATCTGGAGTCACCGCTGGCCGCCCCAGGCCCACC c.360
A A R T R T A G S S G V T A G R P R P T p.120
. . . . . . g.5795
GCCCGTCACTGGTTCCAAGCTGGCTACTCGACATCTAGAGCCCGCGAAGCTGGCGCCTCG c.420
A R H W F Q A G Y S T S R A R E A G A S p.140
. . . . . . g.5855
CGCGCGGAGAACCAGACAGCGCCGGGAGAAGTTCCTGCGCTCAGTAACCTGCGGCCGCCC c.480
R A E N Q T A P G E V P A L S N L R P P p.160
. . . . . . g.5915
AGCCGCGTGGACGGCATGGTGGGCGACGACCCTTACAACCCCTACAAGTACTCTGACGAC c.540
S R V D G M V G D D P Y N P Y K Y S D D p.180
. . . . . . g.5975
AACCCTTATTACAACTACTACGATACTTATGAAAGGCCCAGACCTGGGGGCAGGTACCGG c.600
N P Y Y N Y Y D T Y E R P R P G G R Y R p.200
. . . | 02 . . . g.6388
CCCGGATACGGCACTGGCTACTTCCAGTACG | GTCTCCCAGACCTGGTGGCCGACCCCTAC c.660
P G Y G T G Y F Q Y G | L P D L V A D P Y p.220
. . . . . . g.6448
TACATCCAGGCGTCCACGTACGTGCAGAAGATGTCCATGTACAACCTGAGATGCGCGGCG c.720
Y I Q A S T Y V Q K M S M Y N L R C A A p.240
. . | 03 . . . . g.7859
GAGGAAAACTGTCTGGCCAG | TACAGCATACAGGGCAGATGTCAGAGATTATGATCACAGG c.780
E E N C L A S | T A Y R A D V R D Y D H R p.260
. . . . . . g.7919
GTGCTGCTCAGATTTCCCCAAAGAGTGAAAAACCAAGGGACATCAGATTTCTTACCCAGC c.840
V L L R F P Q R V K N Q G T S D F L P S p.280
. . . | 04 . . g.9213
CGACCAAGATATTCCTGGGAATGGCACAGTTGTCATCA | ACATTACCACAGTATGGATGAG c.900
R P R Y S W E W H S C H Q | H Y H S M D E p.300
. . . . . . g.9273
TTTAGCCACTATGACCTGCTTGATGCCAACACCCAGAGGAGAGTGGCTGAAGGCCACAAA c.960
F S H Y D L L D A N T Q R R V A E G H K p.320
. . . . . . g.9333
GCAAGTTTCTGTCTTGAAGACACATCCTGTGACTATGGCTACCACAGGCGATTTGCATGT c.1020
A S F C L E D T S C D Y G Y H R R F A C p.340
. | 05 . . . . . g.12816
ACTGCACACACACAG | GGATTGAGTCCTGGCTGTTATGATACCTATGGTGCAGACATAGAC c.1080
T A H T Q | G L S P G C Y D T Y G A D I D p.360
. . . . . | 06 . g.13201
TGCCAGTGGATTGATATTACAGATGTAAAACCTGGAAACTATATCCTAAAG | GTCAGTGTA c.1140
C Q W I D I T D V K P G N Y I L K | V S V p.380
. . . . . . g.13261
AACCCCAGCTACCTGGTTCCTGAATCTGACTATACCAACAATGTTGTGCGCTGTGACATT c.1200
N P S Y L V P E S D Y T N N V V R C D I p.400
. . . . | 07. g.16624
CGCTACACAGGACATCATGCGTATGCCTCAGGCTGCACAATTTCACC | GTATTAG c.1254
R Y T G H H A Y A S G C T I S P | Y X p.417
. . . . . . g.16684
aaggcaaagcaaaactcccaatggataaatcagtgcctggtgttctgaagtgggaaaaaa c.*60
. . . . . . g.16744
tagactaacttcagtaggatttatgtattttgaaaaagagaacagaaaacaacaaaagaa c.*120
. . . . . . g.16804
tttttgtttggactgttttcaataacaaagcacataactggattttgaacgcttaagtca c.*180
. . . . . . g.16864
tcattacttgggaaatttttaatgtttattatttacatcactttgtgaattaacacagtg c.*240
. . . . . . g.16924
tttcaattctgtaattacatatttgactctttcaaagaaatccaaatttctcatgttcct c.*300
. . . . . . g.16984
tttgaaattgtagtgcaaaatggtcagtattatctaaatgaatgagccaaaatgactttg c.*360
. . . . . . g.17044
aactgaaacttttctaaagtgctggaactttagtgaaacataataataatgggtttatat c.*420
. . . . . . g.17104
atgtcatagcatagatgaatttagaaacaatgctcctactgtttaaatacatatggacac c.*480
. . . . . . g.17164
atctggtgctgagaaagaaacaaacacattaccattggtgtcaagaaatattactatata c.*540
. . . . . . g.17224
gcagagaaatggcaatacatgtactcagatagttacatccctatataaaaagtatgttta c.*600
. . . . . . g.17284
catttaaaaaattagtagataacttcctttctttcaagtgcacaatttcattttgacttg c.*660
. . . . . . g.17344
agtcaacttttgttttggaacaaattaagtaagggagctgcccaatcctgtctgatattt c.*720
. . . . . . g.17404
cttgaggctgccctctatcattttatctttcccatgggcagagatgttgtaagtgggatt c.*780
. . . . . . g.17464
cttaatatcaccattcttgggactggtatacataaggcagccgtgaaactggaaagtcat c.*840
. . . . . . g.17524
tttgatgactgatgtgatacatccagaggtaaaatgcatttaaacatattaaagtatttg c.*900
. . . . . . g.17584
ccaaagatacaattttcttgctgacataaaaatcacacaaacaagtcccccccaaaccac c.*960
. . . . . . g.17644
aactgtctctcaaatagcttaaaaaaattgaaaaacattttaggatttttcaagttttct c.*1020
. . . . . . g.17704
agattttaaaaagatgttcagctattagaggaatgttaaaaattttatattatctagaac c.*1080
. . . . . . g.17764
acaggaacatcatcctgggttattcaggaatcagtcacacatgtgtgtgtgtctgagata c.*1140
. . . . . . g.17824
tagtctaaattagcaaagcacatagtattacatacttgaggggttggtgaacaaaggaaa c.*1200
. . . . . . g.17884
aatatactttctgcaaaaccaaggactgtgctgcgtaatgagacagctgtgatttcattt c.*1260
. . . . . . g.17944
gaaactgtgaaaccatgtgccataatagaattttgagaattttgcttttacctaaattca c.*1320
. . . . . . g.18004
agaaaatgaaattacacttttaagttagtggtgcttaagcataatttttcctatattaac c.*1380
. . . . . . g.18064
cagtattaaaatctcaagtaagattttccagtgccagaacatgttaggtggaattttaaa c.*1440
. . . . . . g.18124
agtgcctcggcatcctgtattacatgtcatagaattgtaaagtcaacatcaattactagt c.*1500
. . . . . . g.18184
aatcattctgcactcactgggtgcatagcatggttagaggggctagagatggacagtcat c.*1560
. . . . . . g.18244
caactggcggatatagcggtacatatgatccttagccaccagggcacaagcttaccagta c.*1620
. . . . . . g.18304
gacaatacagacagagcttttgttgagctgtaactgagctatggaatagcttctttgatg c.*1680
. . . . . . g.18364
tacctctttgccttaaattgctttttagttctaagattgtagaatgatcctttcaaattg c.*1740
. . . . . . g.18424
taatcttttctaacagagatattttaatatacttgctttcttaaaaaacaaaaaaactac c.*1800
. . . . . . g.18484
tgtcagtattaatactgagccagactggcatctacagatttcagatctatcattttattg c.*1860
. . . . . . g.18544
attcttaagcttgtattaaaaactaggcaatatcatcatggatacataggagaagacaca c.*1920
. . . . . . g.18604
tttacaatcattcattgggccttttatctgtctatccatccatcatcatttgaaggccta c.*1980
. . . . . . g.18664
atatatgccaagtactcacatggtatgcattgagacataaaaaagactgtctataacctc c.*2040
. . . . . . g.18724
aataagtattaaaaatcccattattacccataaggttcatcttatttcatttttagggaa c.*2100
. . . . . . g.18784
taaaattacatgtctatgaaatttcaattttaagcactattgtttttcatgaccataatt c.*2160
. . . . . . g.18844
tatttttaaaaataaattaaaggttaattatatgcatgtatgtatttctaataattaaaa c.*2220
. . . . . . g.18904
atgtgttcaatccctgaaatgtctgccttttaaatataacacctactatttggttaattt c.*2280
. . . . . . g.18964
tgacgatttttttttttcaattaggaagctaaaaatactactttattccttatatgaaca c.*2340
. . . . . . g.19024
ttcatccccctcctggcacctctaaacacacccaaataactcacaagtactgatttaaca c.*2400
. . . . . . g.19084
ctctgtattactgaacttctttgaactattttgaactttgaatctcttctctgaataact c.*2460
. . . . . . g.19144
gccgaaactcaaagataataattagttgatgaaggttatcaattaataaaataacacaga c.*2520
. . . . . . g.19204
ccagtcttaccaaactctaaatacattttaaaaaataggaactggcaatgataaaaagaa c.*2580
. . . . . . g.19264
tgttgagtactgacaggagattggcttttacactaaaaaagacagaaaatggactaaata c.*2640
. . . . . . g.19324
ggaacataatttcagagtttatgagtcagtttacaatatgccatattagcgatctcatga c.*2700
. . . . . . g.19384
tgattcagaccacagtctgggttaaagatgtcttgacctctgaggctagcataacatata c.*2760
. . . . . . g.19444
tgagaatacaacttgcctatttccagaaaatctgtatatttttatagaataactttattt c.*2820
. . . . . . g.19504
acaatttctatcatccaattactcactaggcattatttgtagtactttttttctctttga c.*2880
. . . . . . g.19564
aatctcataggatagtcacacttataaacattcccaatattcggattctagaagaaatgc c.*2940
. . . . . . g.19624
aattcattaaaattttcctggcactgagagttaatctttagcagattgcatgaaaatact c.*3000
. . . . . . g.19684
gaattcctggtaaggagatattttgttttaaaaataatgtgttttgatacgaatcagtgt c.*3060
. . . . . . g.19744
attaactgataactaaaaagtactcttttttctatatatacatatttttttgaactcata c.*3120
. . . . . . g.19804
ttcacaatcaacatattcaatcagtgagttaagtctcattcctagctaccaaaattcctg c.*3180
. . . . . . g.19864
ggccacttttaaacactaaacatttcatttatcctctaagctaaaatggtgctgagttat c.*3240
. . . . . . g.19924
ttaaatctgaatgtaaaatgcattaaatcttagcttgtggtatataaacatttaattaat c.*3300
. . . . . . g.19984
ataaaactgcttgctataaactaagtaacatgtcatttggtgttaggtttttagtgaagt c.*3360
. . . . . . g.20044
tttagcttctcccaaatttttcaggaatgttatttgtaagacgtgtaacttttttgaaga c.*3420
. . . . . . g.20104
actcttattttaaatgctcagacattggctttatgttcctctttgcattctcatattctt c.*3480
. . . . . . g.20164
ttattatacatctatactatgattgcaagattatataaaaatgccttgaataaatgattt c.*3540
g.20172
caagtgtc c.*3548
(downstream sequence)
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