(used for mutation description)
(last modified July 20, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_014384.2 in the ACAD8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering ACAD8 transcript NM_014384.2.
(upstream sequence)
g.5001
g c.-61
. . . . . . g.5061
cgagcgcaacggaggtcgaaggcgttcagactcttagctgaacgcggagctgcggcggct c.-1
. . . . . . g.5121
ATGCTGTGGAGCGGCTGCCGGCGTTTCGGGGCGCGCCTCGGCTGCCTGCCCGGCGGTCTC c.60
M L W S G C R R F G A R L G C L P G G L p.20
. . . . | 02 . g.8019
CGGGTCCTCGTCCAGACCGGCCACCGGAGCTTGACCTCCTGCATCGACC | CTTCCATGGGA c.120
R V L V Q T G H R S L T S C I D P | S M G p.40
. . . . . . g.8079
CTTAATGAAGAGCAGAAAGAATTTCAAAAAGTGGCCTTTGACTTTGCTGCCCGAGAGATG c.180
L N E E Q K E F Q K V A F D F A A R E M p.60
. . . | 03 . . . g.8578
GCTCCAAATATGGCAGAGTGGGACCAGAAG | GAGCTGTTCCCAGTGGATGTGATGCGGAAG c.240
A P N M A E W D Q K | E L F P V D V M R K p.80
. . . . . . g.8638
GCAGCCCAGCTAGGCTTCGGAGGGGTCTACATACAAACAGATGTGGGCGGGTCTGGGCTG c.300
A A Q L G F G G V Y I Q T D V G G S G L p.100
. . . . . . g.8698
TCACGTCTTGATACCTCTGTCATTTTTGAAGCCTTGGCTACAGGCTGCACCAGCACCACA c.360
S R L D T S V I F E A L A T G C T S T T p.120
. . | 04 . . . . g.10015
GCCTATATAAGCATCCACAA | CATGTGTGCCTGGATGATTGATAGCTTCGGAAATGAGGAA c.420
A Y I S I H N | M C A W M I D S F G N E E p.140
. . . . . . g.10075
CAGAGGCACAAATTTTGCCCACCGCTCTGTACCATGGAGAAGTTTGCTTCCTACTGCCTC c.480
Q R H K F C P P L C T M E K F A S Y C L p.160
. | 05 . . . . . g.10518
ACTGAACCAG | GAAGTGGGAGTGATGCTGCCTCTCTTCTGACCTCCGCTAAGAAACAGGGA c.540
T E P G | S G S D A A S L L T S A K K Q G p.180
. . | 06. . . . g.11101
GATCATTACATCCTCAATGGCTCCAAG | GCCTTCATCAGTGGTGCTGGTGAGTCAGACATC c.600
D H Y I L N G S K | A F I S G A G E S D I p.200
. . . . . . g.11161
TATGTGGTCATGTGCCGAACAGGAGGACCAGGCCCCAAGGGCATCTCATGCATAGTTGTT c.660
Y V V M C R T G G P G P K G I S C I V V p.220
. . . . | 07 . . g.12519
GAGAAGGGGACCCCTGGCCTCAGCTTTGGCAAGAAGGAGAAAAAG | GTGGGGTGGAACTCC c.720
E K G T P G L S F G K K E K K | V G W N S p.240
. . . . . . g.12579
CAGCCAACACGAGCTGTGATCTTCGAAGACTGTGCTGTCCCTGTGGCCAACAGAATTGGG c.780
Q P T R A V I F E D C A V P V A N R I G p.260
. . . . . . g.12639
AGCGAGGGGCAGGGCTTCCTCATTGCCGTGAGAGGACTGAACGGAGGGAGGATCAATATT c.840
S E G Q G F L I A V R G L N G G R I N I p.280
| 08 . . . . . . g.12794
G | CTTCCTGCTCCCTGGGGGCTGCCCACGCCTCTGTCATCCTCACCCGAGACCACCTCAAT c.900
A | S C S L G A A H A S V I L T R D H L N p.300
. . . | 09 . . g.13219
GTCCGGAAGCAGTTTGGAGAGCCTCTGGCCAGTAACCAG | TACTTGCAATTCACACTGGCT c.960
V R K Q F G E P L A S N Q | Y L Q F T L A p.320
. . . . . . g.13279
GATATGGCAACAAGGCTGGTGGCCGCGCGGCTGATGGTCCGCAATGCAGCAGTGGCTCTG c.1020
D M A T R L V A A R L M V R N A A V A L p.340
. . . . . . g.13339
CAGGAGGAGAGGAAGGATGCAGTGGCCTTGTGCTCCATGGCCAAGCTCTTTGCTACAGAT c.1080
Q E E R K D A V A L C S M A K L F A T D p.360
. | 10 . . . . . g.14028
GAATGCTTTGCC | ATCTGCAACCAGGCCTTGCAGATGCACGGGGGCTACGGCTACCTGAAG c.1140
E C F A | I C N Q A L Q M H G G Y G Y L K p.380
. . . . . | 11 . g.16373
GATTACGCTGTTCAGCAGTACGTGCGGGACTCCAGGGTCCACCAGATTCTAGAAG | GTAGC c.1200
D Y A V Q Q Y V R D S R V H Q I L E G | S p.400
. . . . g.16421
AATGAAGTGATGAGGATACTGATCTCTAGAAGCCTGCTTCAGGAGTAG c.1248
N E V M R I L I S R S L L Q E X p.415
. . . . . . g.16481
aacccacacttgttctggcctggtgttcagtgcgactgcagtcagtgttgagtggtgcca c.*60
. . . . . . g.16541
tgtgggccgctctattccaaaggaatcatggattagacccaagggctgagctcctctagg c.*120
. . . . . . g.16601
gcaggacctgcaccctgtgtgttggcaccagcatcgggtcttggactggggcagaatccc c.*180
. . . . . . g.16661
cagtggaaccggaagagctggactgatgagaaacatcagaagaacacatactaccttgtt c.*240
. . . . . . g.16721
ttcctaatgccagaagggtgaccagtgaagattcaccgtcaaaccatgaaagtcctttct c.*300
. . . . . . g.16781
tggatccactttatcttgattagtctgcattttactagttcactggatccctcctctagg c.*360
. . . . . . g.16841
ggcctggggactttcactgatgctcttcctgattctagagcaaaggtgtgggaaggggaa c.*420
. . . . . . g.16901
atggaggaatgccctcctgtctgtgtcgttctctgtgccacagctacagatgcagaaggt c.*480
. . . . . . g.16961
ttctctggatagcacacctctgaatgtaaatcatgataaaatggatatttggaaacttac c.*540
. . . . . . g.17021
tcctaagctgtgatttagggtgtatttctacttctggactgcctcaatatcaagggctga c.*600
. . . . . . g.17081
gacttttgaattttgaatattcgttgggtttcatgttaagaagcctgtggtctaggagtg c.*660
. . . . . . g.17141
ctattcagtgtttcttttcctgataaacactttgaatattttttttgtgtttttgtttcc c.*720
. . . . . . g.17201
ttttctgaagctgttcctccttttaaatatttttaatcacattgataaaatctatccttc c.*780
. . . . . . g.17261
accacctctggttctactatagttgatttttattttaaatgtttaattgtatttgattaa c.*840
. . . . . g.17316
acacttaactggattttggaataataaaactctcgtccaatttggcttttaaaaa c.*895
(downstream sequence)
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