(used for variant description)
(last modified June 14, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_003620.3 in the PPM1D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering PPM1D transcript NM_003620.3.
(upstream sequence)
. . . . . g.5052
ggggaagcgcagtgcgcaggcgcaactgcctggctctgctcgctccggcgct c.-181
. . . . . . g.5112
ccggcccagctctcgcggacaagtccagacatcgcgcgcccccccttctccgggtccgcc c.-121
. . . . . . g.5172
ccctcccccttctcggcgtcgtcgaagataaacaatagttggccggcgagcgcctagtgt c.-61
. . . . . . g.5232
gtctcccgccgccggattcggcgggctgcgtgggaccggcgggatcccggccagccggcc c.-1
. . . . . . g.5292
ATGGCGGGGCTGTACTCGCTGGGAGTGAGCGTCTTCTCCGACCAGGGCGGGAGGAAGTAC c.60
M A G L Y S L G V S V F S D Q G G R K Y p.20
. . . . . . g.5352
ATGGAGGACGTTACTCAAATCGTTGTGGAGCCCGAACCGACGGCTGAAGAAAAGCCCTCG c.120
M E D V T Q I V V E P E P T A E E K P S p.40
. . . . . . g.5412
CCGCGGCGGTCGCTGTCTCAGCCGTTGCCTCCGCGGCCGTCGCCGGCCGCCCTTCCCGGC c.180
P R R S L S Q P L P P R P S P A A L P G p.60
. . . . . . g.5472
GGCGAAGTCTCGGGGAAAGGCCCAGCGGTGGCAGCCCGAGAGGCTCGCGACCCTCTCCCG c.240
G E V S G K G P A V A A R E A R D P L P p.80
. . . . . . g.5532
GACGCCGGGGCCTCGCCGGCACCTAGCCGCTGCTGCCGCCGCCGTTCCTCCGTGGCCTTT c.300
D A G A S P A P S R C C R R R S S V A F p.100
. . . . . . g.5592
TTCGCCGTGTGCGACGGGCACGGCGGGCGGGAGGCGGCACAGTTTGCCCGGGAGCACTTG c.360
F A V C D G H G G R E A A Q F A R E H L p.120
. . . . . . g.5652
TGGGGTTTCATCAAGAAGCAGAAGGGTTTCACCTCGTCCGAGCCGGCTAAGGTTTGCGCT c.420
W G F I K K Q K G F T S S E P A K V C A p.140
. . . . . | 02 . g.28346
GCCATCCGCAAAGGCTTTCTCGCTTGTCACCTTGCCATGTGGAAGAAACTGG | CGGAATGG c.480
A I R K G F L A C H L A M W K K L A | E W p.160
. . . . . . g.28406
CCAAAGACTATGACGGGTCTTCCTAGCACATCAGGGACAACTGCCAGTGTGGTCATCATT c.540
P K T M T G L P S T S G T T A S V V I I p.180
. . . . . . g.28466
CGGGGCATGAAGATGTATGTAGCTCACGTAGGTGACTCAGGGGTGGTTCTTGGAATTCAG c.600
R G M K M Y V A H V G D S G V V L G I Q p.200
. . . . . . g.28526
GATGACCCGAAGGATGACTTTGTCAGAGCTGTGGAGGTGACACAGGACCATAAGCCAGAA c.660
D D P K D D F V R A V E V T Q D H K P E p.220
. . . . | 03 . . g.38689
CTTCCCAAGGAAAGAGAACGAATCGAAGGACTTGGTGGGAG | TGTAATGAACAAGTCTGGG c.720
L P K E R E R I E G L G G S | V M N K S G p.240
. . . . . . g.38749
GTGAATCGTGTAGTTTGGAAACGACCTCGACTCACTCACAATGGACCTGTTAGAAGGAGC c.780
V N R V V W K R P R L T H N G P V R R S p.260
. . . . | 04 . . g.52723
ACAGTTATTGACCAGATTCCTTTTCTGGCAGTAGCAAGAGCACTTG | GTGATTTGTGGAGC c.840
T V I D Q I P F L A V A R A L G | D L W S p.280
. . . . . . g.52783
TATGATTTCTTCAGTGGTGAATTTGTGGTGTCACCTGAACCAGACACAAGTGTCCACACT c.900
Y D F F S G E F V V S P E P D T S V H T p.300
. . . . . . g.52843
CTTGACCCTCAGAAGCACAAGTATATTATATTGGGGAGTGATGGACTTTGGAATATGATT c.960
L D P Q K H K Y I I L G S D G L W N M I p.320
. . . . . | 05. g.61419
CCACCACAAGATGCCATCTCAATGTGCCAGGACCAAGAGGAGAAAAAATACCTGATG | GGT c.1020
P P Q D A I S M C Q D Q E E K K Y L M | G p.340
. . . . . . g.61479
GAGCATGGACAATCTTGTGCCAAAATGCTTGTGAATCGAGCATTGGGCCGCTGGAGGCAG c.1080
E H G Q S C A K M L V N R A L G R W R Q p.360
. . . . . . g.61539
CGTATGCTCCGAGCAGATAACACTAGTGCCATAGTAATCTGCATCTCTCCAGAAGTGGAC c.1140
R M L R A D N T S A I V I C I S P E V D p.380
. . . . . . g.61599
AATCAGGGAAACTTTACCAATGAAGATGAGTTATACCTGAACCTGACTGACAGCCCTTCC c.1200
N Q G N F T N E D E L Y L N L T D S P S p.400
. . . . . . g.61659
TATAATAGTCAAGAAACCTGTGTGATGACTCCTTCCCCATGTTCTACACCACCAGTCAAG c.1260
Y N S Q E T C V M T P S P C S T P P V K p.420
| 06 . . . . . . g.67872
| TCACTGGAGGAGGATCCATGGCCAAGGGTGAATTCTAAGGACCATATACCTGCCCTGGTT c.1320
| S L E E D P W P R V N S K D H I P A L V p.440
. . . . . . g.67932
CGTAGCAATGCCTTCTCAGAGAATTTTTTAGAGGTTTCAGCTGAGATAGCTCGAGAGAAT c.1380
R S N A F S E N F L E V S A E I A R E N p.460
. . . . . . g.67992
GTCCAAGGTGTAGTCATACCCTCAAAAGATCCAGAACCACTTGAAGAAAATTGCGCTAAA c.1440
V Q G V V I P S K D P E P L E E N C A K p.480
. . . . . . g.68052
GCCCTGACTTTAAGGATACATGATTCTTTGAATAATAGCCTTCCAATTGGCCTTGTGCCT c.1500
A L T L R I H D S L N N S L P I G L V P p.500
. . . . . . g.68112
ACTAATTCAACAAACACTGTCATGGACCAAAAAAATTTGAAGATGTCAACTCCTGGCCAA c.1560
T N S T N T V M D Q K N L K M S T P G Q p.520
. . . . . . g.68172
ATGAAAGCCCAAGAAATTGAAAGAACCCCTCCAACAAACTTTAAAAGGACATTAGAAGAG c.1620
M K A Q E I E R T P P T N F K R T L E E p.540
. . . . . . g.68232
TCCAATTCTGGCCCCCTGATGAAGAAGCATAGACGAAATGGCTTAAGTCGAAGTAGTGGT c.1680
S N S G P L M K K H R R N G L S R S S G p.560
. . . . . . g.68292
GCTCAGCCTGCAAGTCTCCCCACAACCTCACAGCGAAAGAACTCTGTTAAACTCACCATG c.1740
A Q P A S L P T T S Q R K N S V K L T M p.580
. . . . . . g.68352
CGACGCAGACTTAGGGGCCAGAAGAAAATTGGAAATCCTTTACTTCATCAACACAGGAAA c.1800
R R R L R G Q K K I G N P L L H Q H R K p.600
. g.68370
ACTGTTTGTGTTTGCTGA c.1818
T V C V C X p.605
. . . . . . g.68430
aatgcatctgggaaatgaggtttttccaaacttaggatataagagggctttttaaatttg c.*60
. . . . . . g.68490
gtgccgatgttgaactttttttaaggggagaaaattaaaagaaatatacagtttgacttt c.*120
. . . . . . g.68550
ttggaattcagcagttttatcctggccttgtacttgcttgtattgtaaatgtggattttg c.*180
. . . . . . g.68610
tagatgttagggtataagttgctgtaaaatttgtgtaaatttgtatccacacaaattcag c.*240
. . . . . . g.68670
tctctgaatacacagtattcagagtctctgatacacagtaattgtgacaatagggctaaa c.*300
. . . . . . g.68730
tgtttaaagaaatcaaaagaatctattagattttagaaaaacatttaaactttttaaaat c.*360
. . . . . . g.68790
acttattaaaaaatttgtataagccacttgtcttgaaaactgtgcaactttttaaagtaa c.*420
. . . . . . g.68850
attattaagcagactggaaaagtgatgtattttcatagtgacctgtgtttcacttaatgt c.*480
. . . . . . g.68910
ttcttagagccaagtgtcttttaaacattattttttatttctgatttcataattcagaac c.*540
. . . . . . g.68970
taaatttttcatagaagtgttgagccatgctacagttagtcttgtcccaattaaaatact c.*600
. . . . . . g.69030
atgcagtatctcttacatcagtagcatttttctaaaaccttagtcatcagatatgcttac c.*660
. . . . . . g.69090
taaatcttcagcatagaaggaagtgtgtttgcctaaaacaatctaaaacaattcccttct c.*720
. . . . . . g.69150
ttttcatcccagaccaatggcattattaggtcttaaagtagttactcccttctcgtgttt c.*780
. . . . . . g.69210
gcttaaaatatgtgaagttttccttgctatttcaataacagatggtgctgctaattccca c.*840
. . . . . . g.69270
acatttcttaaattattttatatcatacagttttcattgattatatgggtatatattcat c.*900
. . . . . . g.69330
ctaataaatcagtgaactgttcctcatgttgctgaatttgtagttgttggtttattttaa c.*960
. . . . . . g.69390
tggtatgtacaagttgagtatcccttatccaaaatgcttgggaccagaagtgtttcagat c.*1020
. . . . . . g.69450
tttttaaaattttggaatatttgctttatactgagcttttgagtgttcccaatctgaaat c.*1080
. . . . . . g.69510
tcaaaatgctctaatgagcatttcctttgagcatcatgcctgctctgaaaaagtttctga c.*1140
. . . . . . g.69570
ttctggagcattttggattttggattttcagattagggatgcttaacctggattaacatt c.*1200
. . . . . . g.69630
ctgttgtgccatgatcatgctttacagtgagtgtattttatttatttattattttgtttg c.*1260
. . . . . . g.69690
tttgtttgagatggagtctcactctgtcatccaggctagagtgcagtggcgtgatctcgg c.*1320
. . . . . . g.69750
ctgactgcaacctctgcctcccgggttcaagtgattctcctgcctcaatctctctcccca c.*1380
. . . . . . g.69810
gaagctgggattacaggtgtgtgccaccacacccggctaatttttttttttttttttgag c.*1440
. . . . . . g.69870
atggagtctagctctgtcatccaggctggagtgcagtggtgtgatctcggctccctgcaa c.*1500
. . . . . . g.69930
cctctgccttctgggttcctgcgattctcctgcctcagcctcctgagtagctgagattac c.*1560
. . . . . . g.69990
aggcacgcgccactgtgcccagccaatttttgtatttttagtagagatggggtttcacat c.*1620
. . . . . . g.70050
gtcagtcatgctggtcttgatctcctgacctcgtgatccacccgcctcgacctcccaaag c.*1680
. . . . . . g.70110
tactgggattacaggcgtgagccaccgcatccggcctgagttttatgctttcaatgtatt c.*1740
. . . . . . g.70170
tcttacatttcagttcaagtgattttcatgtctcagcctcctgagtagctggaactacag c.*1800
. . . . . . g.70230
gtgcgtgccaccatgcctggctaagttttgtatttttagtagagatgggttttcatcatg c.*1860
. . . . . . g.70290
ttggccaagatggtcttgatctcttgacctcatgatccaccagcctaggcctcccaaagt c.*1920
. . . . . . g.70350
gctgggattacaggtgtgagccaccgtgcccagccaactatgccattatttaaccatgtc c.*1980
. . . . . . g.70410
cacacattctggttattttcaatattttgcagaagataattcttgatcggtgtgtcttat c.*2040
. . . . . . g.70470
gccacaaggattaaaatatgtattcattgctacaaaacaatatctcgaaatttagcagtt c.*2100
. . . . . . g.70530
taaaacaacaaatattatctccagtttctgagcctcagaaatctgagagtggtttagctg c.*2160
. . . . . . g.70590
ggtgatagtctcgtggttttggtcaagctaccaaccagggctacaatctttcgaaggtgt c.*2220
. . . . . . g.70650
cattggggctagaagatctgcttcccgcaagactcacagctgttggcaggagacctcagt c.*2280
. . . . . . g.70710
ttgttgccacatgttcccctccagagggcctctcacaacatggcagttatttgtccccag c.*2340
. . . . . . g.70770
agcaagcaacaccggagggcaaggaagaagccatgatgttttttgtaacctagcctctga c.*2400
. . . . . . g.70830
aagtgtcataccaattctgtattttgttggtcacacagaccaagtcaactacaacgtggg c.*2460
. . . . . . g.70890
agactcctacacaaggcatgaattctaggaggtgggcatttttaagtgtcatctggaagg c.*2520
. . . . . . g.70950
aggctgtcacaacctggaagttaaaagcattgatattctgaaatacagcgtgtataacat c.*2580
. . . . . . g.71010
tgttttagtagggtgtgcaatagttatgttttggtaatagcattaatgaacaatgttatt c.*2640
. . . . . . g.71070
ttcatcttccagacatctggaagattgctctagtggagtaaaacatcttaatgtattttg c.*2700
. . g.71098
tccctaaataaactatctcactaacaaa c.*2728
(downstream sequence)
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