(used for mutation description)
(last modified April 9, 2010)
This file was created to facilitate the description of sequence variants in the COL6A1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008674.1, covering COL6A1 transcript NM_001848.2.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.5042
gctctcactctggctgggagcagaaggcagcctcggtctctg c.-61
. . . . . . g.5102
ggcggcggcggcggcccactctgccctggccgcgctgtgtggtgaccgcaggccccagac c.-1
. . . . . . g.5162
ATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAG c.60
M R A A R A L L P L L L Q A C W T A A Q p.20
. . . | 02. . . g.5908
GATGAGCCGGAGACCCCGAGGGCCGTGGCCTTCCAGG | ACTGCCCCGTGGACCTGTTCTTT c.120
D E P E T P R A V A F Q D | C P V D L F F p.40
. . . . . . g.5968
GTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGAC c.180
V L D T S E S V A L R L K P Y G A L V D p.60
. . . . | 03. . g.7533
AAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAG | GTACTACCGCTGT c.240
K V K S F T K R F I D N L R D R | Y Y R C p.80
. . . . . . g.7593
GACCGAAACCTGGTGTGGAACGCAGGCGCGCTGCACTACAGTGACGAGGTGGAGATCATC c.300
D R N L V W N A G A L H Y S D E V E I I p.100
. . . . . . g.7653
CAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCGTGGACGCGGTC c.360
Q G L T R M P G G R D A L K S S V D A V p.120
. . . . . . g.7713
AAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTC c.420
K Y F G K G T Y T D C A I K K G L E Q L p.140
| 04 . . . . . g.9829
CTCGTGGG | GGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCAC c.480
L V G | G S H L K E N K Y L I V V T D G H p.160
. . . . . . g.9889
CCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAG c.540
P L E G Y K E P C G G L E D A V N E A K p.180
. . . . | 05 . g.10207
CACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTG | GAGCCGCGTCTG c.600
H L G V K V F S V A I T P D H L | E P R L p.200
. . . . . . g.10267
AGCATCATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAG c.660
S I I A T D H T Y R R N F T A A D W G Q p.220
. . . . . | 06. g.10409
AGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATC | AAA c.720
S R D A E E A I S Q T I D T I V D M I | K p.240
. | 07 . | 08 . . g.10882
AATAACGTGGAGCAAGTG | TGCTGCTCCTTCGAATGCCAG | CCTGCAAGAGGACCTCCGGGG c.780
N N V E Q V | C C S F E C Q | P A R G P P G p.260
. . | 09 . . . . g.12371
CTCCGGGGCGACCCCGGCTTTGAG | GGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAG c.840
L R G D P G F E | G E R G K P G L P G E K p.280
. | 10 . . . . g.12901
GGAGAAGCCGGAGATCCT | GGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATG c.900
G E A G D P | G R P G D L G P V G Y Q G M p.300
| 11 . . . | 12 . . | 13. g.13632
AAG | GGAGAAAAAGGGAGCCGTGGGGAGAAG | GGCTCCAGGGGACCCAAGGGCTACAAG | GGA c.960
K | G E K G S R G E K | G S R G P K G Y K | G p.320
. . . . | 14 . . g.14042
GAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAG | GGGGAGATGGGGTACCCA c.1020
E K G K R G I D G V D G V K | G E M G Y P p.340
. . . | 15 . . . g.14254
GGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGAC | GGCATTCAAGGACCCCCTGGCCCC c.1080
G L P G C K G S P G F D | G I Q G P P G P p.360
. . . | 16 . . g.15282
AAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAG | GGCGAGCCTGGAGCTGACGGG c.1140
K G D P G A F G L K G E K | G E P G A D G p.380
. . . . | 17 . . g.15433
GAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAG | GGCCAGCCGGGAGAGCCT c.1200
E A G R P G S S G P S G D E | G Q P G E P p.400
. . . | 18 . . . g.15638
GGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAG | GGGAACCCAGGACCTGACGGTGCC c.1260
G P P G E K G E A G D E | G N P G P D G A p.420
. | 19 . . . . . g.16047
CCCGGGGAGCGG | GGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGA c.1320
P G E R | G G P G E R G P R G T P G T R G p.440
. | 20 . . . . . g.17463
CCAAGAGGAGACCCT | GGTGAAGCTGGCCCGCAGGGTGATCAGGGAAGAGAAGGCCCCGTT c.1380
P R G D P | G E A G P Q G D Q G R E G P V p.460
. | 21 . . . . g.20714
GGTGTCCCTGGAGACCCG | GGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGAT c.1440
G V P G D P | G E A G P I G P K G Y R G D p.480
. . | 22 . . . . g.20990
GAGGGTCCCCCAGGGTCCGAG | GGTGCCAGAGGAGCCCCAGGACCTGCCGGACCCCCTGGA c.1500
E G P P G S E | G A R G A P G P A G P P G p.500
. . | 23 . . . . g.21408
GACCCGGGGCTGATGGGTGAAAGG | GGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGC c.1560
D P G L M G E R | G E D G P A G N G T E G p.520
. | 24 . . . . | 25 . g.22157
TTCCCCGGCTTCCCC | GGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAAC | GGCACGAAG c.1620
F P G F P | G Y P G N R G A P G I N | G T K p.540
. . . . . | 26 . g.22410
GGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGACCCCGGAGACGAT | AACAAC c.1680
G Y P G L K G D E G E A G D P G D D | N N p.560
. . . . . . g.22470
GACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAG c.1740
D I A P R G V K G A K G Y R G P E G P Q p.580
| 27 . . . | 28 . . . g.23606
| GGACCCCCAGGACACCAAGGACCGCCTGGGCCGGAC | GAATGCGAGATTTTGGACATCATC c.1800
| G P P G H Q G P P G P D | E C E I L D I I p.600
. | 29 . | 30 . . . . g.24542
ATGAAAATGTGCT | CTTGCTGTG | AATGCAAGTGCGGCCCCATCGACCTCCTGTTCGTGCTG c.1860
M K M C S | C C E | C K C G P I D L L F V L p.620
. . . . . . g.24602
GACAGCTCAGAGAGCATTGGCCTGCAGAACTTCGAGATTGCCAAGGACTTCGTCGTCAAG c.1920
D S S E S I G L Q N F E I A K D F V V K p.640
. . . | 31 . . . g.25236
GTCATCGACCGGCTGAGCCGGGACGAGCTGGTCAAG | TTCGAGCCAGGGCAGTCGTACGCG c.1980
V I D R L S R D E L V K | F E P G Q S Y A p.660
. . . . . . g.25296
GGTGTGGTGCAGTACAGCCACAGCCAGATGCAGGAGCACGTGAGCCTGCGCAGCCCCAGC c.2040
G V V Q Y S H S Q M Q E H V S L R S P S p.680
. . | 32 . . . . g.25503
ATCCGGAACGTGCAGGAGCTCAAGGA | AGCCATCAAGAGCCTGCAGTGGATGGCGGGCGGC c.2100
I R N V Q E L K E | A I K S L Q W M A G G p.700
. . . . . . g.25563
ACCTTCACGGGGGAGGCCCTGCAGTACACGCGGGACCAGCTGCTGCCGCCCAGCCCGAAC c.2160
T F T G E A L Q Y T R D Q L L P P S P N p.720
. . . . . . g.25623
AACCGCATCGCCCTGGTCATCACTGACGGGCGCTCAGACACTCAGAGGGACACCACACCG c.2220
N R I A L V I T D G R S D T Q R D T T P p.740
. . . | 33 . . . g.25808
CTCAACGTGCTCTGCAGCCCCGGCATCCAG | GTGGTCTCCGTGGGCATCAAAGACGTGTTT c.2280
L N V L C S P G I Q | V V S V G I K D V F p.760
. . . . . . g.25868
GACTTCATCCCAGGCTCAGACCAGCTCAATGTCATTTCTTGCCAAGGCCTGGCACCATCC c.2340
D F I P G S D Q L N V I S C Q G L A P S p.780
. . . . . . g.25928
CAGGGCCGGCCCGGCCTCTCGCTGGTCAAGGAGAACTATGCAGAGCTGCTGGAGGATGCC c.2400
Q G R P G L S L V K E N Y A E L L E D A p.800
. . . | 34 . . . g.26397
TTCCTGAAGAATGTCACCGCCCAGATCTGCATAG | ACAAGAAGTGTCCAGATTACACCTGC c.2460
F L K N V T A Q I C I D | K K C P D Y T C p.820
| 35 . . . . . . g.26698
CCCA | TCACGTTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACGGCTCCGCCAGCGTG c.2520
P I | T F S S P A D I T I L L D G S A S V p.840
. . . . . . g.26758
GGCAGCCACAACTTTGACACCACCAAGCGCTTCGCCAAGCGCCTGGCCGAGCGCTTCCTC c.2580
G S H N F D T T K R F A K R L A E R F L p.860
. . . . . . g.26818
ACAGCGGGCAGGACGGACCCCGCCCACGACGTGCGGGTGGCGGTGGTGCAGTACAGCGGC c.2640
T A G R T D P A H D V R V A V V Q Y S G p.880
. . . . . . g.26878
ACGGGCCAGCAGCGCCCAGAGCGGGCGTCGCTGCAGTTCCTGCAGAACTACACGGCCCTG c.2700
T G Q Q R P E R A S L Q F L Q N Y T A L p.900
. . . . . . g.26938
GCCAGTGCCGTCGATGCCATGGACTTTATCAACGACGCCACCGACGTCAACGATGCCCTG c.2760
A S A V D A M D F I N D A T D V N D A L p.920
. . . . . . g.26998
GGCTATGTGACCCGCTTCTACCGCGAGGCCTCGTCCGGCGCTGCCAAGAAGAGGCTGCTG c.2820
G Y V T R F Y R E A S S G A A K K R L L p.940
. . . . . . g.27058
CTCTTCTCAGATGGCAACTCGCAGGGCGCCACGCCCGCTGCCATCGAGAAGGCCGTGCAG c.2880
L F S D G N S Q G A T P A A I E K A V Q p.960
. . . . . . g.27118
GAAGCCCAGCGGGCAGGCATCGAGATCTTCGTGGTGGTCGTGGGCCGCCAGGTGAATGAG c.2940
E A Q R A G I E I F V V V V G R Q V N E p.980
. . . . . . g.27178
CCCCACATCCGCGTCCTGGTCACCGGCAAGACGGCCGAGTACGACGTGGCCTACGGCGAG c.3000
P H I R V L V T G K T A E Y D V A Y G E p.1000
. . . . . . g.27238
AGCCACCTGTTCCGTGTCCCCAGCTACCAGGCCCTGCTCCGCGGTGTCTTCCACCAGACA c.3060
S H L F R V P S Y Q A L L R G V F H Q T p.1020
. . g.27265
GTCTCCAGGAAGGTGGCGCTGGGCTAG c.3087
V S R K V A L G X p.1028
. . . . . . g.27325
cccaccctgcacgccggcaccaaaccctgtcctcccacccctccccactcatcactaaac c.*60
. . . . . . g.27385
agagtaaaatgtgatgcgaattttcccgaccaacctgattcgctagattttttttaagga c.*120
. . . . . . g.27445
aaagcttggaaagccaggacacaacgctgctgcctgctttgtgcagggtcctccggggct c.*180
. . . . . . g.27505
cagccctgagttggcatcacctgcgcagggccctctggggctcagccctgagctagtgtc c.*240
. . . . . . g.27565
acctgcacagggccctctgaggctcagccctgagctggcgtcacctgtgcagggccctct c.*300
. . . . . . g.27625
ggggctcagccctgagctggcctcacctgggttccccaccccgggctctcctgccctgcc c.*360
. . . . . . g.27685
ctcctgcccgccctccctcctgcctgcgcagctccttccctaggcacctctgtgctgcat c.*420
. . . . . . g.27745
cccaccagcctgagcaagacgccctctcggggcctgtgccgcactagcctccctctcctc c.*480
. . . . . . g.27805
tgtccccatagctggtttttcccaccaatcctcacctaacagttactttacaattaaact c.*540
. . . . . . g.27865
caaagcaagctcttctcctcagcttggggcagccattggcctctgtctcgttttgggaaa c.*600
. . . . . . g.27925
ccaaggtcaggaggccgttgcagacataaatctcggcgactcggccccgtctcctgaggg c.*660
. . . . . . g.27985
tcctgctggtgaccggcctggaccttggccctacagccctggaggccgctgctgaccagc c.*720
. . . . . . g.28045
actgaccccgacctcagagagtactcgcaggggcgctggctgcactcaagaccctcgaga c.*780
. . . . . . g.28105
ttaacggtgctaaccccgtctgctcctccctcccgcagagactggggcctggactggaca c.*840
. . . . . . g.28165
tgagagccccttggtgccacagagggctgtgtcttactagaaacaacgcaaacctctcct c.*900
. . . . . . g.28225
tcctcagaatagtgatgtgttcgacgttttatcaaaggccccctttctatgttcatgtta c.*960
. . . . . . g.28285
gttttgctccttctgtgtttttttctgaaccatatccatgttgctgacttttccaaataa c.*1020
. g.28301
aggttttcactcctct c.*1036
(downstream sequence)
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