(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_018714.2 in the COG1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008971.1, covering COG1 transcript NM_018714.2.
(upstream sequence)
. . . g.5036
ggcgtaggtagatcgccgggggctgacgagtgcacc c.-1
. . . . . . g.5096
ATGGCCACCGCGGCAACCTCACCCGCGCTGAAGCGGCTGGATCTGCGCGACCCTGCGGCT c.60
M A T A A T S P A L K R L D L R D P A A p.20
. . . . . . g.5156
CTTTTCGAGACGCATGGAGCGGAGGAGATCCGCGGGCTGGAGCGCCAGGTTCGGGCCGAG c.120
L F E T H G A E E I R G L E R Q V R A E p.40
. . . . . . g.5216
ATCGAGCACAAGAAGGAGGAGCTGCGGCAGATGGTGGGCGAACGGTACCGCGACCTGATC c.180
I E H K K E E L R Q M V G E R Y R D L I p.60
. . . . . . g.5276
GAGGCGGCCGACACCATCGGCCAGATGCGCCGCTGCGCCGTGGGGCTAGTGGACGCCGTG c.240
E A A D T I G Q M R R C A V G L V D A V p.80
. . . . . . g.5336
AAGGCCACCGACCAGTACTGCGCCCGCCTCCGCCAGGCCGGCTCGGCCGCGCCCCGGCCA c.300
K A T D Q Y C A R L R Q A G S A A P R P p.100
. | 02 . . . . . g.8518
CCGCGGGCCCAGCAG | CCACAGCAGCCATCCCAGGAGAAGTTCTACAGCATGGCTGCCCAG c.360
P R A Q Q | P Q Q P S Q E K F Y S M A A Q p.120
. . . . . . g.8578
ATCAAGCTACTCTTAGAAATTCCGGAGAAGATCTGGAGCTCGATGGAAGCCTCTCAGTGT c.420
I K L L L E I P E K I W S S M E A S Q C p.140
. . . . . . g.8638
CTCCACGCCACACAGCTCTACCTGCTCTGCTGCCACCTCCACAGCCTGCTCCAGCTGGAT c.480
L H A T Q L Y L L C C H L H S L L Q L D p.160
. . . . . . g.8698
TCTTCTAGTTCCCGATACAGTCCCGTCCTCTCCCGGTTTCCTATACTCATCCGGCAGGTG c.540
S S S S R Y S P V L S R F P I L I R Q V p.180
. . | 03 . . . . g.8906
GCAGCCGCCAGCCACTTCCG | GTCAACTATTCTGCATGAAAGCAAGATGTTGCTCAAATGC c.600
A A A S H F R | S T I L H E S K M L L K C p.200
. . . . . . g.8966
CAAGGTGTGTCTGACCAAGCTGTGGCCGAGGCCCTGTGCTCTATAATGCTCTTAGAAGAG c.660
Q G V S D Q A V A E A L C S I M L L E E p.220
. . . . . . g.9026
AGTTCTCCTCGCCAAGCCCTCACAGACTTCCTGCTGGCCAGAAAGGCAACTATTCAGAAA c.720
S S P R Q A L T D F L L A R K A T I Q K p.240
. . | 04 . . . . g.9230
CTTCTCAACCAGCCACACCATG | GTGCTGGTATCAAGGCTCAGATTTGCTCATTAGTGGAG c.780
L L N Q P H H G | A G I K A Q I C S L V E p.260
. . . . . . g.9290
TTGCTGGCCACCACTCTGAAGCAAGCTCATGCCCTTTTCTACACTTTGCCAGAAGGACTG c.840
L L A T T L K Q A H A L F Y T L P E G L p.280
. . . . . . g.9350
CTGCCAGATCCAGCCCTGCCATGTGGCTTGCTCTTCTCTACTCTGGAGACCATCACAGGC c.900
L P D P A L P C G L L F S T L E T I T G p.300
. | 05 . . . . . g.11878
CAGCATCCTGCCG | GAAAGGGCACTGGTGTCCTGCAGGAAGAGATGAAACTCTGCAGCTGG c.960
Q H P A G | K G T G V L Q E E M K L C S W p.320
. . . . . . g.11938
TTTAAACACCTGCCAGCATCCATCGTCGAGTTCCAGCCAACACTCCGAACCCTTGCACAT c.1020
F K H L P A S I V E F Q P T L R T L A H p.340
. . . . . | 06 . g.12542
CCCATCAGTCAGGAATACCTGAAAGACACGCTGCAGAAATGGATCCACAT | GTGTAATGAA c.1080
P I S Q E Y L K D T L Q K W I H M | C N E p.360
. . . . . . g.12602
GACATTAAAAATGGGATCACCAACCTGCTCATGTACGTGAAGAGCATGAAGGGTCTCGCG c.1140
D I K N G I T N L L M Y V K S M K G L A p.380
. . . . . . g.12662
GGAATCCGGGACGCCATGTGGGAGTTACTTACCAATGAGTCCACCAATCACAGCTGGGAT c.1200
G I R D A M W E L L T N E S T N H S W D p.400
. . . . . . g.12722
GTGCTATGTCGGCGGCTTCTGGAGAAGCCGCTCTTGTTCTGGGAAGATATGATGCAGCAA c.1260
V L C R R L L E K P L L F W E D M M Q Q p.420
. . | 07 . . . . g.13114
CTGTTCCTTGACCGATTACAG | ACTCTGACAAAAGAAGGCTTTGACTCCATCTCCAGTAGC c.1320
L F L D R L Q | T L T K E G F D S I S S S p.440
. . . . . . g.13174
TCCAAGGAGCTCTTGGTTTCAGCTTTGCAGGAACTTGAAAGCAGCACCAGCAACTCCCCT c.1380
S K E L L V S A L Q E L E S S T S N S P p.460
. . . . . . g.13234
TCAAATAAGCACATCCACTTTGAGTACAACATGTCGCTCTTCCTCTGGTCTGAGAGTCCT c.1440
S N K H I H F E Y N M S L F L W S E S P p.480
. . . . . . g.13294
AATGACCTGCCTTCCGATGCGGCCTGGGTCAGCGTGGCAAACCGGGGTCAGTTTGCCAGT c.1500
N D L P S D A A W V S V A N R G Q F A S p.500
. . . . . . g.13354
AGCGGCCTCTCCATGAAAGCACAAGCCATCAGCCCTTGTGTACAGAACTTCTGTTCTGCC c.1560
S G L S M K A Q A I S P C V Q N F C S A p.520
. . . . . . g.13414
CTGGATTCTAAGCTGAAGGTTAAACTAGATGACCTCCTGGCTTACCTCCCCTCTGATGAC c.1620
L D S K L K V K L D D L L A Y L P S D D p.540
. . . . . . g.13474
TCATCACTGCCCAAGGACGTTTCTCCCACACAGGCCAAGAGTTCTGCCTTTGACAGATAC c.1680
S S L P K D V S P T Q A K S S A F D R Y p.560
. . . . . . g.13534
GCAGATGCGGGGACCGTGCAGGAGATGCTGCGGACTCAGTCCGTGGCATGCATCAAGCAC c.1740
A D A G T V Q E M L R T Q S V A C I K H p.580
. . . . . . g.13594
ATCGTGGACTGCATCCGGGCAGAGCTACAGAGCATTGAAGAGGGTGTGCAAGGGCAACAG c.1800
I V D C I R A E L Q S I E E G V Q G Q Q p.600
. . . . . . g.13654
GATGCCCTCAACAGTGCCAAGCTGCACTCAGTTCTTTTCATGGCCAGACTCTGCCAGTCC c.1860
D A L N S A K L H S V L F M A R L C Q S p.620
. . . . . . g.13714
CTGGGAGAGCTGTGCCCCCATCTGAAGCAGTGCATCCTGGGAAAATCAGAGAGCTCAGAG c.1920
L G E L C P H L K Q C I L G K S E S S E p.640
. . . . . . g.13774
AAACCAGCAAGGGAGTTTAGGGCTCTGAGAAAACAGGGAAAGGTGAAAACTCAGGAAATC c.1980
K P A R E F R A L R K Q G K V K T Q E I p.660
. . . . . . g.13834
ATTCCTACACAGGCCAAGTGGCAAGAGGTTAAAGAAGTACTCCTCCAGCAGAGCGTGATG c.2040
I P T Q A K W Q E V K E V L L Q Q S V M p.680
. . . | 08 . . . g.14993
GGCTACCAGGTCTGGAGCAGTGCAGTTGTGAAA | GTTTTGATTCATGGATTCACCCAGTCA c.2100
G Y Q V W S S A V V K | V L I H G F T Q S p.700
. . . . . . g.15053
TTACTTCTAGATGATGCTGGCTCAGTTCTGGCCACAGCCACCAGCTGGGATGAGCTAGAA c.2160
L L L D D A G S V L A T A T S W D E L E p.720
. . . . . . g.15113
ATTCAGGAGGAGGCAGAGTCTGGCAGCAGTGTCACATCCAAGATCCGACTCCCTGCACAG c.2220
I Q E E A E S G S S V T S K I R L P A Q p.740
| 09 . . . . . . g.15658
| CCGTCCTGGTATGTACAGTCCTTCCTGTTTAGTTTATGCCAGGAAATTAATCGGGTTGGA c.2280
| P S W Y V Q S F L F S L C Q E I N R V G p.760
. . . . . . g.15718
GGCCATGCCTTGCCAAAGGTGACATTACAGGAGATGCTGAAAAGCTGTATGGTTCAAGTA c.2340
G H A L P K V T L Q E M L K S C M V Q V p.780
. . . . | 10 . . g.17537
GTAGCTGCCTATGAGAAACTCTCCGAAGAAAAACAGATTAAG | AAAGAAGGTGCATTTCCA c.2400
V A A Y E K L S E E K Q I K | K E G A F P p.800
. . . . . . g.17597
GTCACCCAGAACCGGGCGCTGCAGCTGCTTTATGATCTGCGTTACCTCAACATTGTTCTG c.2460
V T Q N R A L Q L L Y D L R Y L N I V L p.820
. . . . . | 11 . g.18130
ACAGCCAAGGGTGACGAGGTGAAGAGTGGCCGGAGCAAGCCAGACTCCAG | AATTGAGAAA c.2520
T A K G D E V K S G R S K P D S R | I E K p.840
. . . . . . g.18190
GTGACTGACCACCTGGAAGCCCTCATTGATCCATTTGACCTGGACGTTTTCACGCCACAC c.2580
V T D H L E A L I D P F D L D V F T P H p.860
. . . | 12 . . g.18695
CTCAACAGCAACCTTCATCGCCTGGTGCAGCGAACTTCT | GTTCTGTTTGGATTGGTGACT c.2640
L N S N L H R L V Q R T S | V L F G L V T p.880
. . . . . . g.18755
GGTACAGAGAATCAGCTCGCCCCCCGGAGCAGTACGTTCAACTCCCAAGAACCCCATAAC c.2700
G T E N Q L A P R S S T F N S Q E P H N p.900
. . | 13 . . . g.19178
ATCCTGCCACTGGCATCCAGTCAGATCAG | GTTTGGACTTCTCCCACTGAGCATGACAAGC c.2760
I L P L A S S Q I R | F G L L P L S M T S p.920
. . . . | 14 . . g.20295
ACTCGAAAGGCTAAATCAACCAGAAACATCGAAACAAAAGCTCAG | GTTGTCCCCCCGGCA c.2820
T R K A K S T R N I E T K A Q | V V P P A p.940
. . . . . . g.20355
CGCTCCACAGCTGGTGACCCGACAGTTCCTGGCTCCTTGTTCAGACAGCTTGTCAGTGAA c.2880
R S T A G D P T V P G S L F R Q L V S E p.960
. . . . . . g.20415
GAAGACAACACGTCTGCACCTTCATTATTCAAACTTGGCTGGCTCTCTAGTATGACTAAG c.2940
E D N T S A P S L F K L G W L S S M T K p.980
g.20418
TAA c.2943
X p.980
. . . . . g.20474
catggcaacacatctgtctctccctaaataaatactaccacattatttcttctaaa c.*56
(downstream sequence)
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