(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_015386.2 in the COG4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027529.1, covering COG4 transcript NM_015386.2.
(upstream sequence)
. g.5011
ggaagtgccga c.-1
. . . . . . g.5071
ATGGGGACCAAGATGGCGGACCTTGATTCGCCTCCGAAGCTGTCAGGGGTGCAGCAGCCG c.60
M G T K M A D L D S P P K L S G V Q Q P p.20
. . . . . . g.5131
TCTGAGGGGGTGGGAGGTGGCCGCTGCTCCGAAATCTCCGCTGAGCTCATTCGCTCCCTG c.120
S E G V G G G R C S E I S A E L I R S L p.40
. . . . . | 02 . g.8832
ACAGAGCTGCAGGAGCTGGAGGCTGTATACGAACGGCTCTGCGGCGAGGAG | AAAGTGGTG c.180
T E L Q E L E A V Y E R L C G E E | K V V p.60
. . . . . . g.8892
GAGAGAGAGCTGGATGCTCTTTTGGAACAGCAAAACACCATTGAAAGTAAGATGGTCACT c.240
E R E L D A L L E Q Q N T I E S K M V T p.80
. | 03 . . . . . g.10860
CTCCACCGAATGGG | TCCTAATCTGCAGCTGATTGAGGGAGATGCAAAGCAGCTGGCTGGA c.300
L H R M G | P N L Q L I E G D A K Q L A G p.100
. . . . . . g.10920
ATGATCACCTTTACCTGCAACCTGGCTGAGAATGTGTCCAGCAAAGTTCGTCAGCTTGAC c.360
M I T F T C N L A E N V S S K V R Q L D p.120
| 04 . . . . . g.14096
CTGGCCAAG | AACCGCCTCTATCAGGCCATTCAGAGAGCTGATGACATCTTGGACCTGAAG c.420
L A K | N R L Y Q A I Q R A D D I L D L K p.140
. . . . . . g.14156
TTCTGCATGGATGGAGTTCAGACTGCTTTGAGGAGTGAAGATTATGAGCAGGCTGCAGCA c.480
F C M D G V Q T A L R S E D Y E Q A A A p.160
. . . . . . g.14216
CATACTCATCGCTACTTGTGCCTGGACAAGTCGGTCATTGAGCTCAGCCGACAGGGCAAA c.540
H T H R Y L C L D K S V I E L S R Q G K p.180
| 05 . . . . . . g.16178
GAGG | GGAGCATGATTGATGCCAACCTGAAATTGCTGCAGGAAGCTGAGCAACGTCTCAAA c.600
E G | S M I D A N L K L L Q E A E Q R L K p.200
. . . . . . g.16238
GCCATTGTGGCAGAGAAGTTTGCCATTGCCACCAAGGAAGGTGATCTGCCCCAGGTGGAG c.660
A I V A E K F A I A T K E G D L P Q V E p.220
. . . . . . g.16298
CGCTTCTTCAAGATCTTCCCACTGCTGGGTTTGCATGAGGAGGGATTAAGAAAGTTCTCG c.720
R F F K I F P L L G L H E E G L R K F S p.240
. | 06 . . . . g.18575
GAGTACCTTTGCAAGCAG | GTGGCCAGTAAAGCTGAGGAGAATCTGCTCATGGTGCTGGGG c.780
E Y L C K Q | V A S K A E E N L L M V L G p.260
. . . . . . g.18635
ACAGACATGAGTGATCGGAGAGCTGCAGTCATCTTTGCAGATACACTTACTCTTCTGTTT c.840
T D M S D R R A A V I F A D T L T L L F p.280
| 07 . . . . . . g.19222
GAAG | GGATTGCCCGCATTGTGGAGACCCACCAGCCAATAGTGGAGACCTATTATGGGCCA c.900
E G | I A R I V E T H Q P I V E T Y Y G P p.300
. . . . . . g.19282
GGGAGACTCTATACCCTGATCAAATATCTGCAGGTGGAATGTGACAGACAGGTGGAGAAG c.960
G R L Y T L I K Y L Q V E C D R Q V E K p.320
. . . . | 08 . . g.20108
GTGGTAGACAAGTTCATCAAGCAAAGGGACTACCACCAGCAG | TTCCGGCATGTTCAGAAC c.1020
V V D K F I K Q R D Y H Q Q | F R H V Q N p.340
. . . . | 09 . . g.27482
AACCTGATGAGAAATTCTACAACAGAAAAAATCGAACCAAG | AGAACTGGACCCCATCCTG c.1080
N L M R N S T T E K I E P R | E L D P I L p.360
. . . . . . g.27542
ACTGAGGTCACCCTGATGAATGCCCGCAGTGAGCTATACTTACGCTTCCTCAAGAAGAGG c.1140
T E V T L M N A R S E L Y L R F L K K R p.380
. . . . . | 10 . g.30504
ATTAGCTCTGATTTTGAGGTGGGAGACTCCATGGCCTCAGAGGAAGTAAAGCAAG | AGCAC c.1200
I S S D F E V G D S M A S E E V K Q E | H p.400
. . . . . . g.30564
CAGAAGTGTCTGGACAAACTCCTCAATAACTGCCTTTTGAGCTGTACCATGCAGGAGCTA c.1260
Q K C L D K L L N N C L L S C T M Q E L p.420
. . . . . | 11 . g.31173
ATTGGCTTATATGTTACCATGGAGGAGTACTTCATGAGGGAGACTGTCAATAAG | GCTGTG c.1320
I G L Y V T M E E Y F M R E T V N K | A V p.440
. . . . . . g.31233
GCTCTGGACACCTATGAGAAGGGCCAGCTGACATCCAGCATGGTGGATGATGTCTTCTAC c.1380
A L D T Y E K G Q L T S S M V D D V F Y p.460
. . . . . . g.31293
ATTGTTAAGAAGTGCATTGGGCGGGCTCTGTCCAGCTCCAGCATTGACTGTCTCTGTGCC c.1440
I V K K C I G R A L S S S S I D C L C A p.480
. . . . | 12 . . g.32142
ATGATCAACCTCGCCACCACAGAGCTGGAGTCTGACTTCAG | GGATGTTCTGTGTAATAAG c.1500
M I N L A T T E L E S D F R | D V L C N K p.500
. . . . . . g.32202
CTGCGGATGGGCTTTCCTGCCACCACCTTCCAGGACATCCAGCGCGGGGTGACAAGTGCC c.1560
L R M G F P A T T F Q D I Q R G V T S A p.520
. . . . . . g.32262
GTGAACATCATGCACAGCAGCCTCCAGCAAGGCAAATTTGACACAAAAGGCATCGAGAGT c.1620
V N I M H S S L Q Q G K F D T K G I E S p.540
. . | 13. . . . g.38195
ACTGACGAGGCGAAGATGTCCTTCCTG | GTGACTCTGAACAACGTGGAAGTCTGCAGTGAA c.1680
T D E A K M S F L | V T L N N V E V C S E p.560
. . . | 14 . . . g.44615
AACATCTCCACTCTGAAGAAGACACTGGAG | AGTGACTGCACCAAGCTCTTCAGCCAGGGC c.1740
N I S T L K K T L E | S D C T K L F S Q G p.580
. . . . . . g.44675
ATTGGAGGGGAGCAGGCCCAGGCCAAGTTTGACAGCTGCCTTTCTGACTTGGCCGCCGTG c.1800
I G G E Q A Q A K F D S C L S D L A A V p.600
. . | 15. . . . g.45766
TCCAACAAATTCCGAGACCTCTTGCAG | GAAGGGCTGACGGAGCTCAACAGCACAGCCATC c.1860
S N K F R D L L Q | E G L T E L N S T A I p.620
. . . . . . g.45826
AAGCCACAGGTGCAGCCTTGGATCAACAGCTTTTTCTCCGTCTCCCACAACATCGAGGAG c.1920
K P Q V Q P W I N S F F S V S H N I E E p.640
| 16 . . . . . . g.46439
| GAAGAATTCAATGACTATGAGGCCAACGACCCTTGGGTACAACAGTTCATCCTTAACCTG c.1980
| E E F N D Y E A N D P W V Q Q F I L N L p.660
. . | 17 . . . . g.46725
GAGCAGCAAATGGCAGAGTTCAAG | GCCAGCCTGTCCCCGGTCATCTACGACAGCCTAACC c.2040
E Q Q M A E F K | A S L S P V I Y D S L T p.680
. . . . . . g.46785
GGCCTCATGACTAGCCTTGTTGCCGTCGAGTTGGAGAAAGTGGTGCTGAAATCCACCTTT c.2100
G L M T S L V A V E L E K V V L K S T F p.700
| 18 . . . . . . g.47121
AACCGG | CTGGGTGGTCTGCAGTTTGACAAGGAGCTGAGGTCGCTCATTGCCTACCTTACC c.2160
N R | L G G L Q F D K E L R S L I A Y L T p.720
. . . . . . g.47181
ACGGTGACCACCTGGACCATCCGAGACAAGTTTGCCCGGCTCTCCCAGATGGCCACCATC c.2220
T V T T W T I R D K F A R L S Q M A T I p.740
. | 19 . . . . . g.47455
CTCAATCTGGAGCGG | GTGACCGAGATCCTCGATTACTGGGGACCCAATTCCGGCCCATTG c.2280
L N L E R | V T E I L D Y W G P N S G P L p.760
. . . . . . g.47515
ACGTGGCGCCTCACCCCTGCTGAAGTGCGCCAGGTGCTGGCCCTGCGGATAGACTTCCGC c.2340
T W R L T P A E V R Q V L A L R I D F R p.780
. . . g.47545
AGTGAAGATATCAAGAGGCTGCGCCTGTAG c.2370
S E D I K R L R L X p.789
. . . . . . g.47605
ctgcctggatgagcacacctggctcatcacacttgcaggcctgttccctaaggggcccca c.*60
. . . . . . g.47665
gccaaggagctgagcgaggctgtctggcttgggggagatctgacagcccagacctttcta c.*120
. . . . . . g.47725
cggctggcagcagagaaacaaagtctggacccactccatgctctgccctcagacctggcc c.*180
. . . . . . g.47785
aggtgatgctctgggggcagcatctccccaccgagagaagcgggctcctaatgaggtggg c.*240
. . . . . . g.47845
aaagccacggcaggcagcgagcagcccaggccagctttctgcatggatggtcagtctctt c.*300
. . . . . . g.47905
gccctcaaacactacagcaaacaagctacccctgccagtcctagacaacttgggtacatc c.*360
. . . . . . g.47965
tggggacctagcagttaggcttgactttgaggagaggctgtgatgtttatgatccctgaa c.*420
. . g.47986
taaagctactccttggagaga c.*441
(downstream sequence)
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