(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the MPL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering MPL transcript NM_005373.2.
(upstream sequence)
. . . . g.1045
cctgaagggaggatgggctaaggcaggcacacagtggcggagaag c.-1
. . . . . . g.1105
ATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTG c.60
M P S W A L F M V T S C L L L A P Q N L p.20
. | 02 . . . . g.1336
GCCCAAGTCAGCAGCCAAG | ATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGT c.120
A Q V S S Q D | V S L L A S D S E P L K C p.40
. . . . . . g.1396
TTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGT c.180
F S R T F E D L T C F W D E E E A A P S p.60
. . . | 03 . . . g.1766
GGGACATACCAGCTGCTGTATGCCTACCCGCG | GGAGAAGCCCCGTGCTTGCCCCCTGAGT c.240
G T Y Q L L Y A Y P R | E K P R A C P L S p.80
. . . . . . g.1826
TCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAA c.300
S Q S M P H F G T R Y V C Q F P D Q E E p.100
. . . . . . g.1886
GTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGG c.360
V R L F F P L H L W V K N V F L N Q T R p.120
. . . | 04 . . . g.2496
ACTCAGCGAGTCCTCTTTGTGGACAGTGTAG | GCCTGCCGGCTCCCCCCAGTATCATCAAG c.420
T Q R V L F V D S V G | L P A P P S I I K p.140
. . . . . . g.2556
GCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAA c.480
A M G G S Q P G E L Q I S W E E P A P E p.160
. . . . . . g.2616
ATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACT c.540
I S D F L R Y E L R Y G P R D P K N S T p.180
. . . . . . g.2676
GGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCT c.600
G P T V I Q L I A T E T C C P A L Q R P p.200
. . . . . . g.2736
CACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGAT c.660
H S A S A L D Q S P C A Q P T M P W Q D p.220
. . . | 05 . . . g.3190
GGACCAAAGCAGACCTCCCCAAGTAGAGAA | GCTTCAGCTCTGACAGCAGAGGGTGGAAGC c.720
G P K Q T S P S R E | A S A L T A E G G S p.240
. . . . . . g.3250
TGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCT c.780
C L I S G L Q P G N S Y W L Q L R S E P p.260
. . . . . . g.3310
GATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTG c.840
D G I S L G G S W G S W S L P V T V D L p.280
. | 06 . . . . . g.3630
CCTGGAGATGCAG | TGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACC c.900
P G D A V | A L G L Q C F T L D L K N V T p.300
. . . . . . g.3690
TGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCA c.960
C Q W Q Q Q D H A S S Q G F F Y H S R A p.320
. . | 07 . . . . g.9681
CGGTGCTGCCCCAGAGACAG | GTACCCCATCTGGGAGAACTGCGAAGAGGAAGAGAAAACA c.1020
R C C P R D R | Y P I W E N C E E E E K T p.340
. . . . . . g.9741
AATCCAGGACTACAGACCCCACAGTTCTCTCGCTGCCACTTCAAGTCACGAAATGACAGC c.1080
N P G L Q T P Q F S R C H F K S R N D S p.360
. . . . . . g.9801
ATTATTCACATCCTTGTGGAGGTGACCACAGCCCCGGGTACTGTTCACAGCTACCTGGGC c.1140
I I H I L V E V T T A P G T V H S Y L G p.380
. . | 08 . . . . g.10023
TCCCCTTTCTGGATCCACCAGGCTG | TGCGCCTCCCCACCCCAAACTTGCACTGGAGGGAG c.1200
S P F W I H Q A V | R L P T P N L H W R E p.400
. . . . . . g.10083
ATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAG c.1260
I S S G H L E L E W Q H P S S W A A Q E p.420
. . . . | 09 . g.12051
ACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAG | GTGCTGGAGCCG c.1320
T C Y Q L R Y T G E G H Q D W K | V L E P p.440
. . . . . . g.12111
CCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAG c.1380
P L G A R G G T L E L R P R S R Y R L Q p.460
. . . . . . g.12171
CTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGTCCCTGGAGCTCGTGGTCGGACCCA c.1440
L R A R L N G P T Y Q G P W S S W S D P p.480
. . | 10 . . . g.12491
ACTAGGGTGGAGACCGCCACCGAGACCG | CCTGGATCTCCTTGGTGACCGCTCTGCATCTA c.1500
T R V E T A T E T A | W I S L V T A L H L p.500
. . . . . . g.12551
GTGCTGGGCCTCAGCGCCGTCCTGGGCCTGCTGCTGCTGAGGTGGCAGTTTCCTGCACAC c.1560
V L G L S A V L G L L L L R W Q F P A H p.520
| 11 . . . . . . g.15467
TACAG | GAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGC c.1620
Y R | R L R H A L W P S L P D L H R V L G p.540
. . . | 12 . . . g.15741
CAGTACCTTAGGGACACTGCAGCCCTGAGCCCG | CCCAAGGCCACAGTCTCAGATACCTGT c.1680
Q Y L R D T A A L S P | P K A T V S D T C p.560
. . . . . . g.15801
GAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTG c.1740
E E V E P S L L E I L P K S S E R T P L p.580
. . . . . . g.15861
CCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGG c.1800
P L C S S Q A Q M D Y R R L Q P S C L G p.600
. . . . . . g.15921
ACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCAC c.1860
T M P L S V C P P M A E S G S C C T T H p.620
. . . . g.15969
ATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGA c.1908
I A N H S Y L P L S Y W Q Q P X p.635
. . . . . . g.16029
ggacaggctcctcactcccagttccctggacagagctaaactctcgagacttctctgtga c.*60
. . . . . . g.16089
acttccctaccctacccccacaacacaagcaccccagacctcacctccatccccctctgt c.*120
. . . . . . g.16149
ctgccctcacaattaggcttcattgcactgatcttactctactgctgctgacataaaacc c.*180
. . . . . . g.16209
aggaccctttctccacaggcaggctcatttcactaagctcctcctttactttctctctcc c.*240
. . . . . . g.16269
tctttgatgtcaaacgccttgaaaacaagcctccacttccccacacttcccatttactct c.*300
. . . . . . g.16329
tgagactacttcaattagttcccctactacactttgctagtgaaactgcccaggcaaagt c.*360
. . . . . . g.16389
gcacctcaaatcttctaattccaagatccaataggatctcgttaatcatcagttcctttg c.*420
. . . . . . g.16449
atctcgctgtaagatttgtcaaggctgactactcacttctcctttaaattctttcctacc c.*480
. . . . . . g.16509
ttggtcctgcctctttgagtatattagtaggttttttttatttgtttgagacagggtctc c.*540
. . . . . . g.16569
actctgtcacccaggctgcagtgcaatggcgcgatctcagctcactgcaacctccacctc c.*600
. . . . . . g.16629
cgggttcaagcgattcttgtgcctcggcctccctagtagctgggattacaggcgcacacc c.*660
. . . . . . g.16689
accacacacagctaattttttttttttttttttttttttttttttagacggagccttgct c.*720
. . . . . . g.16749
ctgttgccagactggagtgcagtggcacgatctcggctcactgcaacctctgcctcccgg c.*780
. . . . . . g.16809
gttcaagccattctgcctcagcctcccaagtagctgggagtacaggcgtctgccaccatg c.*840
. . . . . . g.16869
cctaatttttttctatttttaggagagaccggttttcaccacgttggccaggatggtctc c.*900
. . . . . . g.16929
gatatcctgatctcgtgatccgcctgcctctgcctcccaaagtgctgggattacaggtgt c.*960
. . . . . . g.16989
gacccactgcgcacagccccagctaattttcatatttttagtagagacagggttttgcca c.*1020
. . . . . . g.17049
tgttgcccaggctggtcttgaactcctaacctcgggtgatccacccaccttggcctccca c.*1080
. . . . . . g.17109
aagtgttaggattacaggcatgagccactgcgcccggctgagtgtactagtagttaagag c.*1140
. . . . . . g.17169
aataaactagatctagaatcagagctggattcaattcctgtccttcacatttactagctg c.*1200
. . . . . . g.17229
tgcaaccttgggcacataacttaatgtctttgagccttagttttttcatctgtaaaacag c.*1260
. . . . . . g.17289
ggataataacagcaccccatagagttgtgacgaggattgagataatctaagtaaagcaca c.*1320
. . . . . . g.17349
gtccctaggacatagtaaatgattcatatatccgaactactgttataattattccttctt c.*1380
. . . . . . g.17409
actctcctcttctagcatttcttccaattattacagtccttcaagattccatttcttaac c.*1440
. . . . . . g.17469
agtctccaatcccatctattctctgcctttactatatgttgaccattccaaagttcttat c.*1500
. . . . . . g.17529
ctctagctcagacatctactacagcactgtgatgctttatgcaactaactgtttacatat c.*1560
. . . . . . g.17589
ctgtcccctgctactagattgtgagctccttgagggaaaggaacatgatttatttgtcct c.*1620
. . . . . . g.17649
tttcccccagcacctagagtagtgcttggtgcatgatagtaggccttcaataaatttttt c.*1680
. g.17661
ctaaatgaatga c.*1692
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center