(used for variant description)
(last modified December 7, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001086.2 in the AADAC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering AADAC transcript NM_001086.2.
(upstream sequence)
. . . g.5030
aagcacactgcttattaaagtacactattc c.-61
. . . . . . g.5090
aggcatatcatgtaggtttactttctgtgtttctagagaccaagaagcgggacgttcacc c.-1
. . . . . . g.5150
ATGGGAAGAAAATCGCTGTACCTTCTGATTGTGGGGATCCTCATAGCATATTATATTTAT c.60
M G R K S L Y L L I V G I L I A Y Y I Y p.20
. . . . . . g.5210
ACGCCTCTCCCAGATAACGTTGAGGAGCCATGGAGAATGATGTGGATAAACGCACATCTG c.120
T P L P D N V E E P W R M M W I N A H L p.40
. | 02 . . . . g.8335
AAAACTATACAAAATTTG | GCTACATTTGTGGAGCTCCTGGGACTTCACCATTTTATGGAT c.180
K T I Q N L | A T F V E L L G L H H F M D p.60
. . . . . . g.8395
TCCTTTAAGGTTGTCGGGAGCTTTGATGAAGTCCCACCAACCTCAGATGAAAATGTCACT c.240
S F K V V G S F D E V P P T S D E N V T p.80
. . . . . . g.8455
GTGACTGAGACAAAATTCAACAACATTCTTGTTCGGGTATATGTGCCAAAGAGAAAGTCT c.300
V T E T K F N N I L V R V Y V P K R K S p.100
. . . . . . g.8515
GAAGCACTAAGAAGGGGGTTGTTTTACATCCATGGTGGAGGCTGGTGCGTGGGAAGTGCT c.360
E A L R R G L F Y I H G G G W C V G S A p.120
| 03 . . . . . . g.11369
G | CTCTAAGTGGTTATGACTTGCTGTCAAGATGGACAGCAGACAGACTTGATGCTGTCGTC c.420
A | L S G Y D L L S R W T A D R L D A V V p.140
. | 04 . . . . . g.15639
GTATCAACCAA | CTACAGATTAGCACCTAAGTATCATTTCCCAATTCAATTTGAAGATGTA c.480
V S T N | Y R L A P K Y H F P I Q F E D V p.160
. . . . . . g.15699
TATAATGCCTTAAGGTGGTTCTTACGTAAAAAAGTTCTTGCAAAATATGGTGTGAACCCT c.540
Y N A L R W F L R K K V L A K Y G V N P p.180
. . . . . . g.15759
GAGAGAATCGGTATTTCTGGAGATAGTGCAGGAGGGAATTTAGCTGCAGCAGTGACTCAA c.600
E R I G I S G D S A G G N L A A A V T Q p.200
| 05 . . . . . . g.18560
CAG | CTCCTTGATGACCCAGATGTCAAGATCAAACTCAAGATCCAGTCTTTAATTTATCCT c.660
Q | L L D D P D V K I K L K I Q S L I Y P p.220
. . . . . . g.18620
GCCCTTCAGCCTCTTGATGTAGATTTACCGTCATATCAAGAAAATTCAAATTTTCTATTT c.720
A L Q P L D V D L P S Y Q E N S N F L F p.240
. . . . . . g.18680
CTATCCAAATCACTCATGGTCAGATTCTGGAGTGAATATTTTACCACTGATAGATCACTT c.780
L S K S L M V R F W S E Y F T T D R S L p.260
. . . . . . g.18740
GAAAAAGCCATGCTTTCCAGACAACATGTACCTGTGGAATCAAGTCATCTCTTCAAATTT c.840
E K A M L S R Q H V P V E S S H L F K F p.280
. . . . . . g.18800
GTTAATTGGAGTTCCCTGCTCCCTGAGAGGTTTATAAAAGGACATGTTTATAACAATCCA c.900
V N W S S L L P E R F I K G H V Y N N P p.300
. . . . . . g.18860
AATTATGGCAGTTCTGAGCTGGCTAAAAAATATCCAGGGTTCCTAGATGTGAGGGCAGCC c.960
N Y G S S E L A K K Y P G F L D V R A A p.320
. . . . . . g.18920
CCTTTGTTGGCTGATGACAACAAATTACGTGGCTTACCCCTGACCTATGTCATCACCTGT c.1020
P L L A D D N K L R G L P L T Y V I T C p.340
. . . . . . g.18980
CAATATGATCTCTTAAGAGATGATGGACTCATGTATGTCACCCGACTTCGCAACACTGGG c.1080
Q Y D L L R D D G L M Y V T R L R N T G p.360
. . . . . . g.19040
GTTCAGGTGACTCATAACCATGTTGAGGATGGATTCCATGGAGCATTTTCATTTCTGGGA c.1140
V Q V T H N H V E D G F H G A F S F L G p.380
. . . . . . g.19100
CTTAAAATTAGTCACAGACTTATAAATCAGTATATTGAGTGGCTAAAGGAAAATCTATAG c.1200
L K I S H R L I N Q Y I E W L K E N L X p.399
. . . . . . g.19160
taaaacatgtagctataacatattttaaaaataaaatctgaaaacctcagaaaatttgca c.*60
. . . . . . g.19220
ttagaaattggtctttcttagaatggtctagttaagttccacatgtagcataattcttaa c.*120
. . . . . . g.19280
ataggcacttttctgttttttttttcttactgtgggatttcatttcaattttctacattg c.*180
. . . . . . g.19340
tctatctgctttttctgagattttccttcttacactgttaatcttattttaaaaaatatt c.*240
. . . . . . g.19400
acattcttgtatactttatttttgtgagttggctactatttacgatgcaagagaataaat c.*300
. g.19416
gtgagcaaatattgcc c.*316
(downstream sequence)
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