(used for variant description)
(last modified October 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000250.1 in the MPO gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009629.1, covering MPO transcript NM_000250.1.
(upstream sequence)
. . . . . g.5057
gacaatatcaggtgagctgtggaggtggggtccttggaagctggatgacagcagctg c.-121
. . . . . . g.5117
gcaaggggataagagagcagtgagcccctccctcaaggaggtctggctttatccatagac c.-61
. . . . . . g.5177
agggccctctgaggtggggctgaggtacaaagggggattgagcagcccaggagaagagag c.-1
. . . . . . g.5237
ATGGGGGTTCCCTTCTTCTCTTCTCTCAGATGCATGGTGGACTTAGGACCTTGCTGGGCT c.60
M G V P F F S S L R C M V D L G P C W A p.20
. . . . . . g.5297
GGGGGTCTCACTGCAGAGATGAAGCTGCTTCTGGCCCTAGCAGGGCTCCTGGCCATTCTG c.120
G G L T A E M K L L L A L A G L L A I L p.40
. . . | 02 . . . g.5502
GCCACGCCCCAGCCCTCTGAAGGTGCTGCTCCAG | CTGTCCTGGGGGAGGTGGACACCTCG c.180
A T P Q P S E G A A P A | V L G E V D T S p.60
. . . . . . g.5562
TTGGTGCTGAGCTCCATGGAGGAGGCCAAGCAGCTGGTGGACAAGGCCTACAAGGAGCGG c.240
L V L S S M E E A K Q L V D K A Y K E R p.80
| 03 . . . . . g.5973
CGGGAAAG | CATCAAGCAGCGGCTTCGCAGCGGCTCAGCCAGCCCCATGGAACTCCTATCC c.300
R E S | I K Q R L R S G S A S P M E L L S p.100
. . . . . . g.6033
TACTTCAAGCAGCCGGTGGCAGCCACCAGGACGGCGGTGAGGGCCGCTGACTACCTGCAC c.360
Y F K Q P V A A T R T A V R A A D Y L H p.120
. . . . . . g.6093
GTGGCTCTAGACCTGCTGGAGAGGAAGCTGCGGTCCCTGTGGCGAAGGCCATTCAATGTC c.420
V A L D L L E R K L R S L W R R P F N V p.140
| 04 . . . . . . g.6345
ACTG | ATGTGCTGACGCCCGCCCAGCTGAATGTGTTGTCCAAGTCAAGCGGCTGCGCCTAC c.480
T D | V L T P A Q L N V L S K S S G C A Y p.160
. . . . . . g.6405
CAGGACGTGGGGGTGACTTGCCCGGAGCAGGACAAATACCGCACCATCACCGGGATGTGC c.540
Q D V G V T C P E Q D K Y R T I T G M C p.180
| 05 . . . . . g.6561
AACAACAG | ACGCAGCCCCACGCTGGGGGCCTCCAACCGTGCCTTTGTGCGCTGGCTGCCG c.600
N N R | R S P T L G A S N R A F V R W L P p.200
. . . . . . g.6621
GCGGAGTATGAGGACGGCTTCTCTCTTCCCTACGGCTGGACGCCCGGGGTCAAGCGCAAC c.660
A E Y E D G F S L P Y G W T P G V K R N p.220
. | 06 . . . . g.6763
GGCTTCCCGGTGGCTCTG | GCTCGCGCGGTCTCCAACGAGATCGTGCGCTTCCCCACTGAT c.720
G F P V A L | A R A V S N E I V R F P T D p.240
. . . . . . g.6823
CAGCTGACTCCGGACCAGGAGCGCTCACTCATGTTCATGCAATGGGGCCAGCTGTTGGAC c.780
Q L T P D Q E R S L M F M Q W G Q L L D p.260
. . . . . . g.6883
CACGACCTCGACTTCACCCCTGAGCCGGCCGCCCGGGCCTCCTTCGTCACTGGCGTCAAC c.840
H D L D F T P E P A A R A S F V T G V N p.280
. . . . | 07 . . g.7805
TGCGAGACCAGCTGCGTTCAGCAGCCGCCCTGCTTCCCGCTCAAG | ATCCCGCCCAATGAC c.900
C E T S C V Q Q P P C F P L K | I P P N D p.300
. . . . . . g.7865
CCCCGCATCAAGAACCAAGCCGACTGCATCCCGTTCTTCCGCTCCTGCCCGGCTTGCCCC c.960
P R I K N Q A D C I P F F R S C P A C P p.320
. . . . . . g.7925
GGGAGCAACATCACCATCCGCAACCAGATCAACGCGCTCACTTCCTTCGTGGACGCCAGC c.1020
G S N I T I R N Q I N A L T S F V D A S p.340
. . . . . . g.7985
ATGGTGTACGGCAGCGAGGAGCCCCTGGCCAGGAACCTGCGCAACATGTCCAACCAGCTG c.1080
M V Y G S E E P L A R N L R N M S N Q L p.360
. . . . . . g.8045
GGGCTGCTGGCCGTCAACCAGCGCTTCCAAGACAACGGCCGGGCCCTGCTGCCCTTTGAC c.1140
G L L A V N Q R F Q D N G R A L L P F D p.380
. . . . . . g.8105
AACCTGCACGATGACCCCTGTCTCCTCACCAACCGCTCAGCGCGCATCCCCTGCTTCCTG c.1200
N L H D D P C L L T N R S A R I P C F L p.400
| 08 . . . . . . g.10289
GCAG | GGGACACCCGTTCCAGTGAGATGCCCGAGCTCACCTCCATGCACACCCTCTTACTT c.1260
A G | D T R S S E M P E L T S M H T L L L p.420
. . . . . . g.10349
CGGGAGCACAACCGGCTGGCCACAGAGCTCAAGAGCCTGAACCCTAGGTGGGATGGGGAG c.1320
R E H N R L A T E L K S L N P R W D G E p.440
. . . . | 09 . . g.12281
AGGCTCTACCAGGAAGCCCGGAAGATCGTGGGGGCCATGGTCCAG | ATCATCACTTACCGG c.1380
R L Y Q E A R K I V G A M V Q | I I T Y R p.460
. . . . . . g.12341
GACTACCTGCCCCTGGTGCTGGGGCCAACGGCCATGAGGAAGTACCTGCCCACGTACCGT c.1440
D Y L P L V L G P T A M R K Y L P T Y R p.480
. . . . . . g.12401
TCCTACAATGACTCAGTGGACCCACGCATCGCCAACGTCTTCACCAATGCCTTCCGCTAC c.1500
S Y N D S V D P R I A N V F T N A F R Y p.500
. . . . . . g.12461
GGCCACACCCTCATCCAACCCTTCATGTTCCGCCTGGACAATCGGTACCAGCCCATGGAA c.1560
G H T L I Q P F M F R L D N R Y Q P M E p.520
. . . . . . g.12521
CCCAACCCCCGTGTCCCCCTCAGCAGGGTCTTTTTTGCCTCCTGGAGGGTCGTGCTGGAA c.1620
P N P R V P L S R V F F A S W R V V L E p.540
| 10 . . . . . . g.13076
G | GTGGCATTGACCCCATCCTCCGGGGCCTCATGGCCACCCCTGCCAAGCTGAATCGTCAG c.1680
G | G I D P I L R G L M A T P A K L N R Q p.560
. . . . . . g.13136
AACCAAATTGCAGTGGATGAGATCCGGGAGCGATTGTTTGAGCAGGTCATGAGGATTGGG c.1740
N Q I A V D E I R E R L F E Q V M R I G p.580
. . . . . | 11 . g.14051
CTGGACCTGCCTGCTCTGAACATGCAGCGCAGCAGGGACCACGGCCTCCCAG | GATACAAT c.1800
L D L P A L N M Q R S R D H G L P G | Y N p.600
. . . . . . g.14111
GCCTGGAGGCGCTTCTGTGGGCTCCCGCAGCCTGAAACTGTGGGCCAGCTGGGCACGGTG c.1860
A W R R F C G L P Q P E T V G Q L G T V p.620
. . . . . . g.14171
CTGAGGAACCTGAAATTGGCGAGGAAACTGATGGAGCAGTATGGCACGCCCAACAACATC c.1920
L R N L K L A R K L M E Q Y G T P N N I p.640
. . . . . . g.14231
GACATCTGGATGGGCGGCGTGTCCGAGCCTCTGAAGCGCAAAGGCCGCGTGGGCCCACTC c.1980
D I W M G G V S E P L K R K G R V G P L p.660
. . . . . | 12 . g.15082
CTCGCCTGCATCATCGGTACCCAGTTCAGGAAGCTCCGGGATGGTGATCG | GTTTTGGTGG c.2040
L A C I I G T Q F R K L R D G D R | F W W p.680
. . . . . . g.15142
GAGAACGAGGGTGTGTTCAGCATGCAGCAGCGACAGGCCCTGGCCCAGATCTCATTGCCC c.2100
E N E G V F S M Q Q R Q A L A Q I S L P p.700
. . . . . . g.15202
CGGATCATCTGCGACAACACAGGCATCACCACCGTGTCTAAGAACAACATCTTCATGTCC c.2160
R I I C D N T G I T T V S K N N I F M S p.720
. . . . . . g.15262
AACTCATATCCCCGGGACTTTGTCAACTGCAGTACACTTCCTGCATTGAACCTGGCTTCC c.2220
N S Y P R D F V N C S T L P A L N L A S p.740
. g.15280
TGGAGGGAAGCCTCCTAG c.2238
W R E A S X p.745
. . . . . . g.15340
aggccaggtaagggggtgcagcagtgaggggtatatctgggctggccagttggaaccacg c.*60
. . . . . . g.15400
gagatctccttgccctagatgagcccagccctgttctgggtgcagctgagaaaatgagtg c.*120
. . . . . . g.15460
actagacgttcatttgtgtgctcatgtatgtgcgaagtatataaattggcttttcatgcg c.*180
. . . . . . g.15520
tgtgtgttgtctgaacatggggagtgtttcatgggttatgtgtatgtgccatttatgtga c.*240
. . . . . . g.15580
gtgtgtgtttgtgctgatgagaatactgagtatgtggaaggcagcagagcggactggtga c.*300
. . . . . . g.15640
ggagcacagctcaggaactagactgcctgggttccaatcctggctctgtggcttgctagc c.*360
. . . . . . g.15700
tatgtgaccttgagcaaattaccctccttaaacaagagttttcttccttgtaaattacat c.*420
. . . . . . g.15760
ctgtcatggtttcttggagggcccacttgtatcctctggttcttcatttattgagcacct c.*480
. . . . . . g.15820
actacatgcaaggcactgtactaggcgtgagaagcatatagaggcaagaaagagatacca c.*540
. . . . . . g.15880
agatgccatctgtgtcctggttagcagagctggaccagtggtgccttggagggataagcc c.*600
. . . . . . g.15940
agctgcagctgggctgtgtggttgacttatgggcccagccagccaggctcaggccatggc c.*660
. . . . . . g.16000
tcccctttttcttcctcaccctgatttcttgcttattcactgaagttctcctgaagagga c.*720
. . . . . . g.16060
actgggcctgttgccctttctgtaccatttatttgctcccaatgtttatgataataaagg c.*780
. . g.16080
caccgctgatggggacctcc c.*800
(downstream sequence)
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