(used for mutation description)
(last modified April 9, 2010)
This file was created to facilitate the description of sequence variants in the COL6A2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008675.1, covering COL6A2 transcript variant-1 (NM_001849.3). Transcript variants-2C2a' (NM_058175.2) and -2C2a (NM_058174.2) contain alternative 3'-terminal exons 28b and 28c (exon 28c starting in exon 28b and using the same polyA-addition site) in intron 27.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . g.5022
gcttactcggcgcccgcgcctc c.-61
. . . . | 02 . . g.18358
gggccgtcgggagcggagcctcctcgggaccag | gacttcagggccacaggtgctgccaag c.-1
. . . . . . g.18418
ATGCTCCAGGGCACCTGCTCCGTGCTCCTGCTCTGGGGAATCCTGGGGGCCATCCAGGCC c.60
M L Q G T C S V L L L W G I L G A I Q A p.20
. . . . . | 03 . g.18865
CAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAGAGAAACAACAACTGCCCAG | AGAAG c.120
Q Q Q E V I S P D T T E R N N N C P E | K p.40
. . . . . . g.18925
ACCGACTGCCCCATCCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCATGCAG c.180
T D C P I H V Y F V L D T S E S V T M Q p.60
. . . . . . g.18985
TCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAG c.240
S P T D I L L F H M K Q F V P Q F I S Q p.80
. . . . . . g.19045
CTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCAC c.300
L Q N E F Y L D Q V A L S W R Y G G L H p.100
. . . . . . g.19105
TTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAG c.360
F S D Q V E V F S P P G S D R A S F I K p.120
. . . . . . g.19165
AACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAAC c.420
N L Q G I S S F R R G T F T D C A L A N p.140
. . . . . . g.19225
ATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTGGTCATC c.480
M T E Q I R Q D R S K G T V H F A V V I p.160
. . . . . . g.19285
ACCGACGGCCACGTCACCGGCAGCCCCTGCGGGGGCATCAAGCTGCAGGCCGAGCGGGCC c.540
T D G H V T G S P C G G I K L Q A E R A p.180
. . . . . . g.19345
CGCGAGGAGGGCATCCGGCTCTTCGCCGTGGCCCCCAACCAGAACCTGAAGGAGCAGGGC c.600
R E E G I R L F A V A P N Q N L K E Q G p.200
. . . . . . g.19405
CTGCGGGACATCGCCAGCACGCCGCACGAGCTCTACCGCAACGACTACGCCACCATGCTG c.660
L R D I A S T P H E L Y R N D Y A T M L p.220
. . . . . | 04 . g.19691
CCCGACTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCAAGGTCATG | AAACAC c.720
P D S T E I D Q D T I N R I I K V M | K H p.240
. | 05 . . . . . g.20934
GAAGCCTACGGAGAG | TGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCC c.780
E A Y G E | C Y K V S C L E I P G P S G P p.260
. . | 06 . . . . g.22792
AAGGGCTACCGTGGACAGAAG | GGTGCCAAGGGCAACATGGGTGAGCCGGGAGAGCCTGGC c.840
K G Y R G Q K | G A K G N M G E P G E P G p.280
. | 07 . . . . . g.22935
CAGAAGGGAAGACAG | GGAGACCCGGGCATCGAAGGCCCCATTGGATTCCCAGGACCCAAG c.900
Q K G R Q | G D P G I E G P I G F P G P K p.300
| 08 . . | 09. . . | 10 . g.23657
| GGCGTTCCTGGCTTCAAAGGAGAGAAG | GGTGAATTTGGAGCCGACGGTCGCAAG | GGGGCC c.960
| G V P G F K G E K | G E F G A D G R K | G A p.320
. . . | 11 . . g.24302
CCTGGCCTGGCTGGCAAGAACGGGACCGATGGACAGAAG | GGCAAGCTGGGGCGCATCGGA c.1020
P G L A G K N G T D G Q K | G K L G R I G p.340
. . . | 12 . . . g.24782
CCTCCTGGCTGCAAGGGAGACCCTGGAAACCGG | GGCCCCGACGGTTACCCGGGGGAAGCA c.1080
P P G C K G D P G N R | G P D G Y P G E A p.360
. . . | 13 . . . g.25519
GGGAGTCCAGGGGAGCGAGGAGACCAAGGCGGCAAG | GGGGACCCTGGCCGCCCAGGACGC c.1140
G S P G E R G D Q G G K | G D P G R P G R p.380
. . . | 14 . . g.25932
AGAGGGCCCCCGGGAGAAATCGGGGCCAAGGGAAGCAAG | GGGTATCAAGGCAACAGTGGA c.1200
R G P P G E I G A K G S K | G Y Q G N S G p.400
. . . . . . g.25992
GCCCCAGGAAGTCCTGGTGTGAAAGGAGCCAAGGGCGGGCCTGGGCCCCGCGGACCCAAA c.1260
A P G S P G V K G A K G G P G P R G P K p.420
| 15 . . . . . g.26720
GGCGAGCCG | GGGCGCAGGGGAGACCCCGGCACCAAGGGCAGCCCAGGCAGCGATGGCCCC c.1320
G E P | G R R G D P G T K G S P G S D G P p.440
. | 16 . . . . . g.27444
AAGGGGGAGAAG | GGGGACCCTGGCCCTGAGGGGCCCCGCGGCCTGGCTGGAGAGGTTGGC c.1380
K G E K | G D P G P E G P R G L A G E V G p.460
. | 17 . . . . . g.27987
AACAAAGGAGCCAAG | GGAGACCGAGGCTTGCCTGGACCCAGAGGCCCCCAGGGAGCTCTT c.1440
N K G A K | G D R G L P G P R G P Q G A L p.480
. | 18 . . . . g.28479
GGGGAGCCCGGAAAGCAG | GGATCTCGGGGAGACCCCGGTGATGCAGGACCCCGTGGAGAC c.1500
G E P G K Q | G S R G D P G D A G P R G D p.500
. . | 19 . . . . g.29028
TCAGGACAGCCAGGCCCCAAG | GGAGACCCCGGCAGGCCTGGATTCAGCTACCCAGGACCC c.1560
S G Q P G P K | G D P G R P G F S Y P G P p.520
. | 20 . . . | 21 . g.29768
CGAGGAGCACCC | GGAGAAAAAGGCGAGCCCGGCCCACGCGGCCCCGAG | GGAGGCCGAGGC c.1620
R G A P | G E K G E P G P R G P E | G G R G p.540
. . . . . | 22 . g.31541
GACTTTGGCTTGAAAGGAGAACCTGGGAGGAAAGGAGAGAAAGGAGAGCCT | GCGGATCCT c.1680
D F G L K G E P G R K G E K G E P | A D P p.560
. . . . . | 23 . g.31772
GGTCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCCCAGGACCCGAG | GGTGAG c.1740
G P P G E P G P R G P R G V P G P E | G E p.580
. . . | 24 . . . g.32177
CCCGGCCCCCCTGGAGACCCCGGTCTCACG | GAGTGTGACGTCATGACCTACGTGAGGGAG c.1800
P G P P G D P G L T | E C D V M T Y V R E p.600
. | 25 . . . . . g.32390
ACCTGCGGGTGCTGCG | ACTGTGAGAAGCGCTGTGGCGCCCTGGACGTGGTCTTCGTCATC c.1860
T C G C C D | C E K R C G A L D V V F V I p.620
. . . . . . g.32450
GACAGCTCCGAGAGCATTGGGTACACCAACTTCACACTGGAGAAGAACTTCGTCATCAAC c.1920
D S S E S I G Y T N F T L E K N F V I N p.640
. . . . | 26 . g.32677
GTGGTCAACAGGCTGGGTGCCATCGCTAAGGACCCCAAGTCCGAGACAG | GGACGCGTGTG c.1980
V V N R L G A I A K D P K S E T G | T R V p.660
. . . . . . g.32737
GGCGTGGTGCAGTACAGCCACGAGGGCACCTTTGAGGCCATCCAGCTGGACGACGAACGT c.2040
G V V Q Y S H E G T F E A I Q L D D E R p.680
. . . . . . g.32797
ATCGACTCCCTGTCGAGCTTCAAGGAGGCTGTCAAGAACCTCGAGTGGATTGCGGGCGGC c.2100
I D S L S S F K E A V K N L E W I A G G p.700
. . . . . . g.32857
ACCTGGACACCCTCAGCCCTCAAGTTTGCCTACGACCGCCTCATCAAGGAGAGCCGGCGC c.2160
T W T P S A L K F A Y D R L I K E S R R p.720
. . . . . . g.32917
CAGAAGACACGTGTGTTTGCGGTGGTCATCACGGACGGGCGCCACGACCCTCGGGACGAT c.2220
Q K T R V F A V V I T D G R H D P R D D p.740
. . . . . . g.32977
GACCTCAACTTGCGGGCGCTGTGCGACCGCGACGTCACAGTGACGGCCATCGGCATCGGG c.2280
D L N L R A L C D R D V T V T A I G I G p.760
. . . . . . g.33037
GACATGTTCCACGAGAAGCACGAGAGTGAAAACCTCTACTCCATCGCCTGCGACAAGCCA c.2340
D M F H E K H E S E N L Y S I A C D K P p.780
. . . . . . g.33097
CAGCAGGTGCGCAACATGACGCTGTTCTCCGACCTGGTCGCTGAGAAGTTCATCGATGAC c.2400
Q Q V R N M T L F S D L V A E K F I D D p.800
. . | 27 . . . . g.33422
ATGGAGGACGTCCTCTGCCCGG | ACCCTCAGATCGTGTGCCCAGACCTTCCCTGCCAAACA c.2460
M E D V L C P D | P Q I V C P D L P C Q T p.820
| 28 . . . . . . g.38894
G | AGCTGTCCGTGGCACAGTGCACGCAGCGGCCCGTGGACATCGTCTTCCTGCTGGACGGC c.2520
E | L S V A Q C T Q R P V D I V F L L D G p.840
. . . . . . g.38954
TCCGAGCGGCTGGGTGAGCAGAACTTCCACAAGGCCCGGCGCTTCGTGGAGCAGGTGGCG c.2580
S E R L G E Q N F H K A R R F V E Q V A p.860
. . . . . . g.39014
CGGCGGCTGACGCTGGCCCGGAGGGACGACGACCCTCTCAACGCACGCGTGGCGCTGCTG c.2640
R R L T L A R R D D D P L N A R V A L L p.880
. . . . . . g.39074
CAGTTTGGTGGCCCCGGCGAGCAGCAGGTGGCCTTCCCGCTGAGCCACAACCTCACGGCC c.2700
Q F G G P G E Q Q V A F P L S H N L T A p.900
. . . . . . g.39134
ATCCACGAGGCGCTGGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCGCAGGC c.2760
I H E A L E T T Q Y L N S F S H V G A G p.920
. . . . . . g.39194
GTGGTGCACGCCATCAATGCCATCGTGCGCAGCCCGCGTGGCGGGGCCCGGAGGCACGCA c.2820
V V H A I N A I V R S P R G G A R R H A p.940
. . . . . . g.39254
GAGCTGTCCTTCGTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCACGAGTCG c.2880
E L S F V F L T D G V T G N D S L H E S p.960
. . . . . . g.39314
GCGCACTCCATGCGCAAGCAGAACGTGGTACCCACCGTGCTGGCCTTGGGCAGCGACGTG c.2940
A H S M R K Q N V V P T V L A L G S D V p.980
. . . . . . g.39374
GACATGGACGTGCTCACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAGAAG c.3000
D M D V L T T L S L G D R A A V F H E K p.1000
. . . . . . g.39434
GACTATGACAGCCTGGCGCAACCCGGCTTCTTCGACCGCTTCATCCGCTGGATCTGCTAG c.3060
D Y D S L A Q P G F F D R F I R W I C X p.1019
. . . . . . g.39494
cgccgccgcccgggccccgcagtcgagggtcgtgagcccaccccgtccatggtgctaagc c.*60
. . . . . . g.39554
gggcccgggtcccacacggccagcaccgctgctcactcggacgacgccctgggcctgcac c.*120
. . . . . . g.39614
ctctccagctcctcccacggggtccccgtagccccggcccccgcccagccccaggtctcc c.*180
. . . . . . g.39674
ccaggccctccgcaggctgcccggcctccctccccctgcagccatcccaaggctcctgac c.*240
. . . . . g.39731
ctacctggcccctgagctctggagcaagccctgacccaataaaggctttgaacccat c.*297
(downstream sequence)
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