(used for variant description)
(last modified November 25, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_002382.4 in the MAX gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029830.1, covering MAX transcript NM_002382.4.
(upstream sequence)
. . g.5176
tgcgtgccgccgttgatccggtgct c.-181
. . . . . . g.5236
gcagtgaggaggtggttcttgcccgtgttgtgtgtgtgtgtgagtgagagagcgagtgag c.-121
. . . . . . g.5296
tgagtgagtgagtgtgtgtgtgggggggactcggcttgttgttgtcggtgacttccccct c.-61
. . . . . . g.5356
ccccttcaccccttcccctccccgccgccgctgcagtggccgctccctgggccgtaggaa c.-1
. . . | 02 . . . g.6147
ATGAGCGATAACGATGACATCGAGGTGGAGAGCGAC | GAAGAGCAACCGAGGTTTCAATCT c.60
M S D N D D I E V E S D | E E Q P R F Q S p.20
| 03 . . . . . . g.13937
GCG | GCTGACAAACGGGCTCATCATAATGCACTGGAACGAAAACGTAGGGACCACATCAAA c.120
A | A D K R A H H N A L E R K R R D H I K p.40
. . . . . | 04 . g.29668
GACAGCTTTCACAGTTTGCGGGACTCAGTCCCATCACTCCAAGGAGAGAAG | GCATCCCGG c.180
D S F H S L R D S V P S L Q G E K | A S R p.60
. . . . . . g.29728
GCCCAAATCCTAGACAAAGCCACAGAATATATCCAGTATATGCGAAGGAAAAACCACACA c.240
A Q I L D K A T E Y I Q Y M R R K N H T p.80
. . . . . | 05 . g.31037
CACCAGCAAGATATTGACGACCTCAAGCGGCAGAATGCTCTTCTGGAGCAGCAAG | TCCGT c.300
H Q Q D I D D L K R Q N A L L E Q Q V | R p.100
. . . . . . g.31097
GCACTGGAGAAGGCGAGGTCAAGTGCCCAACTGCAGACCAACTACCCCTCCTCAGACAAC c.360
A L E K A R S S A Q L Q T N Y P S S D N p.120
. . . . . . g.31157
AGCCTCTACACCAACGCCAAGGGCAGCACCATCTCTGCCTTCGATGGGGGCTCGGACTCC c.420
S L Y T N A K G S T I S A F D G G S D S p.140
. . . . . . g.31217
AGCTCGGAGTCTGAGCCTGAAGAGCCCCAAAGCAGGAAGAAGCTCCGGATGGAGGCCAGC c.480
S S E S E P E E P Q S R K K L R M E A S p.160
g.31220
TAA c.483
X p.160
. . . . . . g.31280
gccactcggggcaggccagcaataaaaactgtctgtctccatcgtctcatcctcctttca c.*60
. . . . . . g.31340
gttcgttggtagagccctcagaaccatttaagagactctttatttttctctttctccctt c.*120
. . . . . . g.31400
ttttttttaaatttttatttttacgtagaagctcttggacaacagctctcgttctccttc c.*180
. . . . . . g.31460
cccatttccactgtatattttttaatgtattcccttcagggattccctgtccccaacagg c.*240
. . . . . . g.31520
aatttttaaaccaaaacaccccaacttggcagctttttctgtggaggacagacggccggc c.*300
. . . . . . g.31580
cggacctctgagcacatagtgtcctgcccaccctaccagctcctccagccctgccgggca c.*360
. . . . . . g.31640
catgcccgggggacgcctgccctgcccaggtggcctcctggcccgccctcacctctgata c.*420
. . . . . . g.31700
gactttgtgaatctgaactgctctactttgagaagatgaccggtttggagtaatcagaat c.*480
. . . . . . g.31760
gaaccctcctcctttttaagggttttttttttttcctttttctaaaaagctatgtatcgc c.*540
. . . . . . g.31820
tcctattgaaagaccagatccttagagaagtttgtggtataaaaaggaagtggggacaga c.*600
. . . . . . g.31880
ttcgcagcacagagtcgctggcatgtttcactcctgcttctctcagccagctgtttaagc c.*660
. . . . . . g.31940
ctgcggcgccagcctcacggagggccgtgtgacactctcgtggtatgtatgggagatggc c.*720
. . . . . . g.32000
agcagtgaagcagcagccaccagggagtggccatttggggttgggacagggagggtgttt c.*780
. . . . . . g.32060
tgggtggcatagaggttttgtattgagggccagtgatgatgttttgatatttatttcctg c.*840
. . . . . . g.32120
ctacttaaatttgaatctgagtgaattgtacctatttctgatgatgtcggtcttgcaaag c.*900
. . . . . . g.32180
cgacagattcataaagtaatgatgaaatctttctttcttcccgtgtgtatttctaagaaa c.*960
. . . . . . g.32240
tagagccaactgattttgtatgtaaataccaagagcaatttacctggtactaaacccgca c.*1020
. . . . . . g.32300
ccccagtgcggacccttcccagccctcatcccacttcctttcctactgtcctggaacctg c.*1080
. . . . . . g.32360
tctccattgtgtgatccagccctggttctggctgtggtcagcagatgccagtgaagggtt c.*1140
. . . . . . g.32420
ttgtgtgtttaggcctcatttctttgtctttttcctactccgttcctggcatttgctgat c.*1200
. . . . . . g.32480
ttctagtgtatactctgtagtctcagttcgtgtttgattccattccatggaaataaaaag c.*1260
. . . . . . g.32540
tatgttgtacatactgccgaagaattgtcttgcaagttaaggcttccccctttactataa c.*1320
. . . g.32572
gactataaataaaaacttattttatccttctt c.*1352
(downstream sequence)
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