(used for mutation description)
(last modified November 12, 2009)
This file was created to facilitate the description of sequence variants in the COL3A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
(upstream sequence)
. . . . . g.5057
ggctgagttttatgacgggcccggtgctgaagggcagggaacaacttgatggtgcta c.-61
. . . . . . g.5117
ctttgaactgcttttcttttctcctttttgcacaaagagtctcatgtctgatatttagac c.-1
. . . . . . g.5177
ATGATGAGCTTTGTGCAAAAGGGGAGCTGGCTACTTCTCGCTCTGCTTCATCCCACTATT c.60
M M S F V Q K G S W L L L A L L H P T I p.20
. | 02 . . . . g.15428
ATTTTGGCACAACAGGAAG | CTGTTGAAGGAGGATGTTCCCATCTTGGTCAGTCCTATGCG c.120
I L A Q Q E A | V E G G C S H L G Q S Y A p.40
. . . . . . g.15488
GATAGAGATGTCTGGAAGCCAGAACCATGCCAAATATGTGTCTGTGACTCAGGATCCGTT c.180
D R D V W K P E P C Q I C V C D S G S V p.60
. . . . . . g.15548
CTCTGCGATGACATAATATGTGACGATCAAGAATTAGACTGCCCCAACCCAGAAATTCCA c.240
L C D D I I C D D Q E L D C P N P E I P p.80
. . . . | 03 . . g.15842
TTTGGAGAATGTTGTGCAGTTTGCCCACAGCCTCCAACTGCT | CCTACTCGCCCTCCTAAT c.300
F G E C C A V C P Q P P T A | P T R P P N p.100
. . . | 04/05 . . . g.16319
GGTCAAGGACCTCAAGGCCCCAAGGGAGATCCA | GGCCCTCCTGGTATTCCTGGGAGAAAT c.360
G Q G P Q G P K G D P | G P P G I P G R N p.120
. . . . . . g.16379
GGTGACCCTGGTATTCCAGGACAACCAGGGTCCCCTGGTTCTCCTGGCCCCCCTGGAATC c.420
G D P G I P G Q P G S P G S P G P P G I p.140
. . | 06. . . . g.17719
TGTGAATCATGCCCTACTGGTCCTCAG | AACTATTCTCCCCAGTATGATTCATATGATGTC c.480
C E S C P T G P Q | N Y S P Q Y D S Y D V p.160
. . . . | 07 . g.18720
AAGTCTGGAGTAGCAGTAGGAGGACTCGCAGGCTATCCTGGACCAGCT | GGCCCCCCAGGC c.540
K S G V A V G G L A G Y P G P A | G P P G p.180
. . . . | 08 . . g.19235
CCTCCCGGTCCCCCTGGTACATCTGGTCATCCTGGTTCCCCT | GGATCTCCAGGATACCAA c.600
P P G P P G T S G H P G S P | G S P G Y Q p.200
. . . | 09 . . . g.20047
GGACCCCCTGGTGAACCTGGGCAAGCTGGTCCTTCA | GGCCCTCCAGGACCTCCTGGTGCT c.660
G P P G E P G Q A G P S | G P P G P P G A p.220
. . . | 10 . . . g.20753
ATAGGTCCATCTGGTCCTGCTGGAAAAGAT | GGAGAATCAGGTAGACCCGGACGACCTGGA c.720
I G P S G P A G K D | G E S G R P G R P G p.240
. . | 11 . . . . g.20970
GAGCGAGGATTGCCTGGACCTCCA | GGTATCAAAGGTCCAGCTGGGATACCTGGATTCCCT c.780
E R G L P G P P | G I K G P A G I P G F P p.260
. | 12 . . . . g.21673
GGTATGAAAGGACACAGA | GGCTTCGATGGACGAAATGGAGAAAAGGGTGAAACAGGTGCT c.840
G M K G H R | G F D G R N G E K G E T G A p.280
. | 13 . . . . | 14. g.22299
CCTGGATTAAAG | GGTGAAAATGGTCTTCCAGGCGAAAATGGAGCTCCTGGACCCATG | GGT c.900
P G L K | G E N G L P G E N G A P G P M | G p.300
. . . . . | 15 . g.22820
CCAAGAGGGGCTCCTGGTGAGCGAGGACGGCCAGGACTTCCTGGGGCTGCA | GGTGCTCGG c.960
P R G A P G E R G R P G L P G A A | G A R p.320
. . . | 16 . . . g.23538
GGTAATGACGGTGCTCGAGGCAGTGATGGTCAACCA | GGCCCTCCTGGTCCTCCTGGAACT c.1020
G N D G A R G S D G Q P | G P P G P P G T p.340
. . . | 17 . . . g.24018
GCCGGATTCCCTGGATCCCCTGGTGCTAAG | GGTGAAGTTGGACCTGCAGGGTCTCCTGGT c.1080
A G F P G S P G A K | G E V G P A G S P G p.360
. . . . . . g.24078
TCAAATGGTGCCCCTGGACAAAGAGGAGAACCTGGACCTCAGGGACACGCTGGTGCTCAA c.1140
S N G A P G Q R G E P G P Q G H A G A Q p.380
| 18 . . . . | 19 . g.24867
GGTCCTCCT | GGCCCTCCTGGGATTAATGGTAGTCCTGGTGGTAAAGGCGAAATG | GGTCCC c.1200
G P P | G P P G I N G S P G G K G E M | G P p.400
. . . . . . g.24927
GCTGGCATTCCTGGAGCTCCTGGACTGATGGGAGCCCGGGGTCCTCCAGGACCAGCCGGT c.1260
A G I P G A P G L M G A R G P P G P A G p.420
. . . | 20 . . . g.25195
GCTAATGGTGCTCCTGGACTGCGAGGTGGTGCA | GGTGAGCCTGGTAAGAATGGTGCCAAA c.1320
A N G A P G L R G G A | G E P G K N G A K p.440
. . | 21. . . . g.25384
GGAGAGCCCGGACCACGTGGTGAACGC | GGTGAGGCTGGTATTCCAGGTGTTCCAGGAGCT c.1380
G E P G P R G E R | G E A G I P G V P G A p.460
. . . . . . g.25444
AAAGGCGAAGATGGCAAGGATGGATCACCTGGAGAACCTGGTGCAAATGGGCTTCCAGGA c.1440
K G E D G K D G S P G E P G A N G L P G p.480
. | 22 . . . . . g.25718
GCTGCAGGAGAAAGG | GGTGCCCCTGGGTTCCGAGGACCTGCTGGACCAAATGGCATCCCA c.1500
A A G E R | G A P G F R G P A G P N G I P p.500
| 23 . . . . . g.26370
GGAGAAAAG | GGTCCTGCTGGAGAGCGTGGTGCTCCAGGCCCTGCAGGGCCCAGAGGAGCT c.1560
G E K | G P A G E R G A P G P A G P R G A p.520
. . . . | 24 . g.26764
GCTGGAGAACCTGGCAGAGATGGCGTCCCTGGAGGTCCAGGAATGAGG | GGCATGCCCGGA c.1620
A G E P G R D G V P G G P G M R | G M P G p.540
. . . . | 25 . . g.27043
AGTCCAGGAGGACCAGGAAGTGATGGGAAACCAGGGCCTCCC | GGAAGTCAAGGAGAAAGT c.1680
S P G G P G S D G K P G P P | G S Q G E S p.560
. . . . . . g.27103
GGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTC c.1740
G R P G P P G P S G P R G Q P G V M G F p.580
. . | 26 . . . . g.27831
CCCGGTCCTAAAGGAAATGAT | GGTGCTCCTGGTAAGAATGGAGAACGAGGTGGCCCTGGA c.1800
P G P K G N D | G A P G K N G E R G G P G p.600
. | 27 . . . . . g.28008
GGACCTGGCCCTCAG | GGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCA c.1860
G P G P Q | G P P G K N G E T G P Q G P P p.620
| 28 . . . . . g.28378
GGGCCTACT | GGGCCTGGTGGTGACAAAGGAGACACAGGACCCCCTGGTCCACAAGGATTA c.1920
G P T | G P G G D K G D T G P P G P Q G L p.640
| 29 . . . . . | 30. g.29304
CAA | GGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACCTGGGGAACCA | GGT c.1980
Q | G L P G T G G P P G E N G K P G E P | G p.660
. . . . | 31 . . g.29930
CCAAAGGGTGATGCCGGTGCACCTGGAGCTCCAGGAGGCAAG | GGTGATGCTGGTGCCCCT c.2040
P K G D A G A P G A P G G K | G D A G A P p.680
. . . . . . g.29990
GGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCC c.2100
G E R G P P G L A G A P G L R G G A G P p.700
. . | 32 . . . . g.30136
CCTGGTCCCGAAGGAGGAAAG | GGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGT c.2160
P G P E G G K | G A A G P P G P P G A A G p.720
. . . . . . g.30196
ACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAG c.2220
T P G L Q G M P G E R G G L G S P G P K p.740
| 33 . . . . . g.30520
GGTGACAAG | GGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCA c.2280
G D K | G E P G G P G A D G V P G K D G P p.760
| 34 . . . . . | 35. g.32166
AGG | GGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAG | GGT c.2340
R | G P T G P I G P P G P A G Q P G D K | G p.780
. . . . . | 36 . g.32934
GAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCT | GGTGAGAGA c.2400
E G G A P G L P G I A G P R G S P | G E R p.800
. . . . | 37 . . g.33597
GGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCT | GGACAGAATGGTGAA c.2460
G E T G P P G P A G F P G A P | G Q N G E p.820
. . . . . . g.33657
CCTGGTGGTAAAGGAGAAAGAGGGGCTCCGGGTGAGAAAGGTGAAGGAGGCCCTCCTGGA c.2520
P G G K G E R G A P G E K G E G G P P G p.840
. . . | 38 . . . g.34065
GTTGCAGGACCCCCTGGAGGTTCTGGACCTGCT | GGTCCTCCTGGTCCCCAAGGTGTCAAA c.2580
V A G P P G G S G P A | G P P G P Q G V K p.860
. . | 39. . . . g.34394
GGTGAACGTGGCAGTCCTGGTGGACCT | GGTGCTGCTGGCTTCCCTGGTGCTCGTGGTCTT c.2640
G E R G S P G G P | G A A G F P G A R G L p.880
. . | 40 . . . . g.34648
CCTGGTCCTCCTGGTAGTAAT | GGTAACCCAGGACCCCCAGGTCCCAGCGGTTCTCCAGGC c.2700
P G P P G S N | G N P G P P G P S G S P G p.900
. . . . . . g.34708
AAGGATGGGCCCCCAGGTCCTGCGGGTAACACTGGTGCTCCTGGCAGCCCTGGAGTGTCT c.2760
K D G P P G P A G N T G A P G S P G V S p.920
. . . . . . g.34768
GGACCAAAAGGTGATGCTGGCCAACCAGGAGAGAAGGGATCGCCTGGTGCCCAGGGCCCA c.2820
G P K G D A G Q P G E K G S P G A Q G P p.940
| 41 . . . . . . g.34941
CCA | GGAGCTCCAGGCCCACTTGGGATTGCTGGGATCACTGGAGCACGGGGTCTTGCAGGA c.2880
P | G A P G P L G I A G I T G A R G L A G p.960
. . . . . | 42 . g.35986
CCACCAGGCATGCCAGGTCCTAGGGGAAGCCCTGGCCCTCAGGGTGTCAAG | GGTGAAAGT c.2940
P P G M P G P R G S P G P Q G V K | G E S p.980
. . . . . . g.36046
GGGAAACCAGGAGCTAACGGTCTCAGTGGAGAACGTGGTCCCCCTGGACCCCAGGGTCTT c.3000
G K P G A N G L S G E R G P P G P Q G L p.1000
. . . | 43 . . g.36854
CCTGGTCTGGCTGGTACAGCTGGTGAACCTGGAAGAGAT | GGAAACCCTGGATCAGATGGT c.3060
P G L A G T A G E P G R D | G N P G S D G p.1020
. . . | 44 . . . g.36999
CTTCCAGGCCGAGATGGATCTCCTGGTGGCAAG | GGTGATCGTGGTGAAAATGGCTCTCCT c.3120
L P G R D G S P G G K | G D R G E N G S P p.1040
. . . . . . g.37059
GGTGCCCCTGGCGCTCCTGGTCATCCAGGCCCACCTGGTCCTGTCGGTCCAGCTGGAAAG c.3180
G A P G A P G H P G P P G P V G P A G K p.1060
. . | 45 . . . . g.37603
AGTGGTGACAGAGGAGAAAGT | GGCCCTGCTGGCCCTGCTGGTGCTCCCGGTCCTGCTGGT c.3240
S G D R G E S | G P A G P A G A P G P A G p.1080
. | 46 . . . . . g.38172
TCCCGAGGTGCTCCT | GGTCCTCAAGGCCCACGTGGTGACAAAGGTGAAACAGGTGAACGT c.3300
S R G A P | G P Q G P R G D K G E T G E R p.1100
. . . . . . g.38232
GGAGCTGCTGGCATCAAAGGACATCGAGGATTCCCTGGTAATCCAGGTGCCCCAGGTTCT c.3360
G A A G I K G H R G F P G N P G A P G S p.1120
| 47 . . . . . | 48. g.38665
CCA | GGCCCTGCTGGTCAGCAGGGTGCAATCGGCAGTCCAGGACCTGCAGGCCCCAGA | GGA c.3420
P | G P A G Q Q G A I G S P G P A G P R | G p.1140
. . . . . . g.38725
CCTGTTGGACCCAGTGGACCTCCTGGCAAAGATGGAACCAGTGGACATCCAGGTCCCATT c.3480
P V G P S G P P G K D G T S G H P G P I p.1160
. . . . | 49 . . g.39566
GGACCACCAGGGCCTCGAGGTAACAGAGGTGAAAGAGGATCTGAG | GGCTCCCCAGGCCAC c.3540
G P P G P R G N R G E R G S E | G S P G H p.1180
. . . . . . g.39626
CCAGGGCAACCAGGCCCTCCTGGACCTCCTGGTGCCCCTGGTCCTTGCTGTGGTGGTGTT c.3600
P G Q P G P P G P P G A P G P C C G G V p.1200
. . . . . . g.39686
GGAGCCGCTGCCATTGCTGGGATTGGAGGTGAAAAAGCTGGCGGTTTTGCCCCGTATTAT c.3660
G A A A I A G I G G E K A G G F A P Y Y p.1220
. . . . . . g.39746
GGAGATGAACCAATGGATTTCAAAATCAACACCGATGAGATTATGACTTCACTCAAGTCT c.3720
G D E P M D F K I N T D E I M T S L K S p.1240
. . . . . . g.39806
GTTAATGGACAAATAGAAAGCCTCATTAGTCCTGATGGTTCTCGTAAAAACCCCGCTAGA c.3780
V N G Q I E S L I S P D G S R K N P A R p.1260
. . . . | 50 . . g.40822
AACTGCAGAGACCTGAAATTCTGCCATCCTGAACTCAAGAGTG | GAGAATACTGGGTTGAC c.3840
N C R D L K F C H P E L K S G | E Y W V D p.1280
. . . . . . g.40882
CCTAACCAAGGATGCAAATTGGATGCTATCAAGGTATTCTGTAATATGGAAACTGGGGAA c.3900
P N Q G C K L D A I K V F C N M E T G E p.1300
. . . . . . g.40942
ACATGCATAAGTGCCAATCCTTTGAATGTTCCACGGAAACACTGGTGGACAGATTCTAGT c.3960
T C I S A N P L N V P R K H W W T D S S p.1320
. . . . . | 51 . g.41284
GCTGAGAAGAAACACGTTTGGTTTGGAGAGTCCATGGATGGTGGTTTTCAG | TTTAGCTAC c.4020
A E K K H V W F G E S M D G G F Q | F S Y p.1340
. . . . . . g.41344
GGCAATCCTGAACTTCCTGAAGATGTCCTTGATGTGCAGCTGGCATTCCTTCGACTTCTC c.4080
G N P E L P E D V L D V Q L A F L R L L p.1360
. . . . . . g.41404
TCCAGCCGAGCTTCCCAGAACATCACATATCACTGCAAAAATAGCATTGCATACATGGAT c.4140
S S R A S Q N I T Y H C K N S I A Y M D p.1380
. . . . . . g.41464
CAGGCCAGTGGAAATGTAAAGAAGGCCCTGAAGCTGATGGGGTCAAATGAAGGTGAATTC c.4200
Q A S G N V K K A L K L M G S N E G E F p.1400
. . . . . | 52 . g.42261
AAGGCTGAAGGAAATAGCAAATTCACCTACACAGTTCTGGAGGATGGTTGCACG | AAACAC c.4260
K A E G N S K F T Y T V L E D G C T | K H p.1420
. . . . . . g.42321
ACTGGGGAATGGAGCAAAACAGTCTTTGAATATCGAACACGCAAGGCTGTGAGACTACCT c.4320
T G E W S K T V F E Y R T R K A V R L P p.1440
. . . . . . g.42381
ATTGTAGATATTGCACCCTATGACATTGGTGGTCCTGATCAAGAATTTGGTGTGGACGTT c.4380
I V D I A P Y D I G G P D Q E F G V D V p.1460
. . g.42402
GGCCCTGTTTGCTTTTTATAA c.4401
G P V C F L X p.1466
. . . . . . g.42462
accaaactctatctgaaatcccaacaaaaaaaatttaactccatatgtgttcctcttgtt c.*60
. . . . . . g.42522
ctaatcttgtcaaccagtgcaagtgaccgacaaaattccagttatttatttccaaaatgt c.*120
. . . . . . g.42582
ttggaaacagtataatttgacaaagaaaaatgatacttctctttttttgctgttccacca c.*180
. . . . . . g.42642
aatacaattcaaatgctttttgttttatttttttaccaattccaatttcaaaatgtctca c.*240
. . . . . . g.42702
atggtgctataataaataaacttcaacactctttatgataacaacactgtgttatattct c.*300
. . . . . . g.42762
ttgaatcctagcccatctgcagagcaatgactgtgctcaccagtaaaagataacctttct c.*360
. . . . . . g.42822
ttctgaaatagtcaaatacgaaattagaaaagccctccctattttaactacctcaactgg c.*420
. . . . . . g.42882
tcagaaacacagattgtattctatgagtcccagaagatgaaaaaaattttatacgttgat c.*480
. . . . . . g.42942
aaaacttataaatttcattgattaatctcctggaagattggtttaaaaagaaaagtgtaa c.*540
. . . . . . g.43002
tgcaagaatttaaagaaatatttttaaagccacaattattttaatattggatatcaactg c.*600
. . . . . . g.43062
cttgtaaaggtgctcctcttttttcttgtcattgctggtcaagattactaatatttggga c.*660
. . . . . . g.43122
aggctttaaagacgcatgttatggtgctaatgtactttcacttttaaactctagatcaga c.*720
. . . . . . g.43182
attgttgacttgcattcagaacataaatgcacaaaatctgtacatgtctcccatcagaaa c.*780
. . . . . . g.43242
gattcattggcatgccacaggggattctcctccttcatcctgtaaaggtcaacaataaaa c.*840
. . . . . . g.43302
accaaattatggggctgcttttgtcacactagcatagagaatgtgttgaaatttaacttt c.*900
. . . . . . g.43362
gtaagcttgtatgtggttgttgatcttttttttccttacagacacccataataaaatatc c.*960
. g.43374
atattaaaattc c.*972
(downstream sequence)
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