(used for mutation description)
(last modified April 2, 2012)
This file was created to facilitate the description of sequence variants in the MYPN gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_032118.1, covering MYPN transcript NM_032578.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . . g.8368
gtggaatgtttcacaggcacatggtttatacagctcaaaataacttgggacc c.-241
. . . . . . g.8428
tgtgagctgacaaatgctctggctccggtggtgacaggttgtccagcttcttacagccat c.-181
. . . . . . g.8488
cttcactgaaactaaggttaactcctcactctctatggacggctactctctatttccaag c.-121
. . . . . . g.8548
ggcgtgaagaatttccctcttctcctgtgctttcatctaaaagttctccctggataatta c.-61
. . . . . . | 02 g.20322
tcattgcagtggagtgcctggattggacatcctcatctgggtcaactaaaaaaagaaag | c c.-1
. . . . . . g.20382
ATGCAAGACGACAGCATAGAAGCTTCTACTTCCATATCTCAGCTTCTAAGAGAGAGCTAT c.60
M Q D D S I E A S T S I S Q L L R E S Y p.20
. . . . . . g.20442
TTAGCTGAAACCAGACATCGGGGAAACAATGAGAGGAGTCGAGCGGAGCCCTCCTCCAAC c.120
L A E T R H R G N N E R S R A E P S S N p.40
. . . . . . g.20502
CCTTGCCATTTCGGCAGTCCTTCTGGGGCCGCTGAAGGAGGCGGAGGCCAAGATGACCTT c.180
P C H F G S P S G A A E G G G G Q D D L p.60
. . . . . . g.20562
CCAGATCTTTCAGCCTTTCTGAGCCAAGAAGAATTAGACGAAAGTGTCAATTTGGCAAGA c.240
P D L S A F L S Q E E L D E S V N L A R p.80
. . . . . . g.20622
CTGGCCATCAATTACGACCCTTTGGAGAAGGCAGATGAAACTCAAGCTAGAAAACGACTT c.300
L A I N Y D P L E K A D E T Q A R K R L p.100
. . . . . . g.20682
TCTCCTGATCAGATGAAACACTCACCTAATTTAAGTTTTGAGCCTAACTTCTGCCAGGAT c.360
S P D Q M K H S P N L S F E P N F C Q D p.120
. . . . . . g.20742
AACCCTCGAAGTCCCACCAGCTCTAAAGAAAGCCCCCAGGAGGCAAAAAGGCCACAGTAT c.420
N P R S P T S S K E S P Q E A K R P Q Y p.140
. . . . . . g.20802
TGTTCTGAAACCCAGTCCAAAAAAGTATTTTTAAATAAGGCTGCCGACTTCATTGAAGAG c.480
C S E T Q S K K V F L N K A A D F I E E p.160
. . . . . . g.20862
CTATCCTCCCTTTTCAAATCCCACAGCTCCAAAAGGATTAGACCTCGTGCCTGCAAAAAC c.540
L S S L F K S H S S K R I R P R A C K N p.180
. . . . . . g.20922
CACAAGAGTAAACTGGAATCTCAAAACAAAGTTATGCAGGAAAACAGCTCCAGTTTCTCA c.600
H K S K L E S Q N K V M Q E N S S S F S p.200
. . . . . . g.20982
GATCTGTCAGAAAGACGAGAAAGATCTTCTGTTCCCATCCCTATCCCTGCGGATACCAGG c.660
D L S E R R E R S S V P I P I P A D T R p.220
. . . . . . g.21042
GATAATGAAGTGAATCACGCCCTGGAACAGCAGGAAGCCAAGAGGCGTGAAGCGGAGCAG c.720
D N E V N H A L E Q Q E A K R R E A E Q p.240
. . . . . . g.21102
GCTGCCAGTGAGGCGGCTGGTGGAGACACTACACCAGGGTCTTCCCCTTCATCTCTGTAC c.780
A A S E A A G G D T T P G S S P S S L Y p.260
. . . . . . g.21162
TATGAAGAACCTCTGGGGCAACCTCCCCGGTTCACTCAAAAGTTACGGAGCAGAGAAGTT c.840
Y E E P L G Q P P R F T Q K L R S R E V p.280
. . . . . . g.21222
CCAGAAGGAACTCGAGTACAGTTGGATTGCATAGTGGTAGGAATTCCACCACCTCAAGTA c.900
P E G T R V Q L D C I V V G I P P P Q V p.300
| 03 . . . . . . g.41881
AG | GTGGTACTGTGAAGGCAAGGAGCTTGAAAATTCCCCAGATATTCACATCGTCCAGGCA c.960
R | W Y C E G K E L E N S P D I H I V Q A p.320
. . . . . . g.41941
GGAAATCTGCACTCACTGACCATTGCGGAAGCCTTTGAAGAGGACACAGGACGCTATTCC c.1020
G N L H S L T I A E A F E E D T G R Y S p.340
. . . . . | 04 g.44360
TGCTTTGCTTCTAACATCTATGGGACAGATTCGACTTCTGCTGAGATTTATATAGAAG | GG c.1080
C F A S N I Y G T D S T S A E I Y I E G | p.360
. . . . . | 05 . g.47246
GTTTCTTCTTCTGACTCAGAAGGCGACCCTAACAAGGAAGAGATGAATCG | AATCCAGAAG c.1140
V S S S D S E G D P N K E E M N R | I Q K p.380
. . . . . . g.47306
CCAAATGAGGTGTCATCTCCTCCCACTACCTCTGCAGTCATTCCTCCAGCAGTACCCCAA c.1200
P N E V S S P P T T S A V I P P A V P Q p.400
. . . . | 06 . . g.48938
GCCCAGCATTTGGTGGCCCAACCTCGTGTGGCAACCATCCAGCAG | TGTCAGAGCCCCACC c.1260
A Q H L V A Q P R V A T I Q Q | C Q S P T p.420
. . . . . | 07. g.57372
AATTACTTGCAGGGATTGGATGGAAAACCTATCATTGCAGCTCCTGTGTTTACAAAG | ATG c.1320
N Y L Q G L D G K P I I A A P V F T K | M p.440
. . . . . . g.57432
CTACAAAATTTGTCAGCTTCTGAGGGTCAGCTGGTTGTCTTTGAATGCAGAGTAAAAGGA c.1380
L Q N L S A S E G Q L V V F E C R V K G p.460
. . . . . . g.57492
GCTCCATCTCCTAAGGTTGAGTGGTATAGAGAAGGGACTTTAATAGAAGATTCTCCAGAT c.1440
A P S P K V E W Y R E G T L I E D S P D p.480
. | 08 . . | 09 . . g.64602
TTTAGGATTTTACAGAAAA | AACCTCGATCCATGGCAGAGCCAG | AGGAGATTTGCACCTTG c.1500
F R I L Q K K | P R S M A E P E | E I C T L p.500
. . . . . . g.64662
GTCATTGCTGAGGTGTTTGCAGAAGATTCTGGGTGCTTCACATGTACTGCAAGCAACAAA c.1560
V I A E V F A E D S G C F T C T A S N K p.520
. . . . | 10 . . g.65197
TACGGCACAGTGTCAAGCATTGCACAGCTGCACGTGAGAG | GAAATGAGGACCTCAGCAAC c.1620
Y G T V S S I A Q L H V R G | N E D L S N p.540
. . . . . . g.65257
AACGGGTCTCTTCACTCAGCCAACTCTACCACCAACCTGGCAGCTATTGAGCCACAGCCC c.1680
N G S L H S A N S T T N L A A I E P Q P p.560
. . . . . . g.65317
TCCCCACCCCACTCAGAGCCTCCATCTGTGGAACAACCCCCCAAACCCAAACTCGAGGGG c.1740
S P P H S E P P S V E Q P P K P K L E G p.580
. . . . . . g.65377
GTTCTGGTGAACCACAATGAGCCCCGGTCCAGCTCCAGGATTGGGCTTCGTGTGCACTTC c.1800
V L V N H N E P R S S S R I G L R V H F p.600
. . . . . . g.65437
AACCTGCCTGAAGATGACAAAGGAAGTGAAGCATCCTCCGAGGCTGGTGTGGTGACCACC c.1860
N L P E D D K G S E A S S E A G V V T T p.620
. . . . . . g.65497
AGACAGACCAGGCCCGATTCTTTCCAGGAGAGGTTCAACGGACAGGCAACAAAAACCCCA c.1920
R Q T R P D S F Q E R F N G Q A T K T P p.640
. . . . . | 11 . g.72956
GAGCCTTCTTCCCCCGTGAAAGAGCCCCCTCCAGTTCTGGCCAAACCCAAACT | TGATTCC c.1980
E P S S P V K E P P P V L A K P K L | D S p.660
. . . . . . g.73016
ACTCAGTTACAACAGCTTCATAACCAAGTCTTACTGGAACAACACCAATTGCAAAACCCA c.2040
T Q L Q Q L H N Q V L L E Q H Q L Q N P p.680
. . . . . . g.73076
CCTCCTTCATCTCCTAAGGAGTTTCCTTTCAGCATGACTGTTTTGAACTCCAATGCTCCC c.2100
P P S S P K E F P F S M T V L N S N A P p.700
. . . . . . g.73136
CCAGCGGTGACAACATCCAGTAAGCAGGTGAAGGCTCCTTCATCACAGACGTTCAGCTTG c.2160
P A V T T S S K Q V K A P S S Q T F S L p.720
. . . . . . g.73196
GCCCGGCCGAAGTATTTCTTCCCCTCCACGAACACCACCGCAGCAACTGTGGCCCCTTCC c.2220
A R P K Y F F P S T N T T A A T V A P S p.740
. . . . . . g.73256
AGCTCTCCGGTGTTCACTTTGAGCAGCACTCCTCAAACTATTCAGAGGACAGTGAGCAAA c.2280
S S P V F T L S S T P Q T I Q R T V S K p.760
. . . . . . g.73316
GAAAGCCTCTTAGTGTCTCACCCCTCTGTGCAAACCAAATCTCCAGGAGGGCTTTCCATC c.2340
E S L L V S H P S V Q T K S P G G L S I p.780
. . . . . . g.73376
CAAAATGAGCCACTCCCACCAGGCCCAACAGAACCAACACCACCACCATTCACATTTTCC c.2400
Q N E P L P P G P T E P T P P P F T F S p.800
. . . . . . g.73436
ATCCCCAGCGGAAACCAGTTTCAGCCCCGCTGTGTGTCCCCAATTCCTGTCTCTCCTACC c.2460
I P S G N Q F Q P R C V S P I P V S P T p.820
. . . . . . g.73496
AGCCGGATTCAGAACCCAGTGGCTTTCCTCAGCTCTGTTCTGCCTTCTCTCCCTGCCATC c.2520
S R I Q N P V A F L S S V L P S L P A I p.840
. . . . | 12 . . g.74222
CCACCCACAAATGCCATGGGGCTGCCTAGAAGTGCACCATCCAT | GCCATCCCAGGGATTA c.2580
P P T N A M G L P R S A P S M | P S Q G L p.860
. . . . . . g.74282
GCGAAGAAAAATACAAAGTCTCCTCAACCAGTGAATGATGATAACATTCGTGAAACTAAG c.2640
A K K N T K S P Q P V N D D N I R E T K p.880
. . . . . . g.74342
AACGCAGTGATTCGAGACTTGGGGAAAAAAATAACTTTCAGTGATGTCAGACCAAACCAG c.2700
N A V I R D L G K K I T F S D V R P N Q p.900
| 13 . . . . . . g.87845
CAG | GAGTACAAAATTTCAAGCTTTGAGCAGAGGCTGATGAATGAAATAGAGTTTCGCTTG c.2760
Q | E Y K I S S F E Q R L M N E I E F R L p.920
. . . . . . g.87905
GAACGTACTCCTGTTGATGAATCAGATGATGAAATTCAACATGATGAGATCCCCACGGGC c.2820
E R T P V D E S D D E I Q H D E I P T G p.940
. . . . . . g.87965
AAGTGTATTGCTCCCATCTTTGACAAGAGACTCAAGCACTTCCGGGTCACAGAAGGCTCT c.2880
K C I A P I F D K R L K H F R V T E G S p.960
. . . . | 14 . . g.93261
CCAGTCACATTCACCTGCAAAATTGTTGGGATACCTGTTCCAAAG | GTTTACTGGTTCAAA c.2940
P V T F T C K I V G I P V P K | V Y W F K p.980
. . . . . . g.93321
GATGGGAAGCAGATTTCTAAGAGAAATGAGCACTGCAAAATGAGGCGAGAAGGAGATGGG c.3000
D G K Q I S K R N E H C K M R R E G D G p.1000
. . . . . . g.93381
ACATGCTCTCTGCACATTGAATCCACTACCAGTGATGACGATGGCAACTACACCATCATG c.3060
T C S L H I E S T T S D D D G N Y T I M p.1020
. | 15 . . . . . g.94378
GCAGCCAACCCCCAG | GGGAGAATCAGCTGTTCTGGCCACTTGATGGTACAAAGTTTGCCC c.3120
A A N P Q | G R I S C S G H L M V Q S L P p.1040
. . . | 16 . . g.96257
ATTCGCAGTCGGCTAACCTCTGCTGGTCAGTCTCACAG | GGGAAGATCCCGAGTGCAAGAA c.3180
I R S R L T S A G Q S H R | G R S R V Q E p.1060
. . . . . . g.96317
AGAGACAAAGAGCCCCTACAGGAACGCTTTTTCCGACCACATTTCCTGCAGGCTCCTGGG c.3240
R D K E P L Q E R F F R P H F L Q A P G p.1080
. . . . | 17 . . g.98266
GATATGGTAGCTCATGAGGGGCGCCTCTGTCGGCTGGACTGTAAG | GTGAGTGGTTTACCG c.3300
D M V A H E G R L C R L D C K | V S G L P p.1100
. . . . . . g.98326
CCCCCGGAGCTGACATGGCTACTCAATGGCCAACCTGTGCTACCAGATGCCTCCCACAAG c.3360
P P E L T W L L N G Q P V L P D A S H K p.1120
. . . . . . g.98386
ATGCTGGTCAGGGAGACCGGAGTCCACTCTCTGCTCATTGACCCACTCACTCAGCGCGAC c.3420
M L V R E T G V H S L L I D P L T Q R D p.1140
. . . . . . g.98446
GCAGGGACCTATAAGTGCATCGCTACCAACAAAACCGGGCAGAATTCTTTTAGTCTGGAG c.3480
A G T Y K C I A T N K T G Q N S F S L E p.1160
. | 18 . . . . . g.100759
CTCTCTGTAGTAG | CCAAAGAGGTGAAGAAAGCACCTGTGATCCTGGAGAAACTACAGAAC c.3540
L S V V A | K E V K K A P V I L E K L Q N p.1180
. . . . . . g.100819
TGCGGTGTTCCCGAAGGCCACCCCGTGAGACTGGAGTGCCGCGTGATAGGCATGCCCCCA c.3600
C G V P E G H P V R L E C R V I G M P P p.1200
. . . . . | 19 g.105654
CCTGTGTTCTACTGGAAGAAAGACAATGAGACCATCCCTTGCACCAGAGAGAGGATCAG | T c.3660
P V F Y W K K D N E T I P C T R E R I S | p.1220
. . . . . . g.105714
ATGCACCAGGACACAACAGGGTATGCCTGCCTTCTCATTCAGCCAGCCAAGAAATCAGAC c.3720
M H Q D T T G Y A C L L I Q P A K K S D p.1240
. . . . . . g.105774
GCTGGATGGTACACGTTGTCAGCCAAGAATGAAGCCGGCATCGTGTCGTGCACTGCCAGG c.3780
A G W Y T L S A K N E A G I V S C T A R p.1260
. | 20 . . . . . g.109216
CTGGATATATACG | CTCAGTGGCACCATCAGATCCCACCGCCCATGTCTGTCCGGCCCAGT c.3840
L D I Y A | Q W H H Q I P P P M S V R P S p.1280
. . . . . . g.109276
GGCAGTCGCTACGGATCTCTCACCAGTAAAGGACTTGACATATTTTCTGCCTTTTCCTCC c.3900
G S R Y G S L T S K G L D I F S A F S S p.1300
. . . . . . g.109336
ATGGAAAGCACGATGGTGTATTCATGCTCTTCTCGGAGTGTAGTGGAGAGTGATGAACTT c.3960
M E S T M V Y S C S S R S V V E S D E L p.1320
g.109339
TAA c.3963
X p.1320
. . . . . . g.109399
gaatgtctaggtacctgctgtgtaagagagcggactgtggagggggaatgagaacaagcc c.*60
. . . . . . g.109459
agacttggtggtttccaagcaaccgaagttgagtaagttcccacactgctggacctgtgg c.*120
. . . . . . g.109519
caaagagtgctttgaataagtcagctagggattcttgcagtctcagctgagggagaaagg c.*180
. . . . . . g.109579
tagggctgtgccttctaaagattccaacagagatgtgagaagataatacagatgaaccaa c.*240
. . . . . . g.109639
agatgtcacacagttgccatccactgctttgggaaaaaactagcatgctcccctgctccc c.*300
. . . . . . g.109699
tgttgtgttagggatgtttaggtcatactaggagcaattaggagccatatgcctgggctg c.*360
. . . . . . g.109759
agaagagctaggcagtagtgaccttaggatatgactaactcaccaaacaatgccaaggag c.*420
. . . . . . g.109819
aaaggcggacaggtcaccatcacctttcatcgattacatgtatagcagtagttttggtga c.*480
. . . . . . g.109879
attcaccaaatcagcttccacttagcattaggaggtcatgccatacaactcacgtatgcg c.*540
. . . . . . g.109939
ggcaaacacttttgatttgcatatcctgggtgtactgagccacataataaggtgtcaaaa c.*600
. . . . . . g.109999
tgtgcttgagattccaaaaacttgctgaaacacttgatattgcacagtgcacttattttg c.*660
. . . . . . g.110059
tggccaaagcatggccttaccagcttgtctgcactattttcttttgggtggtgactgttt c.*720
. . . . . . g.110119
ttttctgactttgcatatccctagacactagaactaaaggattggtaataaaccaatcag c.*780
. . . . . . g.110179
aaagaaatcctctgtggggtcactttaaaaactactagcttcaactaccacttacaaaat c.*840
. . . . . . g.110239
gtgcaagagtcatcatttgcccataaaatacacctcatgggctcctacccctttccccaa c.*900
. . . . . . g.110299
aagtctgaaagtgtaggaggaaggaagagatacaaacaaggagaggaaatgatgggagag c.*960
. . . . . . g.110359
tgttgtttttgtcacttgccccagcagagcaggggttttggaaggagaggtctttaatag c.*1020
. . . . . . g.110419
ctttgaaatgctttgagatcattggtcaaattgcattttctatgtagagaatattctgct c.*1080
. . . . . . g.110479
aggtggaaaagttgggagaaaggggaatatgcatctttattctaatcaccaattcaaacc c.*1140
. . . . . . g.110539
ctgcctcttaaggaatttttagacttaagttcactgtgatatccctagtacctagaagag c.*1200
. . . . . . g.110599
tacctagcacaaagtagacattcaataaatatttgctggttgaatgaatcttctgttatt c.*1260
. . . . . . g.110659
atgtctattataagataacctaatcttatattctgcaggaatatgccacccacacaccag c.*1320
. . . . . . g.110719
tccaaacactgccctgggaatgctcatcacagcacagtttgctctaggctgtgcagggaa c.*1380
. . . . . . g.110779
atgaattgcaggtgtctgttttcaattccctgtgctggaatccctggtgctgtctgtgcc c.*1440
. . . . . . g.110839
aagcacactcagctggcattgtatttgtgtgaacagacagtaactgcttagaaaggcttg c.*1500
. . . . . . g.110899
aaactgtcttcacttcaaggcaaggatttccagcataaaaataaattcattcactggaga c.*1560
g.110901
aa c.*1562
(downstream sequence)
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