(used for variant description)
(last modified April 20, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_016228.3 in the AADAT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering AADAT transcript NM_016228.3.
(upstream sequence)
. . . . g.5231
aggccacggcgcggggcgggagggggcgcggcgaggcccgcg c.-301
. . . . . . g.5291
gcggggcaaaaccggcctgggccctggcggccgcaggagcgcgtgcggcgtggactttgc c.-241
. . . . . . g.5351
cgggctcgccacacagccccagacccgtttaggaccgggagaccgaacgcagcgtccagc c.-181
. . . . . . g.5411
cggggagtttcggcggcgttctccgggcaccgcgcgcgggaagccagacgcagcgggggg c.-121
. . . . . . g.5471
acacatctcgcggtggcgttgccagagtgaggagttagcaggcaggacttgacgaggctc c.-61
. . . . . . g.5531
tttggtttttctagtcctcaaccactgaagaagaagcttgatgcttggctgtcagaagac c.-1
. . . . . . g.5591
ATGAATTACGCACGGTTCATCACGGCAGCGAGCGCAGCCAGAAACCCTTCTCCCATCCGG c.60
M N Y A R F I T A A S A A R N P S P I R p.20
| 02. . . . . . g.6710
ACCATGA | CTGACATATTGAGCAGAGGACCAAAATCGATGATCTCCTTGGCTGGTGGCTTA c.120
T M T | D I L S R G P K S M I S L A G G L p.40
. . . . . . g.6770
CCAAATCCAAACATGTTTCCTTTTAAGACTGCCGTAATCACTGTAGAAAATGGAAAGACC c.180
P N P N M F P F K T A V I T V E N G K T p.60
. . . . . | 03 . g.7977
ATCCAATTTGGAGAAGAGATGATGAAGAGAGCACTTCAGTATTCTCCGAGTGCTGG | AATT c.240
I Q F G E E M M K R A L Q Y S P S A G | I p.80
. . . . . . g.8037
CCAGAGCTTTTGTCCTGGCTAAAACAGTTACAAATAAAATTGCATAATCCTCCTACCATC c.300
P E L L S W L K Q L Q I K L H N P P T I p.100
. . . . . . g.8097
CATTACCCACCCAGTCAAGGACAAATGGATCTATGTGTCACATCTGGCAGCCAACAAGGT c.360
H Y P P S Q G Q M D L C V T S G S Q Q G p.120
| 04 . . . . . g.16689
CTTTGTAAG | GTGTTTGAAATGATCATTAATCCTGGAGATAATGTCCTCCTAGATGAACCT c.420
L C K | V F E M I I N P G D N V L L D E P p.140
. . | 05 . . . . g.21912
GCTTATTCAGGAACTCTTCAAAGT | CTGCACCCACTGGGCTGCAACATTATTAATGTTGCC c.480
A Y S G T L Q S | L H P L G C N I I N V A p.160
. . . . . . g.21972
AGTGATGAAAGTGGGATTGTTCCAGATTCCCTAAGAGACATACTTTCCAGATGGAAACCA c.540
S D E S G I V P D S L R D I L S R W K P p.180
. . . . . . g.22032
GAAGATGCAAAGAATCCCCAGAAAAACACCCCCAAATTTCTTTATACTGTTCCAAATGGC c.600
E D A K N P Q K N T P K F L Y T V P N G p.200
. . . . . | 06 . g.24575
AACAACCCTACTGGAAACTCATTAACCAGTGAACGCAAAAAGGAAATCTATGAG | CTTGCA c.660
N N P T G N S L T S E R K K E I Y E | L A p.220
. . . . . . g.24635
AGAAAATATGATTTCCTCATAATAGAAGATGATCCTTACTATTTTCTCCAGTTTAACAAG c.720
R K Y D F L I I E D D P Y Y F L Q F N K p.240
| 07 . . . . . . g.26051
| TTCAGGGTACCAACATTTCTTTCCATGGATGTTGATGGACGTGTCATCAGAGCTGACTCT c.780
| F R V P T F L S M D V D G R V I R A D S p.260
. . | 08 . . . . g.26571
TTTTCAAAAATCATTTCCTCTGG | GTTGAGAATAGGATTTTTAACTGGTCCAAAACCCTTA c.840
F S K I I S S G | L R I G F L T G P K P L p.280
. . . . . . g.26631
ATAGAGAGAGTTATTTTACACATACAAGTTTCAACATTGCACCCCAGCACTTTTAACCAG c.900
I E R V I L H I Q V S T L H P S T F N Q p.300
| 09 . . . . . . g.27893
| CTCATGATATCACAGCTTCTACACGAATGGGGAGAAGAAGGTTTCATGGCTCATGTAGAC c.960
| L M I S Q L L H E W G E E G F M A H V D p.320
| 10 . . . . . . g.28801
AG | GGTTATTGATTTCTATAGTAACCAGAAGGATGCAATACTGGCAGCTGCAGACAAGTGG c.1020
R | V I D F Y S N Q K D A I L A A A D K W p.340
| 11. . . . . . g.30449
TTAACTG | GTTTGGCAGAATGGCATGTTCCTGCTGCTGGAATGTTTTTATGGATTAAAGTT c.1080
L T G | L A E W H V P A A G M F L W I K V p.360
. . . . . | 12 . g.33234
AAAGGCATTAATGATGTAAAAGAACTGATTGAAGAAAAGGCCGTTAAGATGGGG | GTATTA c.1140
K G I N D V K E L I E E K A V K M G | V L p.380
. . . . . . g.33294
ATGCTCCCTGGAAATGCTTTCTACGTCGATAGCTCAGCTCCTAGCCCTTACTTGAGAGCA c.1200
M L P G N A F Y V D S S A P S P Y L R A p.400
. . . | 13 . . . g.34276
TCCTTCTCTTCAGCTTCTCCAGAACAGATGGATGTG | GCCTTCCAGGTATTAGCACAACTT c.1260
S F S S A S P E Q M D V | A F Q V L A Q L p.420
. g.34294
ATAAAAGAATCTTTATGA c.1278
I K E S L X p.425
. . . . . . g.34354
agaaattaaactaggttgggcatggtggctcacacctataatcccagcactttgggaggc c.*60
. . . . . . g.34414
agaggagggaggatcacttgaacccaggaattcaaggctgcagtaagctacgatcacacc c.*120
. . . . . . g.34474
actgcactctggcctgcatgcactctggcctgcatggcagaacaagaccctgtctctaaa c.*180
. . . . . . g.34534
aaaagagaaagaaatcaaactaatcatgctgctcatggatttttccaataaatttcttgt c.*240
. . . . . . g.34594
tttggcaggaagaaatgaacactggtattagacttaaagattaaatttcctcaaacatgt c.*300
. . . . . . g.34654
cctatctgtagtagttcaactagacaccttttaaagtgcctctaaattcatcagatggcc c.*360
. . . . . . g.34714
aaactgtatttataatccacttaggcattttgaaaaactttcaacctgtaaaaagttact c.*420
. . . . . . g.34774
tttatcttggatttattatgaagaactttgtagttgctttgtaatttcccataaattgtc c.*480
. . . . . . g.34834
tttgaaactaacattttacactgaattattttgagattttaaagaagtaattaagtgcaa c.*540
. . . . . . g.34894
aatggtatataatgtgtactttttctacttttaggaaaatttaatgagagcttattgcaa c.*600
. . . . . . g.34954
aaattgttataatttggtcattataagtgacttttagtaaaagtaccataaaccttatgt c.*660
. . . . g.35000
tatgccacagaaattcctttaaaataaaattcttaaactaaacata c.*706
(downstream sequence)
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