(used for variant description)
(last modified March 1, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_019066.4 in the MAGEL2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering MAGEL2 transcript NM_019066.4.
(upstream sequence)
. . . . g.5044
agggagggagcctctgaacagccacgtaggcattctcttctctc c.-61
. . . . . . g.5104
tggaggaaaaggcccagcagctgtccgaggaaaagacccaccagctgtcagcaaagggac c.-1
. . . . . . g.5164
ATGTCGCAGCTAAGTAAGAATCTGGGTGACTCGAGTCCTCCGGCGGAGGCCCCGAAGCCG c.60
M S Q L S K N L G D S S P P A E A P K P p.20
. . . . . . g.5224
CCTGTCTATAGCCGCCCTACGGTTCTGATGCGGGCCCCGCCCGCTTCCTCCCGGGCTCCG c.120
P V Y S R P T V L M R A P P A S S R A P p.40
. . . . . . g.5284
CCAGTCCCTTGGGATCCACCTCCAATTGACTTGCAGGCTTCATTGGCCGCTTGGCAGGCA c.180
P V P W D P P P I D L Q A S L A A W Q A p.60
. . . . . . g.5344
CCTCAGCCTGCCTGGGAGGCCCCACAGGGCCAGCTGCCCGCCCCGGTGGTTCCGATGACC c.240
P Q P A W E A P Q G Q L P A P V V P M T p.80
. . . . . . g.5404
CAGCCTCCTGCCCTAGGGGGCCCGATAGTCCCGGCTCCCCCGCTGGGGGGCCCGATGGGT c.300
Q P P A L G G P I V P A P P L G G P M G p.100
. . . . . . g.5464
AAGCCTCCGACTCCCGGGGTCCTGATGGTGCATCCTCCACCTCCGGGAGCCCCGATGGCC c.360
K P P T P G V L M V H P P P P G A P M A p.120
. . . . . . g.5524
CAGCCTCCGACCCCGGGAGTCCTGATGGTGCATCCTTCAGCTCCCGGAGCTCCCATGGCC c.420
Q P P T P G V L M V H P S A P G A P M A p.140
. . . . . . g.5584
CATCCTCCTCCTCCGGGGACCCCAATGTCCCACCCTCCCCCTCCGGGGACCCCAATGGCC c.480
H P P P P G T P M S H P P P P G T P M A p.160
. . . . . . g.5644
CATCCTCCTCCTCCGGGGACCCCGATGGCCCATCCTCCTCCTCCGGGGACCCCGATGGTG c.540
H P P P P G T P M A H P P P P G T P M V p.180
. . . . . . g.5704
CATCCTCCTCCTCCGGGGACCCCGATGGCTCATCCTCCCCCTCCGGGGACACCGATGGCT c.600
H P P P P G T P M A H P P P P G T P M A p.200
. . . . . . g.5764
CATCCTCCCCCTCCGGGGACACCGATGGCTCATCCTCCACCTCCGGGGACACCGATGGCT c.660
H P P P P G T P M A H P P P P G T P M A p.220
. . . . . . g.5824
CATCCTCCCCCTCCGGGTACACCGATGGCCCAGCCTCCAGCTCCGGGAGTCCTGATGGCC c.720
H P P P P G T P M A Q P P A P G V L M A p.240
. . . . . . g.5884
CAGCCTCTGACTCCGGGAGTCCTGATGGTCCAGCCTGCTGCTCCGGGAGCACCGATGGTC c.780
Q P L T P G V L M V Q P A A P G A P M V p.260
. . . . . . g.5944
CAGCCGCCTCCAGCAGCCATGATGACCCAGCCTCAGCCTTCAGGAGCACCGATGGCCAAG c.840
Q P P P A A M M T Q P Q P S G A P M A K p.280
. . . . . . g.6004
CCTCCAGGTCCAGGAGTCCTGATGATTCATCCTCCAGGTGCGAGAGCTCCGATGACCCAG c.900
P P G P G V L M I H P P G A R A P M T Q p.300
. . . . . . g.6064
CCTCCAGCTTCAGGAGCACCGATGGCACAGCCGGCGGCCCCACCTGCACAGCCGATGGCC c.960
P P A S G A P M A Q P A A P P A Q P M A p.320
. . . . . . g.6124
CCACCTGCACAGCCGATGGCTTCTTGGGCCCCGCAGGCTCAGCCTCTGATCCTGCAAATC c.1020
P P A Q P M A S W A P Q A Q P L I L Q I p.340
. . . . . . g.6184
CAGTCTCAAGTTATAAGGGCTCCTCCGCAGGTTCCCCAGGGCCCGCAGGCACCCCCAGCG c.1080
Q S Q V I R A P P Q V P Q G P Q A P P A p.360
. . . . . . g.6244
CAGCTAGCCACACCCCCGGGCTGGCAGGCGACCTCGCCAGGATGGCAGGCCACGCAGCAA c.1140
Q L A T P P G W Q A T S P G W Q A T Q Q p.380
. . . . . . g.6304
GGCTGGCAGGCCACTCCCCTGACTTGGCAGACCACGCAGGTCACCTGGCAGGCACCAGCC c.1200
G W Q A T P L T W Q T T Q V T W Q A P A p.400
. . . . . . g.6364
GTTACCTGGCAGGTGCCGCCGCCCATGCGCCAGGGGCCCCCGCCCATCCGCCCTGGCCCA c.1260
V T W Q V P P P M R Q G P P P I R P G P p.420
. . . . . . g.6424
CCACCCATCCGCCCTGGCCCACCACCGGTGCGACAGGCCCCACCGCTGATCCGCCAGGCC c.1320
P P I R P G P P P V R Q A P P L I R Q A p.440
. . . . . . g.6484
CCACCGGTGATCCGCCAGGCCCCACCCGTGATCCGCCAGGCCCCACCCGTGATCCGCCAG c.1380
P P V I R Q A P P V I R Q A P P V I R Q p.460
. . . . . . g.6544
GCCCCCGCTGTGATCCGCCAGGCCCCACCTGTGATCCGCCAGGCCCCACCTGTGATCCGC c.1440
A P A V I R Q A P P V I R Q A P P V I R p.480
. . . . . . g.6604
CAGGCTCCACCTGTGATCCGCCAGGCCCCGCCGCTGATCCGCCAGGCGCCGCCGCCCATC c.1500
Q A P P V I R Q A P P L I R Q A P P P I p.500
. . . . . . g.6664
CGACCTGCCCCACAGGTCCTGGCCACCCAGCCACCGCTCTGGCAGGCCCTGCCACCCCCA c.1560
R P A P Q V L A T Q P P L W Q A L P P P p.520
. . . . . . g.6724
CCTCCACTGCGGCAGGCCCCGCAGGCTAGGCTGCCGGCCCCGCAGGTGCAGGCGGCGCCG c.1620
P P L R Q A P Q A R L P A P Q V Q A A P p.540
. . . . . . g.6784
CAGGTGCCTACGGCCCCACCTGCTACGCAGGTACCCGCGGCGCCGCCCGCTGGCCCGCAG c.1680
Q V P T A P P A T Q V P A A P P A G P Q p.560
. . . . . . g.6844
GTGCCCCAGCCTGTGCTGCCGGCCCCGCTGTCTGCCCCACTGTCTGCCCCGCAGGCTGTG c.1740
V P Q P V L P A P L S A P L S A P Q A V p.580
. . . . . . g.6904
CACTGCCCTTCCATCATCTGGCAGGCCCCCAAAGGTCAGCCCCCGGTGCCACACGAGATT c.1800
H C P S I I W Q A P K G Q P P V P H E I p.600
. . . . . . g.6964
CCAACGTCAATGGAATTCCAGGAGGTGCAGCAGACACAGGCGCTGGCCTGGCAGGCCCAG c.1860
P T S M E F Q E V Q Q T Q A L A W Q A Q p.620
. . . . . . g.7024
AAGGCCCCCACTCACATCTGGCAGCCCCTGCCTGCCCAGGAGGCCCAGAGGCAGGCTCCC c.1920
K A P T H I W Q P L P A Q E A Q R Q A P p.640
. . . . . . g.7084
CCCTTGGTCCAGCTGGAGCAGCCCTTTCAGGGAGCCCCGCCCTCCCAAAAAGCCGTGCAA c.1980
P L V Q L E Q P F Q G A P P S Q K A V Q p.660
. . . . . . g.7144
ATCCAGCTACCCCCCCAGCAGGCCCAGGCATCGGGTCCGCAAGCGGAGGTGCCCACACTG c.2040
I Q L P P Q Q A Q A S G P Q A E V P T L p.680
. . . . . . g.7204
CCGCTCCAGCCTTCCTGGCAGGCACCGCCTGCAGTCTTGCAGGCCCAGCCCGGACCCCCG c.2100
P L Q P S W Q A P P A V L Q A Q P G P P p.700
. . . . . . g.7264
GTAGCAGCGGCAAATTTTCCCCTGGGCTCCGCTAAATCATTGATGACTCCATCAGGAGAA c.2160
V A A A N F P L G S A K S L M T P S G E p.720
. . . . . . g.7324
TGCAGGGCCTCTTCTATAGACCGCAGGGGCTCCTCTAAAGAGCGCAGGACCTCCTCGAAG c.2220
C R A S S I D R R G S S K E R R T S S K p.740
. . . . . . g.7384
GAGCGCAGGGCCCCTTCAAAAGACCGCATGATCTTTGCTGCCACCTTCTGTGCTCCCAAG c.2280
E R R A P S K D R M I F A A T F C A P K p.760
. . . . . . g.7444
GCAGTGTCAGCTGCGCGAGCACACCTGCCAGCTGCCTGGAAAAACCTGCCTGCCACACCG c.2340
A V S A A R A H L P A A W K N L P A T P p.780
. . . . . . g.7504
GAGACCTTTGCTCCCTCCTCAAGTGTCTTCCCAGCTACCTCCCAGTTTCAGCCTGCCTCT c.2400
E T F A P S S S V F P A T S Q F Q P A S p.800
. . . . . . g.7564
CTGAATGCCTTTAAAGGCCCCTCTGCTGCCTCAGAGACCCCAAAGTCACTGCCATATGCT c.2460
L N A F K G P S A A S E T P K S L P Y A p.820
. . . . . . g.7624
CTGCAGGATCCCTTTGCCTGTGTAGAGGCCCTGCCTGCAGTTCCATGGGTCCCACAGCCC c.2520
L Q D P F A C V E A L P A V P W V P Q P p.840
. . . . . . g.7684
AATATGAATGCCTCAAAGGCATCGCAGGCAGTGCCCACCTTCCTGATGGCTACAGCAGCT c.2580
N M N A S K A S Q A V P T F L M A T A A p.860
. . . . . . g.7744
GCCCCCCAGGCAACTGCCACCACTCAAGAGGCCTCCAAGACCTCCGTCGAGCCGCCACGC c.2640
A P Q A T A T T Q E A S K T S V E P P R p.880
. . . . . . g.7804
CGCTCCGGCAAGGCCACCCGGAAGAAGAAGCATCTGGAAGCCCAAGAGGACAGCCGTGGC c.2700
R S G K A T R K K K H L E A Q E D S R G p.900
. . . . . . g.7864
CACACGCTAGCCTTTCATGACTGGCAGGGCCCAAGGCCCTGGGAGAATCTAAATCTGAGT c.2760
H T L A F H D W Q G P R P W E N L N L S p.920
. . . . . . g.7924
GACTGGGAGGTCCAAAGCCCTATCCAGGTCTCGGGTGACTGGGAGCACCCAAACACCCCC c.2820
D W E V Q S P I Q V S G D W E H P N T P p.940
. . . . . . g.7984
CGTGGCCTGAGTGGTTGGGAGGGCCCTAGCACCTCCAGGATCCTGAGTGGCTGGGAAGGG c.2880
R G L S G W E G P S T S R I L S G W E G p.960
. . . . . . g.8044
CCCAGCGCATCCTGGGCCCTGAGTGCCTGGGAGGGCCCGAGCACCTCCAGGGCCCTGGGT c.2940
P S A S W A L S A W E G P S T S R A L G p.980
. . . . . . g.8104
CTCTCTGAAAGCCCAGGGAGCTCTCTGCCCGTAGTTGTGTCTGAGGTCGCAAGTGTCTCT c.3000
L S E S P G S S L P V V V S E V A S V S p.1000
. . . . . . g.8164
CCGGGATCCAGTGCCACCCAGGATAATTCCAAGGTGGAGGCACAGCCCTTGTCTCCCTTG c.3060
P G S S A T Q D N S K V E A Q P L S P L p.1020
. . . . . . g.8224
GATGAGAGGGCAAATGCGTTGGTGCAGTTCCTCTTAGTCAAGGACCAAGCCAAGGTGCCT c.3120
D E R A N A L V Q F L L V K D Q A K V P p.1040
. . . . . . g.8284
GTCCAGCGCTCGGAGATGGTGAAAGTCATCCTCCGAGAGTATAAAGATGAGTGCTTAGAT c.3180
V Q R S E M V K V I L R E Y K D E C L D p.1060
. . . . . . g.8344
ATCATCAACCGTGCCAACAATAAGCTGGAGTGTGCCTTTGGTTATCAATTGAAAGAAATT c.3240
I I N R A N N K L E C A F G Y Q L K E I p.1080
. . . . . . g.8404
GATACCAAAAACCACGCCTATATTATCATCAACAAGCTGGGCTACCATACAGGGAATTTG c.3300
D T K N H A Y I I I N K L G Y H T G N L p.1100
. . . . . . g.8464
GTGGCATCCTATTTAGACAGGCCCAAGTTTGGCCTTCTGATGGTGGTCTTGAGCCTCATC c.3360
V A S Y L D R P K F G L L M V V L S L I p.1120
. . . . . . g.8524
TTTATGAAAGGCAACTGTGTCAGGGAGGATCTGATCTTTAATTTTCTGTTCAAGTTAGGG c.3420
F M K G N C V R E D L I F N F L F K L G p.1140
. . . . . . g.8584
TTGGATGTCCGGGAGACAAACGGTCTCTTTGGAAATACTAAGAAGCTCATCACCGAAGTG c.3480
L D V R E T N G L F G N T K K L I T E V p.1160
. . . . . . g.8644
TTTGTCAGGCAGAAGTACCTAGAGTACAGGCGAATCCCTTACACTGAGCCCGCAGAGTAT c.3540
F V R Q K Y L E Y R R I P Y T E P A E Y p.1180
. . . . . . g.8704
GAGTTCCTCTGGGGCCCTCGAGCATTCCTGGAAACCAGCAAGATGCTTGTCCTGAGGTTT c.3600
E F L W G P R A F L E T S K M L V L R F p.1200
. . . . . . g.8764
TTGGCCAAGCTCCATAAGAAAGATCCACAGAGCTGGCCATTCCATTACCTTGAAGCGCTC c.3660
L A K L H K K D P Q S W P F H Y L E A L p.1220
. . . . . . g.8824
GCAGAGTGTGAGTGGGAAGACACAGATGAGGATGAACCTGACACCGGTGACAGTGCCCAC c.3720
A E C E W E D T D E D E P D T G D S A H p.1240
. . . g.8854
GGCCCCACCAGCAGGCCCCCTCCCCGCTAA c.3750
G P T S R P P P R X p.1249
. . . . . . g.8914
taggtgtagcagagatctcgctcctgtgtttccctggccagaggccactgacagggtggg c.*60
. . . . . . g.8974
gggacatttttgttcctggtgtttgtgttccagttccacgagtgtacgtttggattttca c.*120
. . . . . . g.9034
acttggtttcgtatctgccaaagctttgtacattttttatgtggtgttgatttcaatcgg c.*180
. . . . . . g.9094
ctactgttctgttctgtattttggcatctgtgtttttaagtgagatctgtggttctctgt c.*240
. . . . . . g.9154
tttgtgttttaattgttatgttttggtatcagctttgtgctggctttgtgaaatgaattg c.*300
. . . . . . g.9214
agaagctatccatctcatttctggtatagttcatgtagcattgtaatcggttgttctttg c.*360
. . . . . . g.9274
aacgttcaaatgactcatcagtaaaaactgtctacagagaagtaaatatctatatctata c.*420
. . g.9298
tatataaatatactttcagcataa c.*444
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 09
©2004-2014 Leiden University Medical Center