(used for variant description)
(last modified February 17, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_014599.4 in the MAGED2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012844.1, covering MAGED2 transcript NM_014599.4.
(upstream sequence)
. . . g.5665
ggagggcagtctccgagtttcggaggggcttggagtgag c.-61
. . . . | 02 . . g.6594
tggacgcactcgggaattgtaggaggacgag | gctcagctcttgccaggccaaattgagac c.-1
. . . . | 03 . . g.6999
ATGTCTGACACAAGCGAGAGTGGTGCAGGTCTAACTCGCTTCCAG | GCTGAAGCTTCAGAA c.60
M S D T S E S G A G L T R F Q | A E A S E p.20
. . . . . . g.7059
AAGGACAGTAGCTCGATGATGCAGACTCTGTTGACAGTGACCCAGAATGTGGAGGTCCCA c.120
K D S S S M M Q T L L T V T Q N V E V P p.40
. . . . . . g.7119
GAGACACCGAAGGCCTCAAAGGCACTGGAGGTCTCAGAGGATGTGAAGGTCTCAAAAGCC c.180
E T P K A S K A L E V S E D V K V S K A p.60
. . . . . . g.7179
TCTGGGGTCTCAAAGGCCACAGAGGTCTCAAAGACCCCAGAGGCTCGGGAGGCACCTGCC c.240
S G V S K A T E V S K T P E A R E A P A p.80
. . . . . . g.7239
ACCCAGGCCTCATCTACTACTCAGCTGACTGATACCCAGGTTCTGGCAGCTGAAAACAAG c.300
T Q A S S T T Q L T D T Q V L A A E N K p.100
. . . . . . g.7299
AGTCTAGCAGCTGACACCAAGAAACAGAATGCTGACCCGCAGGCTGTGACAATGCCTGCC c.360
S L A A D T K K Q N A D P Q A V T M P A p.120
. . . . . . g.7359
ACTGAGACCAAAAAGGTCAGCCATGTGGCTGATACAAAGGTCAATACAAAGGCTCAGGAG c.420
T E T K K V S H V A D T K V N T K A Q E p.140
. . . . . . g.7419
ACTGAGGCTGCACCCTCTCAGGCCCCAGCAGATGAACCTGAGCCTGAGAGTGCAGCTGCC c.480
T E A A P S Q A P A D E P E P E S A A A p.160
. . . . . | 04. g.8086
CAGTCTCAGGAGAATCAGGATACTCGGCCCAAGGTCAAAGCCAAGAAAGCCCGAAAG | GTG c.540
Q S Q E N Q D T R P K V K A K K A R K | V p.180
. . . . . . g.8146
AAGCATCTGGATGGGGAAGAGGATGGCAGCAGTGATCAGAGTCAGGCTTCTGGAACCACA c.600
K H L D G E E D G S S D Q S Q A S G T T p.200
. . . . . . g.8206
GGTGGCCGAAGGGTCTCAAAGGCCCTAATGGCCTCAATGGCCCGCAGGGCTTCAAGGGGT c.660
G G R R V S K A L M A S M A R R A S R G p.220
. . . . . . g.8266
CCCATAGCCTTTTGGGCCCGCAGGGCATCAAGGACTCGGTTGGCTGCTTGGGCCCGGAGA c.720
P I A F W A R R A S R T R L A A W A R R p.240
. . . . . . g.8326
GCCTTGCTCTCCCTGAGATCACCTAAAGCCCGTAGGGGCAAGGCTCGCCGTAGAGCTGCC c.780
A L L S L R S P K A R R G K A R R R A A p.260
. . . . . . g.8386
AAGCTCCAGTCATCCCAAGAGCCTGAAGCACCACCACCTCGGGATGTGGCCCTTTTGCAA c.840
K L Q S S Q E P E A P P P R D V A L L Q p.280
| 05 . . . . . . g.8566
GGGAGG | GCAAATGATTTGGTGAAGTACCTTTTGGCTAAAGACCAGACGAAGATTCCCATC c.900
G R | A N D L V K Y L L A K D Q T K I P I p.300
. | 06 . . . . . g.8886
AAGCGCTCGG | ACATGCTGAAGGACATCATCAAAGAATACACTGATGTGTACCCCGAAATC c.960
K R S D | M L K D I I K E Y T D V Y P E I p.320
. . . | 07 . . . g.9449
ATTGAACGAGCAGGCTATTCCTTGGAGAAG | GTATTTGGGATTCAATTGAAGGAAATTGAT c.1020
I E R A G Y S L E K | V F G I Q L K E I D p.340
. . . . . . g.9509
AAGAATGACCACTTGTACATTCTTCTCAGCACCTTAGAGCCCACTGATGCAGGCATACTG c.1080
K N D H L Y I L L S T L E P T D A G I L p.360
| 08 . . . . . . g.10262
GGAAC | GACTAAGGACTCACCCAAGCTGGGTCTGCTCATGGTGCTTCTTAGCATCATCTTC c.1140
G T | T K D S P K L G L L M V L L S I I F p.380
. . | 09 . . . . g.10415
ATGAATGGAAATCGGTCCAGTGAGG | CTGTCATCTGGGAGGTGCTGCGCAAGTTGGGGCTG c.1200
M N G N R S S E A | V I W E V L R K L G L p.400
| 10 . . . . . g.10802
CGCCCTGG | GATACATCATTCACTCTTTGGGGACGTGAAGAAGCTCATCACTGATGAGTTT c.1260
R P G | I H H S L F G D V K K L I T D E F p.420
. | 11 . . . . . g.11972
GTGAAGCAGAA | GTACCTGGACTATGCCAGAGTCCCCAATAGCAATCCCCCTGAATATGAG c.1320
V K Q K | Y L D Y A R V P N S N P P E Y E p.440
. . . . . . g.12032
TTCTTCTGGGGCCTGCGCTCTTACTATGAGACCAGCAAGATGAAAGTCCTCAAGTTTGCC c.1380
F F W G L R S Y Y E T S K M K V L K F A p.460
| 12 . . . . . . g.12564
TGCAAG | GTACAAAAGAAGGATCCCAAGGAATGGGCAGCTCAGTACCGAGAGGCGATGGAA c.1440
C K | V Q K K D P K E W A A Q Y R E A M E p.480
. . . . . . g.12624
GCGGATTTGAAGGCTGCAGCTGAGGCTGCAGCTGAAGCCAAGGCTAGGGCCGAGATTAGA c.1500
A D L K A A A E A A A E A K A R A E I R p.500
. . . . . . g.12684
GCTCGAATGGGCATTGGGCTCGGCTCGGAGAATGCTGCCGGGCCCTGCAACTGGGACGAA c.1560
A R M G I G L G S E N A A G P C N W D E p.520
. . . . . . g.12744
GCTGATATCGGACCCTGGGCCAAAGCCCGGATCCAGGCGGGAGCAGAAGCTAAAGCCAAA c.1620
A D I G P W A K A R I Q A G A E A K A K p.540
. . . . . . g.12804
GCCCAAGAGAGTGGCAGTGCCAGCACTGGTGCCAGTACCAGTACCAATAACAGTGCCAGT c.1680
A Q E S G S A S T G A S T S T N N S A S p.560
. . . . . . g.12864
GCCAGTGCCAGCACCAGTGGTGGCTTCAGTGCTGGTGCCAGCCTGACCGCCACTCTCACA c.1740
A S A S T S G G F S A G A S L T A T L T p.580
. . . . . . g.12924
TTTGGGCTCTTCGCTGGCCTTGGTGGAGCTGGTGCCAGCACCAGTGGCAGCTCTGGTGCC c.1800
F G L F A G L G G A G A S T S G S S G A p.600
. . g.12945
TGTGGTTTCTCCTACAAGTGA | c.1822
C G F S Y K X p.606
| 13 . . . . . g.13195
gattttag | atattgttaatcctgccagtctttctcttcaagccagggtgcatcctcagaa c.*60
. . . . . . g.13255
acctactcaacacagcactctaggcagccactatcaatcaattgaagttgacactctgca c.*120
. . g.13275
ttaaatctatttgccatttc c.*140
(downstream sequence)
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