(used for mutation description)
(last modified April 30, 2014)
This file was created to facilitate the description of sequence variants in the C7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering C7 transcript NM_000587.2.
(upstream sequence)
. . . . . g.12071
agggagaggcagagaggcaggcagcctgctgggctcttcctgctgttgaaaact c.-61
. . . . . . g.12131
tacccggcccttacagaggaaatcttcctcctctcttctgccctgaatgttttcccaaac c.-1
| 02 . . . . . . g.31154
ATGAAG | GTGATAAGCTTATTCATTTTGGTGGGATTTATAGGAGAGTTCCAAAGTTTTTCA c.60
M K | V I S L F I L V G F I G E F Q S F S p.20
| 03 . . . . . . g.33642
AG | TGCCTCCTCTCCAGTCAACTGCCAGTGGGACTTCTATGCCCCTTGGTCAGAATGCAAT c.120
S | A S S P V N C Q W D F Y A P W S E C N p.40
. | 04 . . . . g.36887
GGCTGTACCAAGACTCAG | ACTCGCAGGCGGTCAGTTGCTGTGTATGGGCAGTATGGAGGC c.180
G C T K T Q | T R R R S V A V Y G Q Y G G p.60
. . . . . . g.36947
CAGCCTTGTGTTGGAAATGCTTTTGAAACACAGTCCTGTGAACCTACAAGAGGATGTCCA c.240
Q P C V G N A F E T Q S C E P T R G C P p.80
. . . . | 05 . . g.38878
ACAGAGGAGGGATGTGGAGAGCGTTTCAGGTGCTTTTCAG | GTCAGTGCATCAGCAAATCA c.300
T E E G C G E R F R C F S G | Q C I S K S p.100
. . . . . . g.38938
TTGGTTTGCAATGGGGATTCTGACTGTGATGAAGACAGTGCTGATGAAGACAGATGTGAG c.360
L V C N G D S D C D E D S A D E D R C E p.120
. . . . . . g.38998
GACTCAGAAAGGAGACCTTCCTGTGATATCGATAAACCTCCTCCTAACATAGAACTTACT c.420
D S E R R P S C D I D K P P P N I E L T p.140
| 06 . . . . . g.40124
GGAAATGG | TTACAATGAACTCACTGGCCAGTTTAGGAACAGAGTCATCAATACCAAAAGT c.480
G N G | Y N E L T G Q F R N R V I N T K S p.160
. . . . . . g.40184
TTTGGTGGTCAATGTAGAAAGGTGTTTAGTGGGGATGGAAAAGATTTCTACAGGCTGAGT c.540
F G G Q C R K V F S G D G K D F Y R L S p.180
. . | 07. . . . g.47751
GGAAATGTCCTGTCCTATACATTCCAG | GTGAAAATAAATAATGATTTTAATTATGAATTT c.600
G N V L S Y T F Q | V K I N N D F N Y E F p.200
. . . . . . g.47811
TACAATAGTACTTGGTCTTATGTAAAACATACGTCGACAGAACACACATCATCTAGTCGG c.660
Y N S T W S Y V K H T S T E H T S S S R p.220
. . . . . . g.47871
AAGCGCTCCTTTTTTAGATCTTCATCATCTTCTTCACGCAGTTATACTTCACATACCAAT c.720
K R S F F R S S S S S S R S Y T S H T N p.240
. | 08 . . . . g.50164
GAAATCCATAAAGGAAAG | AGTTACCAACTGCTGGTTGTTGAGAACACTGTTGAAGTGGCT c.780
E I H K G K | S Y Q L L V V E N T V E V A p.260
. . . . . . g.50224
CAGTTCATTAATAACAATCCAGAATTTTTACAACTTGCTGAGCCATTCTGGAAGGAGCTT c.840
Q F I N N N P E F L Q L A E P F W K E L p.280
. . . . . . g.50284
TCCCACCTCCCCTCTCTGTATGACTACAGTGCCTACCGAAGATTAATCGACCAGTACGGG c.900
S H L P S L Y D Y S A Y R R L I D Q Y G p.300
. . . . . . g.50344
ACACATTATCTGCAATCTGGGTCGTTAGGAGGAGAATACAGAGTTCTATTTTATGTGGAC c.960
T H Y L Q S G S L G G E Y R V L F Y V D p.320
. . | 09 . . . . g.52462
TCAGAAAAATTAAAACAAAATG | ATTTTAATTCAGTCGAAGAAAAGAAATGTAAATCCTCA c.1020
S E K L K Q N D | F N S V E E K K C K S S p.340
. . . . . . g.52522
GGTTGGCATTTTGTCGTTAAATTTTCAAGTCATGGATGCAAGGAACTGGAAAACGCTTTA c.1080
G W H F V V K F S S H G C K E L E N A L p.360
. | 10 . . . . . g.57954
AAAGCTGCTTCAG | GAACCCAGAACAATGTATTGCGAGGAGAACCGTTCATCAGAGGGGGA c.1140
K A A S G | T Q N N V L R G E P F I R G G p.380
. . . . . . g.58014
GGTGCAGGCTTCATATCTGGCCTTAGTTACCTAGAGCTGGACAATCCTGCTGGAAACAAA c.1200
G A G F I S G L S Y L E L D N P A G N K p.400
. . . . . . g.58074
AGGCGATATTCTGCCTGGGCAGAATCTGTGACTAATCTTCCTCAAGTCATAAAACAAAAG c.1260
R R Y S A W A E S V T N L P Q V I K Q K p.420
| 11 . . . . . . g.60613
| CTGACACCTTTATATGAGCTGGTAAAGGAAGTACCTTGTGCCTCTGTGAAAAAACTATAC c.1320
| L T P L Y E L V K E V P C A S V K K L Y p.440
. . . . . . g.60673
CTGAAATGGGCTCTTGAAGAGTATCTGGATGAATTTGACCCCTGTCATTGCCGGCCTTGT c.1380
L K W A L E E Y L D E F D P C H C R P C p.460
. . . . . . g.60733
CAAAATGGTGGTTTGGCTACTGTTGAGGGGACCCATTGTCTGTGCCATTGCAAACCGTAC c.1440
Q N G G L A T V E G T H C L C H C K P Y p.480
. . . . | 12 . g.61980
ACATTTGGTGCGGCGTGTGAGCAAGGAGTCCTCGTAGGGAATCAAGCAG | GAGGGGTTGAT c.1500
T F G A A C E Q G V L V G N Q A G | G V D p.500
. . . . . . g.62040
GGAGGTTGGAGTTGCTGGTCCTCTTGGAGCCCCTGTGTCCAAGGGAAGAAAACAAGAAGC c.1560
G G W S C W S S W S P C V Q G K K T R S p.520
. . . . . . g.62100
CGTGAATGCAATAACCCACCTCCCAGTGGGGGTGGGAGATCCTGCGTTGGAGAAACGACA c.1620
R E C N N P P P S G G G R S C V G E T T p.540
. . . . | 13 . . g.64624
GAAAGCACACAATGCGAAGATGAGGAGCTGGAGCACTTGAG | GTTGCTTGAACCACATTGC c.1680
E S T Q C E D E E L E H L R | L L E P H C p.560
. . . . . . g.64684
TTTCCTTTGTCTTTGGTTCCAACAGAATTCTGTCCATCACCTCCTGCCTTGAAAGATGGA c.1740
F P L S L V P T E F C P S P P A L K D G p.580
| 14 . . . . . g.67312
TTTGTTCAA | GATGAAGGTACAATGTTTCCTGTGGGGAAAAATGTAGTGTACACTTGCAAT c.1800
F V Q | D E G T M F P V G K N V V Y T C N p.600
. . . . . . g.67372
GAAGGATACTCTCTTATTGGAAACCCAGTGGCCAGATGTGGAGAAGATTTACGGTGGCTT c.1860
E G Y S L I G N P V A R C G E D L R W L p.620
. . | 15 . . . . g.74961
GTTGGGGAAATGCATTGTCAGA | AAATTGCCTGTGTTCTACCTGTACTGATGGATGGCATA c.1920
V G E M H C Q K | I A C V L P V L M D G I p.640
. . . . . . g.75021
CAGAGTCACCCCCAAAAACCTTTCTACACAGTTGGTGAGAAGGTGACTGTTTCCTGTTCA c.1980
Q S H P Q K P F Y T V G E K V T V S C S p.660
. . . . . . g.75081
GGTGGCATGTCCTTAGAAGGTCCTTCAGCATTTCTCTGTGGCTCCAGCCTTAAGTGGAGT c.2040
G G M S L E G P S A F L C G S S L K W S p.680
. . . | 16 . . . g.79296
CCTGAGATGAAGAATGCCCGCTGTGTACAAAAAG | AAAATCCGTTAACACAGGCAGTGCCT c.2100
P E M K N A R C V Q K E | N P L T Q A V P p.700
. . . . . . g.79356
AAATGTCAGCGCTGGGAGAAACTGCAGAATTCAAGATGTGTTTGTAAAATGCCCTACGAA c.2160
K C Q R W E K L Q N S R C V C K M P Y E p.720
| 17 . . . . . . g.82300
TGTGG | ACCTTCCTTGGATGTATGTGCTCAAGATGAGAGAAGCAAAAGGATACTGCCTCTG c.2220
C G | P S L D V C A Q D E R S K R I L P L p.740
. . . . . . g.82360
ACAGTTTGCAAGATGCATGTTCTCCACTGTCAGGGTAGAAATTACACCCTTACTGGTAGG c.2280
T V C K M H V L H C Q G R N Y T L T G R p.760
. . . . . . g.82420
GACAGCTGTACTCTGCCTGCCTCAGCTGAGAAAGCTTGTGGTGCCTGCCCACTGTGGGGA c.2340
D S C T L P A S A E K A C G A C P L W G p.780
. | 18 . . . . . g.83962
AAATGTGATG | CTGAGAGCAGCAAATGTGTCTGCCGAGAAGCATCGGAGTGCGAGGAAGAA c.2400
K C D A | E S S K C V C R E A S E C E E E p.800
. . . . . . g.84022
GGGTTTAGCATTTGTGTGGAAGTGAACGGCAAGGAGCAGACGATGTCTGAGTGTGAGGCG c.2460
G F S I C V E V N G K E Q T M S E C E A p.820
. . . . . . g.84082
GGCGCTCTGAGATGCAGAGGGCAGAGCATCTCTGTCACCAGCATAAGGCCTTGTGCTGCG c.2520
G A L R C R G Q S I S V T S I R P C A A p.840
. g.84094
GAAACCCAGTAG c.2532
E T Q X p.843
. . . . . . g.84154
gctcctggaggccctggtcagcttgcttggaatccagcaggcagctggggctgagtgaaa c.*60
. . . . . . g.84214
acatctgcacaactgggcactggacagcttttccttcttctccagtgtctaccttcctcc c.*120
. . . . . . g.84274
tcaactcccagccatctgtataaacacaatcctttgttctcccaaatctgaatcgaatta c.*180
. . . . . . g.84334
ctcttttgcctcctttttaatgtcagtaaggatatgagcctttgcacaggctggctgcgt c.*240
. . . . . . g.84394
gttcttgaaataggtgttaccttctctgggccttggttttttaaaatctgtaaaattaga c.*300
. . . . . . g.84454
ggattgcactagagaaacttgaatgctccattcaggcctatcattttattaagtatgatt c.*360
. . . . . . g.84514
gacacagcccatgggccagaacacactctacaaaatgactaggataacagaaagaacgtg c.*420
. . . . . . g.84574
atctcctgattagagagggtggttttcctcaatggaaccaaatataaagaggacttgaac c.*480
. . . . . . g.84634
aaaaatgacagatacaaactatttctatcctgagtagtaatctcacacttcatcctatag c.*540
. . . . . . g.84694
agtcaaccaccacagataggaattccttattctttttttaatttttttaagacagagtct c.*600
. . . . . . g.84754
cactttgttgcccaggctggagcgcagtggggtgatctcatctccctgcaacctccgcct c.*660
. . . . . . g.84814
cctgggttcaagcgattcttgtgcctcagcttcccaagcagctgggattacaggtgcccg c.*720
. . . . . . g.84874
ccaccacgcccagctaatttttgcatttttagtagagatggggtttcaccatgttggcca c.*780
. . . . . . g.84934
cgctcgtctccaactcctgacctcaggtaatccgcctgccttggcctcccaaagtgctgg c.*840
. . . . . . g.84994
gattacagacatgaaccaccacgcctggctggaatacttactcttgtcgggagattgaac c.*900
. . . . . . g.85054
cactaaaatgttagagcagaattcattatgctgtggtcacaggggtgtcttgtctgagaa c.*960
. . . . . . g.85114
caaatacaattcagtcttctctttggggttttagtatgtgtcaaacataggactggaagt c.*1020
. . . . . . g.85174
ttgcccctgttcttttttcttttgaaagaacatcagttcatgcctgaggcatgagtgact c.*1080
. . . . . . g.85234
gtgcatttgagaatagttttccctattctgtggatacagtcccagagttttcagggagta c.*1140
. . . . . . g.85294
cacaggtagattagtttgaagcattgaccttttatttattccttatttctctttcatcaa c.*1200
. . . . . . g.85354
aacaaaacagcagctgtgggaggagaaatgagagggcttaaatgaaatttaaaataagct c.*1260
. . . . . . g.85414
atattatacaaatactatctctgtattgttctgaccctggtaaatatatttcaaaacttc c.*1320
. . . . g.85460
agatgacaaggattagaacactcattaaagatgctattcttcagaa c.*1366
(downstream sequence)
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