(used for variant description)
(last modified February 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005911.5 in the MAT2A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029183.1, covering MAT2A transcript NM_005911.5.
(upstream sequence)
. g.5010
ggccggattg c.-301
. . . . . . g.5070
ccacggcacctcccgcggccgcgcagtgtggttcagcccggactccgcggggcgagctgc c.-241
. . . . . . g.5130
ccttcctcccccgacccccgcgcaagtggtgcattggcgcgcggcgccgaggggcggggc c.-181
. . . . . . g.5190
ccgagccgggcgcgcgcgggcgctgctctataaataccgggccgcaccgcccgctgcttc c.-121
. . . . . . g.5250
gttcgctccgcgccgcccgcctgctacgagtagaacgctgtccgcagcttgcgcatttcg c.-61
. . . . . . g.5310
cagccgctgccgcctcgccgctgctccttcgtaaggccacttccgcacaccgacaccaac c.-1
. . . . . . g.5370
ATGAACGGACAGCTCAACGGCTTCCACGAGGCGTTCATCGAGGAGGGCACATTCCTTTTC c.60
M N G Q L N G F H E A F I E E G T F L F p.20
. . . | 02 . . . g.7134
ACCTCAGAGTCGGTCGGGGAAGGCCACCCAG | ATAAGATTTGTGACCAAATCAGTGATGCT c.120
T S E S V G E G H P D | K I C D Q I S D A p.40
. . . . | 03 . g.7288
GTCCTTGATGCCCACCTTCAGCAGGATCCTGATGCCAAAGTAGCTTGTG | AAACTGTTGCT c.180
V L D A H L Q Q D P D A K V A C E | T V A p.60
. . . . . . g.7348
AAAACTGGAATGATCCTTCTTGCTGGGGAAATTACATCCAGAGCTGCTGTTGACTACCAG c.240
K T G M I L L A G E I T S R A A V D Y Q p.80
. . . . . | 04 . g.7663
AAAGTGGTTCGTGAAGCTGTTAAACACATTGGATATGATGATTCTTCCAAAG | GTTTTGAC c.300
K V V R E A V K H I G Y D D S S K G | F D p.100
. . . . . . g.7723
TACAAGACTTGTAACGTGCTGGTAGCCTTGGAGCAACAGTCACCAGATATTGCTCAAGGT c.360
Y K T C N V L V A L E Q Q S P D I A Q G p.120
. . . . | 05 . . g.7866
GTTCATCTTGACAGAAATGAAGAAGACATTGGTGCTGGAGACCAG | GGCTTAATGTTTGGC c.420
V H L D R N E E D I G A G D Q | G L M F G p.140
. . . . . . g.7926
TATGCCACTGATGAAACTGAGGAGTGTATGCCTTTAACCATTGTCTTGGCACACAAGCTA c.480
Y A T D E T E E C M P L T I V L A H K L p.160
. . . . . . g.7986
AATGCCAAACTGGCAGAACTACGCCGTAATGGCACTTTGCCTTGGTTACGCCCTGATTCT c.540
N A K L A E L R R N G T L P W L R P D S p.180
| 06 . . . . . g.8228
AAAACTCAA | GTTACTGTGCAGTATATGCAGGATCGAGGTGCTGTGCTTCCCATCAGAGTC c.600
K T Q | V T V Q Y M Q D R G A V L P I R V p.200
. . . . . . g.8288
CACACAATTGTTATATCTGTTCAGCATGATGAAGAGGTTTGTCTTGATGAAATGAGGGAT c.660
H T I V I S V Q H D E E V C L D E M R D p.220
. . . . . . g.8348
GCCCTAAAGGAGAAAGTCATCAAAGCAGTTGTGCCTGCGAAATACCTTGATGAGGATACA c.720
A L K E K V I K A V V P A K Y L D E D T p.240
. . . . | 07 . g.8599
ATCTACCACCTACAGCCAAGTGGCAGATTTGTTATTGGTGGGCCTCAG | GGTGATGCTGGT c.780
I Y H L Q P S G R F V I G G P Q | G D A G p.260
. . . . . . g.8659
TTGACTGGACGCAAAATCATTGTGGACACTTATGGCGGTTGGGGTGCTCATGGAGGAGGT c.840
L T G R K I I V D T Y G G W G A H G G G p.280
. . . . . . g.8719
GCCTTTTCAGGAAAGGATTATACCAAGGTCGACCGTTCAGCTGCTTATGCTGCTCGTTGG c.900
A F S G K D Y T K V D R S A A Y A A R W p.300
. . . . . | 08 . g.8932
GTGGCAAAATCCCTTGTTAAAGGAGGTCTGTGCCGGAGGGTTCTTGTTCAG | GTCTCTTAT c.960
V A K S L V K G G L C R R V L V Q | V S Y p.320
. . . . . . g.8992
GCTATTGGAGTTTCTCATCCATTATCTATCTCCATTTTCCATTATGGTACCTCTCAGAAG c.1020
A I G V S H P L S I S I F H Y G T S Q K p.340
. . . . . . g.9052
AGTGAGAGAGAGCTATTAGAGATTGTGAAGAAGAATTTCGATCTCCGCCCTGGGGTCATT c.1080
S E R E L L E I V K K N F D L R P G V I p.360
| 09 . . . . . . g.9747
GTCAG | GGATCTGGATCTGAAGAAGCCAATTTATCAGAGGACTGCAGCCTATGGCCACTTT c.1140
V R | D L D L K K P I Y Q R T A A Y G H F p.380
. . . . g.9795
GGTAGGGACAGCTTCCCATGGGAAGTGCCCAAAAAGCTTAAATATTGA c.1188
G R D S F P W E V P K K L K Y X p.395
. . . . . . g.9855
aagtgttagccttttttccccagacttgttggcgtaggctacagagaagccttcaagctc c.*60
. . . . . . g.9915
tgagggaaagggccctccttcctaaattttcctgtcctctttcagctcctgaccagttgc c.*120
. . . . . . g.9975
agtcactctagtcaatgacatgaattttagcttttgtgggggactgtaagttgggcttgc c.*180
. . . . . . g.10035
tattctgtccctaggtgttttgttcaccattataatgaatttagtgagcataggtgatcc c.*240
. . . . . . g.10095
atgtaactgcctagaaacaacactgtagtaaataatgctttgaaattgaacctttgtgcc c.*300
. . . . . . g.10155
ctatcacccaacgctccaaagtcataattgcattgactttccccaccagatgctgaaaat c.*360
. . . . . . g.10215
gtccttgtgatgtgcacgtaaagtacttgtagttccacttatagcctctgtctggcaatg c.*420
. . . . . . g.10275
ccacagccctgtcagcatgaatttgtaatgtcttgagctctattatgaatgtgaagcctt c.*480
. . . . . . g.10335
ccccttatcctccctgtaacttgatccatttctaattatgtagctctttgtcagggagtg c.*540
. . . . . . g.10395
ttccctatccaatcaatcttgcatgtaacgcaagttcccagttggagctccagcctgaca c.*600
. . . . . . g.10455
tcaaaaaaggcagttaccattaaaccatctccctggtgcttatgctcttaattgccacct c.*660
. . . . . . g.10515
ctaacagcaccaaatcaaaatctctccactttcagctgtcttttggaggacgtacgtaat c.*720
. . . . . . g.10575
aaggttttaatttagtaaaccaatcctatgcatggtttcagcactagccaaacctcacca c.*780
. . . . . . g.10635
actcctagttctagaaaaacaggcacttggcagccttgtgatgtcatacagagaagtcac c.*840
. . . . . . g.10695
agggcagtacctgagggtctgtaggttgcacactttggtaccagataacttttttttttc c.*900
. . . . . . g.10755
tttataagaaagcctgagtactccacactgcacaataactcctcccagggttttaacttt c.*960
. . . . . . g.10815
gttttattttcaaaaccaggtccaatgagctttctgaacagctggtgtagctacagagaa c.*1020
. . . . . . g.10875
accagcttccttcagagagcagtgcttttggcggggaggaggaaatcccttcatacttga c.*1080
. . . . . . g.10935
acgttttctaattgcttatttattgtattctggggtatggcgtaagtacagagaagccat c.*1140
. . . . . . g.10995
cacctcagatggcagcttttaaaagattttttttttttctctcaacaccatgattccttt c.*1200
. . . . . . g.11055
aacaacatgtttccagcattcccaggtaggccaaggtgtcctacagaaaaaccttgggtt c.*1260
. . . . . . g.11115
agacctacagggggtctggctggtgttaacagaagggagggcagagctggtgcggctggc c.*1320
. . . . . . g.11175
catggagaaagctgacttggctggtgtggtacagagaagccagcttgtttacatgcttat c.*1380
. . . . . . g.11235
tccatgactgcttgccctaagcagaaagtgcctttcaggatctatttttggaggtttatt c.*1440
. . . . . . g.11295
acgtatgtctggttctcaattccaacagtttaatgaagatctaaataaaatgctaggttc c.*1500
g.11303
taccttaa c.*1508
(downstream sequence)
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