(used for variant description)
(last modified February 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_015697.7 in the COQ2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering COQ2 transcript NM_015697.7.
(upstream sequence)
. . . . . . g.60
ATGACCCCAATTTCACAAGTAAGGATGAGGAAAGGTTCTGCCCACACCGCCGCCCAGCCT c.60
M T P I S Q V R M R K G S A H T A A Q P p.20
. . . . . . g.120
GGCAGACTAGGATTGCATCCTGCGGGTGCCACTGCGCATGCCTGCCGGGGAATGACGTCA c.120
G R L G L H P A G A T A H A C R G M T S p.40
. . . . . . g.180
ATCCGAGCTCGTCCCGGCCTCACCAGCGCCATGCTGGGCTCGCGAGCCGCGGGGTTCGCG c.180
I R A R P G L T S A M L G S R A A G F A p.60
. . . . . . g.240
CGGGGCCTGCGGGCTGTGGCACTGGCGTGGCTGCCGGGCTGGCGGGGCCGCTCCTTCGCC c.240
R G L R A V A L A W L P G W R G R S F A p.80
. . . . . . g.300
CTGGCGCGTGCGGCAGGCGCGCCCCACGGTGGTGACTTGCAGCCCCCCGCCTGTCCCGAG c.300
L A R A A G A P H G G D L Q P P A C P E p.100
. . . . . . g.360
CCGCGCGGGCGCCAGCTCAGTTTGTCCGCGGCGGCGGTGGTGGACTCTGCGCCCCGCCCC c.360
P R G R Q L S L S A A A V V D S A P R P p.120
. . . . | 02 . . g.5817
CTGCAGCCGTACTTGCGCCTCATGCGGTTGGACAAGCCCATTG | GAACCTGGCTTCTGTAT c.420
L Q P Y L R L M R L D K P I G | T W L L Y p.140
. . . . . . g.5877
TTACCATGTACCTGGAGCATTGGTTTGGCAGCTGAACCAGGTTGTTTTCCAGATTGGTAC c.480
L P C T W S I G L A A E P G C F P D W Y p.160
. . . . . . g.5937
ATGCTCTCCCTCTTTGGCACTGGAGCTATTCTGATGCGTGGAGCAGGCTGTACTATTAAT c.540
M L S L F G T G A I L M R G A G C T I N p.180
. . . | 03 . . . g.11327
GACATGTGGGACCAGGACTATGATAAAAAG | GTTACAAGAACAGCCAATCGTCCAATAGCC c.600
D M W D Q D Y D K K | V T R T A N R P I A p.200
. . . . . . g.11387
GCTGGAGACATTTCAACTTTTCAGTCCTTTGTTTTTCTTGGGGGACAGCTAACCCTGGCA c.660
A G D I S T F Q S F V F L G G Q L T L A p.220
. . . | 04 . . . g.12770
CTGGGTGTTCTTCTGTGTCTAAATTACTACAG | TATAGCTCTGGGAGCAGGATCCTTACTT c.720
L G V L L C L N Y Y S | I A L G A G S L L p.240
. . . . . | 05 g.14923
CTTGTCATCACCTACCCACTAATGAAAAGAATTTCATACTGGCCTCAACTAGCCTTGG | GC c.780
L V I T Y P L M K R I S Y W P Q L A L G | p.260
. . . . . . g.14983
TTGACATTTAATTGGGGAGCGTTACTTGGATGGTCTGCTATCAAGGGTTCCTGTGATCCA c.840
L T F N W G A L L G W S A I K G S C D P p.280
. . . . . . g.15043
TCTGTTTGCCTGCCTCTTTATTTTTCTGGAGTTATGTGGACACTAATATATGATACTATT c.900
S V C L P L Y F S G V M W T L I Y D T I p.300
. | 06 . . . . . g.17188
TATGCCCATCAG | GACAAAAGAGATGATGTTTTGATTGGTCTTAAGTCAACGGCTCTGCGG c.960
Y A H Q | D K R D D V L I G L K S T A L R p.320
. . . . . . g.17248
TTCGGAGAAAATACCAAGCCGTGGCTCAGCGGCTTCAGTGTTGCAATGCTGGGGGCACTG c.1020
F G E N T K P W L S G F S V A M L G A L p.340
. . . . . . g.17308
AGCCTAGTGGGTGTGAACAGTGGACAGACTGCTCCCTACTACGCTGCCCTGGGTGCTGTA c.1080
S L V G V N S G Q T A P Y Y A A L G A V p.360
. . | 07 . . . . g.20590
GGAGCCCATCTGACTCACCAG | ATTTACACTCTAGACATCCACAGACCTGAGGATTGTTGG c.1140
G A H L T H Q | I Y T L D I H R P E D C W p.380
. . . . . . g.20650
AATAAATTTATCTCCAACCGAACACTGGGACTAATAGTTTTTTTAGGGATTGTCCTTGGG c.1200
N K F I S N R T L G L I V F L G I V L G p.400
. . . . . . g.20710
AATTTGTGGAAAGAAAAGAAGACAGACAAAACAAAGAAGGGTATAGAGAATAAAATAGAA c.1260
N L W K E K K T D K T K K G I E N K I E p.420
g.20716
AATTAA c.1266
N X p.421
. . . . . . g.20776
tgaatgaaatttatctaggaatttttaaaacattttttacaaaatataattagatttgaa c.*60
. . . . . . g.20836
tacaaaatctgatacaatatgttaaagaattaagaacctgaagatgaagatttagagcat c.*120
. . . . . . g.20896
atttacctggattttacttatttgctagcaaaattcccccttgtcacagaaaccagggac c.*180
. . . . . . g.20956
tcttcaggatttgagatggccttgagtattttagttgatacattcttctgcccattataa c.*240
. . . . . . g.21016
ttctcacctgaagttatggggattgcacgggttttggcactttagaaaaagcctgatgtg c.*300
. . . . . . g.21076
ggtcttacataaatgaatgtctgtataagaaaatggactcttttttttagggaaaaataa c.*360
. g.21091
aagcaactatgggaa c.*375
(downstream sequence)
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