(used for variant description)
(last modified September 14, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_182476.2 in the COQ6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032805.1, covering COQ6 transcript NM_182476.2.
(upstream sequence)
. . g.5339
cgggattggagtgctctgctc c.-61
. . . . . . g.5399
cggacgcactacgtaggtgggcctgcgggagttctgagtgcgacggcgcaggtctgcacc c.-1
. . . . . . g.5459
ATGGCGGCCCGGCTTGTCAGCCGATGCGGGGCTGTGCGTGCAGCTCCCCACAGCGGCCCG c.60
M A A R L V S R C G A V R A A P H S G P p.20
. . . . . . g.5519
CTGGTGTCCTGGCGCAGGTGGTCCGGCGCCTCAACAGACACCGTGTATGACGTGGTGGTG c.120
L V S W R R W S G A S T D T V Y D V V V p.40
. . . . | 02 . . g.8518
TCGGGTGGAGGCCTGGTGGGCGCTGCCATGGCCTGTGCCTTGG | GATATGATATTCACTTT c.180
S G G G L V G A A M A C A L G | Y D I H F p.60
. . . . . . g.8578
CATGACAAGAAAATCCTGTTGCTCGAAGCAGGTCCAAAGAAAGTACTGGAGAAATTGTCA c.240
H D K K I L L L E A G P K K V L E K L S p.80
. . . . . | 03 g.10519
GAAACTTACAGCAACAGGGTCAGCTCCATTTCCCCTGGCTCTGCAACGCTTCTCAGTA | GT c.300
E T Y S N R V S S I S P G S A T L L S S | p.100
. . . . . | 04. g.10874
TTTGGTGCCTGGGACCATATCTGCAACATGAGATACAGAGCCTTTCGGCGAATGCAG | GTG c.360
F G A W D H I C N M R Y R A F R R M Q | V p.120
. . . . . . g.10934
TGGGACGCCTGCTCAGAGGCCCTGATAATGTTTGATAAGGATAATTTAGATGACATGGGC c.420
W D A C S E A L I M F D K D N L D D M G p.140
. . . . . . g.10994
TATATCGTGGAGAATGATGTCATCATGCATGCTCTCACTAAGCAGTTGGAGGCTGTGTCT c.480
Y I V E N D V I M H A L T K Q L E A V S p.160
| 05 . . . . . . g.13272
G | ACCGAGTGACGGTTCTCTACAGGAGCAAAGCCATTCGCTATACCTGGCCTTGTCCATTT c.540
D | R V T V L Y R S K A I R Y T W P C P F p.180
. . . . . . g.13332
CCTATGGCCGACTCCAGCCCTTGGGTTCATATTACCCTAGGTGATGGCAGCACCTTCCAG c.600
P M A D S S P W V H I T L G D G S T F Q p.200
. | 06 . . . . . g.14085
ACCAAATTGTTG | ATAGGTGCAGATGGTCACAACTCCGGAGTACGGCAGGCTGTTGGAATC c.660
T K L L | I G A D G H N S G V R Q A V G I p.220
. . . . . . g.14145
CAGAATGTGAGCTGGAACTATGACCAGTCTGCTGTTGTGGCTACTCTGCATTTATCAGAG c.720
Q N V S W N Y D Q S A V V A T L H L S E p.240
| 07 . . . . . . g.14288
| GCCACAGAAAACAACGTAGCCTGGCAGAGATTTCTTCCCTCTGGGCCTATTGCTCTGCTC c.780
| A T E N N V A W Q R F L P S G P I A L L p.260
| 08 . . . . . . g.14538
CCG | CTCTCAGACACCTTGAGTTCCTTGGTTTGGTCCACGTCCCATGAACATGCAGCAGAG c.840
P | L S D T L S S L V W S T S H E H A A E p.280
. . . . . | 09 . g.16248
CTAGTTAGCATGGATGAGGAAAAATTTGTGGATGCCGTTAACTCTGCCTTT | TGGAGTGAT c.900
L V S M D E E K F V D A V N S A F | W S D p.300
. . . . . . g.16308
GCTGACCACACGGACTTCATCGACACAGCTGGTGCCATGCTGCAGTATGCTGTCAGCCTT c.960
A D H T D F I D T A G A M L Q Y A V S L p.320
. . . . . . g.16368
CTGAAGCCCACTAAGGTCTCGGCTCGCCAGCTGCCCCCAAGCGTAGCCAGGGTGGATGCC c.1020
L K P T K V S A R Q L P P S V A R V D A p.340
. . . . . . g.16428
AAAAGCCGAGTTCTGTTTCCTCTTGGGTTGGGACATGCTGCTGAGTACGTCAGGCCTCGG c.1080
K S R V L F P L G L G H A A E Y V R P R p.360
. | 10 . . . . . g.16567
GTGGCGCTCATTGG | GGATGCAGCCCACAGAGTCCATCCGCTTGCAGGACAGGGTGTCAAC c.1140
V A L I G | D A A H R V H P L A G Q G V N p.380
. . . . . . g.16627
ATGGGCTTTGGGGATATCTCCAGCTTGGCCCATCACCTCAGTACGGCAGCCTTCAATGGG c.1200
M G F G D I S S L A H H L S T A A F N G p.400
. | 11 . . . . . g.16853
AAGGACTTAG | GTTCCGTGAGCCACCTCACAGGTTATGAAACAGAAAGACAGCGTCACAAC c.1260
K D L G | S V S H L T G Y E T E R Q R H N p.420
. . . . . . g.16913
ACTGCTCTTCTGGCTGCTACAGACTTACTAAAAAGGCTCTATTCTACCAGTGCCTCCCCG c.1320
T A L L A A T D L L K R L Y S T S A S P p.440
. . . . . | 12. g.18039
CTTGTGTTGCTCAGGACGTGGGGCTTGCAGGCCACAAATGCAGTGTCTCCACTCAAA | GAA c.1380
L V L L R T W G L Q A T N A V S P L K | E p.460
. . g.18066
CAGATTATGGCCTTTGCAAGCAAATGA c.1407
Q I M A F A S K X p.468
. . . . . . g.18126
gtactcctctcctaaagaaagattacgttgatgaaaaagaacatcctgcccaggacccat c.*60
. . . . . g.18179
catacatattttcaagatcttatttaatttaataaacttactttacattaaaa c.*113
(downstream sequence)
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