(used for variant description)
(last modified April 16, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003550.2 in the MAD1L1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011518.1, covering MAD1L1 transcript NM_003550.2.
(upstream sequence)
g.5003
agt c.-301
. . . . . . g.5063
gtcgcgataaatgggcgccggcggagcggagggagatccgagcggcggcggcaagctggc c.-241
. . | 02 . . . . g.7230
tgcgagcggctgag | gagctgggatacactcttcctctcctctcctcaacagcagcactcc c.-181
. . . . . . g.7290
aagctcgccggcctttggtctccaggacttgtcccagcagcccctcgaactgagaattac c.-121
. . . . . . g.7350
accatcggacccctggctctgaggccttcagacttggactgtgtcacactgccaggcttc c.-61
. . . . . | 03 g.7815
cagggctccaacttgcagacggcctgttgtgggacagtctctgtaatcgc | gaaagcaacc c.-1
. . . . . . g.7875
ATGGAAGACCTGGGGGAAAACACCATGGTTTTATCCACCCTGAGATCTTTGAACAACTTC c.60
M E D L G E N T M V L S T L R S L N N F p.20
. . . . . . g.7935
ATCTCTCAGCGTGTGGAGGGAGGCTCTGGACTGGATATTTCTACCTCGGCCCCAGGTTCT c.120
I S Q R V E G G S G L D I S T S A P G S p.40
. . . | 04 . . . g.12428
CTGCAGATGCAGTACCAGCAGAGCATGCAG | CTGGAGGAAAGAGCAGAGCAGATCCGTTCG c.180
L Q M Q Y Q Q S M Q | L E E R A E Q I R S p.60
. . . . . . g.12488
AAGTCCCACCTCATCCAGGTGGAGCGGGAGAAAATGCAGATGGAGCTGAGTCACAAGAGG c.240
K S H L I Q V E R E K M Q M E L S H K R p.80
. . . . . | 05 . g.15203
GCTCGAGTGGAGCTGGAGAGAGCAGCCAGCACCAGTGCCAGGAACTACGAG | CGTGAGGTC c.300
A R V E L E R A A S T S A R N Y E | R E V p.100
. . . . . . g.15263
GACCGCAACCAGGAGCTCCTGACGCGCATCCGGCAGCTTCAGGAGCGGGAGGCCGGGGCG c.360
D R N Q E L L T R I R Q L Q E R E A G A p.120
. . . . . . g.15323
GAGGAGAAGATGCAGGAGCAGCTGGAGCGCAACAGGCAGTGTCAGCAGAACTTGGATGCT c.420
E E K M Q E Q L E R N R Q C Q Q N L D A p.140
. . . . . | 06 . g.18501
GCCAGCAAGAGGCTGCGTGAGAAAGAGGACAGTCTGGCCCAGGCTGGCGAG | ACCATCAAC c.480
A S K R L R E K E D S L A Q A G E | T I N p.160
. . . . . . g.18561
GCACTGAAGGGGAGGATCTCGGAACTGCAGTGGAGCGTGATGGACCAGGAGATGCGGGTG c.540
A L K G R I S E L Q W S V M D Q E M R V p.180
. . . . . | 07 . g.19909
AAGCGCCTGGAGTCGGAGAAGCAGGAGCTGCAGGAGCAGCTGGACCTGCAACACAA | AAAA c.600
K R L E S E K Q E L Q E Q L D L Q H K | K p.200
. . . . . . g.19969
TGCCAGGAAGCCAATCAGAAAATCCAGGAACTCCAGGCCAGCCAAGAAGCAAGAGCAGAC c.660
C Q E A N Q K I Q E L Q A S Q E A R A D p.220
. | 08 . . . . g.21703
CACGAGCAGCAGATTAAG | GATCTGGAGCAGAAGCTGTCCCTGCAAGAGCAGGATGCAGCG c.720
H E Q Q I K | D L E Q K L S L Q E Q D A A p.240
. . . . . . g.21763
ATTGTGAAGAACATGAAGTCTGAGCTGGTACGGCTCCCTAGGCTGGAACGGGAGCTGAAG c.780
I V K N M K S E L V R L P R L E R E L K p.260
. . | 09 . . . g.21980
CAGCTGCGGGAGGAGAGCGCGCACCTGCG | GGAGATGAGAGAGACCAACGGGCTGCTCCAG c.840
Q L R E E S A H L R | E M R E T N G L L Q p.280
. . . . . . g.22040
GAAGAGCTGGAAGGGCTGCAGAGGAAGCTGGGGCGCCAGGAGAAGATGCAGGAGACGCTG c.900
E E L E G L Q R K L G R Q E K M Q E T L p.300
. . | 10 . . . . g.24711
GTTGGCTTGGAGCTGGAGAACGAG | AGGCTGCTGGCCAAGCTGCAAAGCTGGGAGAGACTG c.960
V G L E L E N E | R L L A K L Q S W E R L p.320
. . | 11 . . . . g.88744
GACCAGACCATGGGCCTGAGCATCAG | GACTCCAGAAGACCTTTCCAGATTCGTGGTTGAG c.1020
D Q T M G L S I R | T P E D L S R F V V E p.340
. . . . . | 12 . g.168617
CTGCAGCAGAGGGAGCTTGCCTTGAAGGACAAGAACAGCGCCGTCACCAGCAG | CGCCCGG c.1080
L Q Q R E L A L K D K N S A V T S S | A R p.360
. . . . . . g.168677
GGGCTGGAGAAGGCCAGGCAGCAGCTGCAGGAGGAGCTCCGGCAGGTCAGCGGCCAGCTG c.1140
G L E K A R Q Q L Q E E L R Q V S G Q L p.380
. . . . . . g.168737
TTGGAGGAGAGGAAGAAGCGCGAGACCCACGAGGCGCTGGCCCGGAGGCTCCAGAAACGG c.1200
L E E R K K R E T H E A L A R R L Q K R p.400
. | 13 . . . . g.223348
GTCCTGCTGCTCACCAAG | GAGCGGGACGGTATGCGGGCCATCCTGGGGTCCTACGACAGC c.1260
V L L L T K | E R D G M R A I L G S Y D S p.420
. . . . . . g.223408
GAGCTGACCCCGGCCGAGTACTCACCCCAGCTGACGCGGCGCATGCGGGAGGCTGAGGAT c.1320
E L T P A E Y S P Q L T R R M R E A E D p.440
. . . | 14 . . g.235848
ATGGTGCAGAAGGTGCACAGCCACAGCGCCGAGATGGAG | GCTCAGCTGTCGCAGGCCCTG c.1380
M V Q K V H S H S A E M E | A Q L S Q A L p.460
. . . | 15 . . . g.257431
GAGGAGCTGGGAGGCCAGAAACAAAGAGCAGACATG | CTGGAGATGGAGCTGAAGATGCTG c.1440
E E L G G Q K Q R A D M | L E M E L K M L p.480
. . . . . . g.257491
AAGTCTCAGTCCAGCTCTGCCGAACAGAGCTTCCTGTTCTCCAGGGAGGAGGCGGACACG c.1500
K S Q S S S A E Q S F L F S R E E A D T p.500
| 16 . . . . . . g.280284
CTCAG | GTTGAAGGTCGAGGAGCTGGAAGGCGAGCGGAGTCGGCTGGAGGAGGAAAAGAGG c.1560
L R | L K V E E L E G E R S R L E E E K R p.520
. . . | 17 . . . g.301074
ATGCTGGAGGCACAGCTGGAGCGGCGAGCTCTGCAG | GGTGACTATGACCAGAGCAGGACC c.1620
M L E A Q L E R R A L Q | G D Y D Q S R T p.540
. . . . . . g.301134
AAAGTGCTGCACATGAGCCTGAACCCCACCAGTGTGGCCAGGCAGCGCCTGCGCGAGGAC c.1680
K V L H M S L N P T S V A R Q R L R E D p.560
. . . . . . g.301194
CACAGCCAGCTGCAGGCGGAGTGCGAGCGACTGCGCGGGCTCCTGCGCGCCATGGAGAGA c.1740
H S Q L Q A E C E R L R G L L R A M E R p.580
. . . . . . g.301254
GGAGGCACCGTCCCAGCCGACCTTGAGGCTGCCGCCGCGAGTCTGCCATCGTCCAAGGAG c.1800
G G T V P A D L E A A A A S L P S S K E p.600
| 18. . . . . . g.339610
GTGGCAG | AGCTGAAGAAGCAGGTGGAGAGTGCCGAGCTGAAGAACCAGCGGCTCAAGGAG c.1860
V A E | L K K Q V E S A E L K N Q R L K E p.620
. . . . . . g.339670
GTTTTCCAGACCAAGATCCAGGAGTTCCGCAAGGCCTGCTACACGCTCACCGGCTACCAG c.1920
V F Q T K I Q E F R K A C Y T L T G Y Q p.640
. . . . . . g.339730
ATCGACATCACCACGGAGAACCAGTACCGGCTGACCTCGCTGTACGCCGAGCACCCAGGC c.1980
I D I T T E N Q Y R L T S L Y A E H P G p.660
. | 19 . . . . g.421761
GACTGCCTCATCTTCAAG | GCCACCAGCCCCTCGGGTTCCAAGATGCAGCTACTGGAGACA c.2040
D C L I F K | A T S P S G S K M Q L L E T p.680
. . . . . . g.421821
GAGTTCTCACACACCGTGGGCGAGCTCATCGAGGTGCACCTGCGGCGCCAGGACAGCATC c.2100
E F S H T V G E L I E V H L R R Q D S I p.700
. . . . . g.421878
CCTGCCTTCCTCAGCTCGCTCACCCTCGAGCTCTTCAGCCGCCAGACCGTGGCGTAG c.2157
P A F L S S L T L E L F S R Q T V A X p.718
. . . . . . g.421938
cctgcaggctcgggggcatagccggagccactctgcttggcctgacctgcaggtcccctg c.*60
. . . . . . g.421998
ccccgccagccacaggctgggtgcacgtcctgcctctccagccccacagggcagcagcat c.*120
. . . . . . g.422058
gactgacagacacgctgggacctacgtcgggcttcctgctggggcggccagcaccctctc c.*180
. . . . . . g.422118
cacgtgcagaccccatgcgtcccggagcctggtgtgtgggcgtcggccaccagcctgggt c.*240
. . . g.422156
tcctcaccttgtgaaataaaatcttctcccctagacac c.*278
(downstream sequence)
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