(used for variant description)
(last modified October 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005360.4 in the MAF gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016440.1, covering MAF transcript NM_005360.4.
(upstream sequence)
. . . . g.5043
gaggctttaaaatcttttttcatcttctagctgtagctcgggc c.-781
. . . . . . g.5103
tgcttgtcggcttggcctccccctcccccctttgctctctgcctcgtctttccccaggac c.-721
. . . . . . g.5163
ttcgctattttgcttttttaaaaaaaggcaagaaagaactaaactcccccctccctctcc c.-661
. . . . . . g.5223
tccagtcgggctgcacctctgccttgcactttgcacagaggtagagagcgcgcgagggag c.-601
. . . . . . g.5283
agagaggaaagaaaaaaaataataaagagagccaagcagaagaggaggcgagaagcatga c.-541
. . . . . . g.5343
agtgttaactcccccgtgccaaggcccgcgccgcccggacagacgcccgccgcgcctcca c.-481
. . . . . . g.5403
gccccgagcggacgccgcgcgcgccctgcctgcagcccgggccggcgaggcgagcccttc c.-421
. . . . . . g.5463
cttatgcaaagcgcgcagcggagcggcgagcgggggacgccgcgcaccgggccgggctcc c.-361
. . . . . . g.5523
tccagcttcgccgccgcagccaccaccgccgccaccgcagctcgcggaggatcttcccga c.-301
. . . . . . g.5583
gcctgaagccgccggctcggcgcgcaaggaggcgagcgagcaaggaggggccggggcgag c.-241
. . . . . . g.5643
cgagggagcacattggcgtgagcaggggggagggagggcgggcgcggggggcgcgggcag c.-181
. . . . . . g.5703
ggcgggggggtgtgtgtgtgagcgcgctcggaggtttcgggccagccaccgccgcgcaag c.-121
. . . . . . g.5763
ctagaagcgccccagcccggcaagctggctcacccgctggccacccagcacagcccgctg c.-61
. . . . . . g.5823
gcccctctcctgcagcccatctggcggagcggcggcggcggcggcggcggcggcaggaga c.-1
. . . . . . g.5883
ATGGCATCAGAACTGGCAATGAGCAACTCCGACCTGCCCACCAGTCCCCTGGCCATGGAA c.60
M A S E L A M S N S D L P T S P L A M E p.20
. . . . . . g.5943
TATGTTAATGACTTCGATCTGATGAAGTTTGAAGTGAAAAAGGAACCGGTGGAGACCGAC c.120
Y V N D F D L M K F E V K K E P V E T D p.40
. . . . . . g.6003
CGCATCATCAGCCAGTGCGGCCGTCTCATCGCCGGGGGCTCGCTGTCCTCCACCCCCATG c.180
R I I S Q C G R L I A G G S L S S T P M p.60
. . . . . . g.6063
AGCACGCCGTGCAGCTCGGTGCCCCCTTCCCCCAGCTTCTCGGCGCCCAGCCCGGGCTCG c.240
S T P C S S V P P S P S F S A P S P G S p.80
. . . . . . g.6123
GGCAGCGAGCAGAAGGCGCACCTGGAAGACTACTACTGGATGACCGGCTACCCGCAGCAG c.300
G S E Q K A H L E D Y Y W M T G Y P Q Q p.100
. . . . . . g.6183
CTGAACCCCGAGGCGCTGGGCTTCAGCCCCGAGGACGCGGTCGAGGCGCTCATCAGCAAC c.360
L N P E A L G F S P E D A V E A L I S N p.120
. . . . . . g.6243
AGCCACCAGCTCCAGGGCGGCTTCGATGGCTACGCGCGCGGGGCGCAGCAGCTGGCCGCG c.420
S H Q L Q G G F D G Y A R G A Q Q L A A p.140
. . . . . . g.6303
GCGGCCGGGGCCGGTGCCGGCGCCTCCTTGGGCGGCAGCGGCGAGGAGATGGGCCCCGCC c.480
A A G A G A G A S L G G S G E E M G P A p.160
. . . . . . g.6363
GCCGCCGTGGTGTCCGCCGTGATCGCCGCGGCCGCCGCGCAGAGCGGCGCGGGCCCGCAC c.540
A A V V S A V I A A A A A Q S G A G P H p.180
. . . . . . g.6423
TACCACCACCACCACCACCACGCCGCCGGCCACCACCACCACCCGACGGCCGGCGCGCCC c.600
Y H H H H H H A A G H H H H P T A G A P p.200
. . . . . . g.6483
GGCGCCGCGGGCAGCGCGGCCGCCTCGGCCGGTGGCGCTGGGGGCGCGGGCGGCGGTGGC c.660
G A A G S A A A S A G G A G G A G G G G p.220
. . . . . . g.6543
CCGGCCAGCGCTGGGGGCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGGGGCGCGGCG c.720
P A S A G G G G G G G G G G G G G G A A p.240
. . . . . . g.6603
GGGGCGGGGGGCGCCCTGCACCCGCACCACGCCGCCGGCGGCCTGCACTTCGACGACCGC c.780
G A G G A L H P H H A A G G L H F D D R p.260
. . . . . . g.6663
TTCTCCGACGAGCAGCTGGTGACCATGTCTGTGCGCGAGCTGAACCGGCAGCTGCGCGGG c.840
F S D E Q L V T M S V R E L N R Q L R G p.280
. . . . . . g.6723
GTCAGCAAGGAGGAGGTGATCCGGCTGAAGCAGAAGAGGCGGACCCTGAAAAACCGCGGC c.900
V S K E E V I R L K Q K R R T L K N R G p.300
. . . . . . g.6783
TATGCCCAGTCCTGCCGCTTCAAGAGGGTGCAGCAGAGACACGTCCTGGAGTCGGAGAAG c.960
Y A Q S C R F K R V Q Q R H V L E S E K p.320
. . . . . . g.6843
AACCAGCTGCTGCAGCAAGTCGACCACCTCAAGCAGGAGATCTCCAGGCTGGTGCGCGAG c.1020
N Q L L Q Q V D H L K Q E I S R L V R E p.340
. . . . . . g.6903
AGGGACGCGTACAAGGAGAAATACGAGAAGTTGGTGAGCAGCGGCTTCCGAGAAAACGGC c.1080
R D A Y K E K Y E K L V S S G F R E N G p.360
. . . | 02 . . g.11194
TCGAGCAGCGACAACCCGTCCTCTCCCGAGTTTTTCAT | AACTGAGCCCACTCGCAAGTTG c.1140
S S S D N P S S P E F F I | T E P T R K L p.380
. . . . . . g.11254
GAGCCATCAGTGGGATACGCCACATTTTGGAAGCCCCAGCATCGTGTACTTACCAGTGTG c.1200
E P S V G Y A T F W K P Q H R V L T S V p.400
. g.11266
TTCACAAAATGA c.1212
F T K X p.403
. . . . . . g.11326
aatttgtgtgagagctgtacattaaaaaaaatcatcattattattattatttgcagtcat c.*60
. . . . . . g.11386
ggagaaccacctacccctgacttctgtttagtctcctttttaaataaaaattactgtgtt c.*120
. . . . . . g.11446
agagaagaaggctattaaatgtagtagttaactatgcctcttgtctgggggtttcataga c.*180
. . . . . . g.11506
gaccggtaggaaagcgcactcctgcttttcgatttatggtgtgtgcaagtaaacaggtgc c.*240
. . . . . . g.11566
attgctttcaacctgccatactagttttaaaaattcactgaaattacaaagatacatata c.*300
. . . . . . g.11626
tatgcatatatataatggaaagtttcccggaatgcaacaattagcattttaaaatcatat c.*360
. . . . . . g.11686
ataggcatgcacattctaaatagtactttttcatgcttcattgtttctctggcagataat c.*420
. . . . . . g.11746
tttactaagaagaaaaatagatattcgactccccttccctaaacaaatccacgggcagag c.*480
. . . . . . g.11806
gctccagcggagccgagccccctggttttctcgtaggccctagacggtgttgcatttatc c.*540
. . . . . . g.11866
agtgatgtcaaacgtgctcatttgtcagacatagctgtaaatgaaaacaatgtgtggcaa c.*600
. g.11878
aatacaaagtta c.*612
(downstream sequence)
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