(used for mutation description)
(last modified April 29, 2014)
This file was created to facilitate the description of sequence variants in the C2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering C2 transcript NM_000063.4.
(upstream sequence)
. . g.30728
agtacacaaagcctgtgggggaga c.-241
. . . . . . g.30788
tctattgaccctatagatatattagcatcagggagacagggcaaaggtttcacccttcag c.-181
. . . . . . g.30848
ttcagtccccaatccctgcttattatttccctaacagaagaccatcccccttgccactcc c.-121
. . . . . . g.30908
ctggtttttcttctctggcagcaatgaagcagctgctgacccagctctagttttcgggaa c.-61
. . . . . . g.30968
gtcagatgaccttttccctcccgcggctctctacctctcgccgcccctagggaggacacc c.-1
. . . . | 02 . . g.31184
ATGGGCCCACTGATGGTTCTTTTTTGCCTGCTGTTCCTGTACCCAG | GTCTGGCAGACTCG c.60
M G P L M V L F C L L F L Y P G | L A D S p.20
. . . . . . g.31244
GCTCCCTCCTGCCCTCAGAACGTGAATATCTCGGGTGGCACCTTCACCCTCAGCCATGGC c.120
A P S C P Q N V N I S G G T F T L S H G p.40
. . . . . . g.31304
TGGGCTCCTGGGAGCCTTCTCACCTACTCCTGCCCCCAGGGCCTGTACCCATCCCCAGCA c.180
W A P G S L L T Y S C P Q G L Y P S P A p.60
. . . . . . g.31364
TCACGGCTGTGCAAGAGCAGCGGACAGTGGCAGACCCCAGGAGCCACCCGGTCTCTGTCT c.240
S R L C K S S G Q W Q T P G A T R S L S p.80
. | 03 . . . . . g.31991
AAGGCGGTCTGCAAAC | CTGTGCGCTGTCCAGCCCCTGTCTCCTTTGAGAATGGCATTTAT c.300
K A V C K P | V R C P A P V S F E N G I Y p.100
. . . . . . g.32051
ACCCCACGGCTGGGGTCCTATCCCGTGGGTGGCAATGTGAGCTTCGAGTGTGAGGATGGC c.360
T P R L G S Y P V G G N V S F E C E D G p.120
. . . . . . g.32111
TTCATATTGCGGGGCTCGCCTGTGCGTCAGTGTCGCCCCAACGGCATGTGGGATGGAGAA c.420
F I L R G S P V R Q C R P N G M W D G E p.140
. . | 04 . . . . g.36863
ACAGCTGTGTGTGATAATGGGG | CTGGCCACTGCCCCAACCCAGGCATTTCACTGGGCGCA c.480
T A V C D N G A | G H C P N P G I S L G A p.160
. . . . . . g.36923
GTGCGGACAGGCTTCCGCTTTGGTCATGGGGACAAGGTCCGCTATCGCTGCTCCTCGAAT c.540
V R T G F R F G H G D K V R Y R C S S N p.180
. . . . . . g.36983
CTTGTGCTCACGGGGTCTTCGGAGCGGGAGTGCCAGGGCAACGGGGTCTGGAGTGGAACG c.600
L V L T G S S E R E C Q G N G V W S G T p.200
. | 05 . . . . . g.37126
GAGCCCATCTGCCGCC | AACCCTACTCTTATGACTTCCCTGAGGACGTGGCCCCTGCCCTG c.660
E P I C R Q | P Y S Y D F P E D V A P A L p.220
. . . . . | 06 . g.37386
GGCACTTCCTTCTCCCACATGCTTGGGGCCACCAATCCCACCCAGAAGACAAAGG | AAAGC c.720
G T S F S H M L G A T N P T Q K T K E | S p.240
. . . . . . g.37446
CTGGGCCGTAAAATCCAAATCCAGCGCTCTGGTCATCTGAACCTCTACCTGCTCCTGGAC c.780
L G R K I Q I Q R S G H L N L Y L L L D p.260
. . . . . . g.37506
TGTTCGCAGAGTGTGTCGGAAAATGACTTTCTCATCTTCAAGGAGAGCGCCTCCCTCATG c.840
C S Q S V S E N D F L I F K E S A S L M p.280
| 07 . . . . . g.39189
GTGGACAGG | ATCTTCAGCTTTGAGATCAATGTGAGCGTTGCCATTATCACCTTTGCCTCA c.900
V D R | I F S F E I N V S V A I I T F A S p.300
. . . . . . g.39249
GAGCCCAAAGTCCTCATGTCTGTCCTGAACGACAACTCCCGGGATATGACTGAGGTGATC c.960
E P K V L M S V L N D N S R D M T E V I p.320
. . | 08 . . . g.40566
AGCAGCCTGGAAAATGCCAACTATAAAG | ATCATGAAAATGGAACTGGGACTAACACCTAT c.1020
S S L E N A N Y K D | H E N G T G T N T Y p.340
. . . . . . g.40626
GCGGCCTTAAACAGTGTCTATCTCATGATGAACAACCAAATGCGACTCCTCGGCATGGAA c.1080
A A L N S V Y L M M N N Q M R L L G M E p.360
. . . . | 09 . g.42457
ACGATGGCCTGGCAGGAAATCCGACATGCCATCATCCTTCTGACAGATG | GAAAGTCCAAT c.1140
T M A W Q E I R H A I I L L T D G | K S N p.380
. . . . . . g.42517
ATGGGTGGCTCTCCCAAGACAGCTGTTGACCATATCAGAGAGATCCTGAACATCAACCAG c.1200
M G G S P K T A V D H I R E I L N I N Q p.400
. | 10 . . . . g.46215
AAGAGGAATGACTATCTGG | ACATCTATGCCATCGGGGTGGGCAAGCTGGATGTGGACTGG c.1260
K R N D Y L D | I Y A I G V G K L D V D W p.420
. . . . . . g.46275
AGAGAACTGAATGAGCTAGGGTCCAAGAAGGATGGTGAGAGGCATGCCTTCATTCTGCAG c.1320
R E L N E L G S K K D G E R H A F I L Q p.440
. . . . | 11 . . g.46460
GACACAAAGGCTCTGCACCAGGTCTTTGAACATATGCTGG | ATGTCTCCAAGCTCACAGAC c.1380
D T K A L H Q V F E H M L D | V S K L T D p.460
. . . . . . g.46520
ACCATCTGCGGGGTGGGGAACATGTCAGCAAACGCCTCTGACCAGGAGAGGACACCCTGG c.1440
T I C G V G N M S A N A S D Q E R T P W p.480
. | 12 . . . . . g.46676
CATGTCACTATTAAG | CCCAAGAGCCAAGAGACCTGCCGGGGGGCCCTCATCTCCGACCAA c.1500
H V T I K | P K S Q E T C R G A L I S D Q p.500
. . . . . . g.46736
TGGGTCCTGACAGCAGCTCATTGCTTCCGCGATGGCAACGACCACTCCCTGTGGAGGGTC c.1560
W V L T A A H C F R D G N D H S L W R V p.520
| 13. . . . . . g.46912
AATGTGG | GAGACCCCAAATCCCAGTGGGGCAAAGAATTCCTTATTGAGAAGGCGGTGATC c.1620
N V G | D P K S Q W G K E F L I E K A V I p.540
. . . . . . g.46972
TCCCCAGGGTTTGATGTCTTTGCCAAAAAGAACCAGGGAATCCTGGAGTTCTATGGTGAT c.1680
S P G F D V F A K K N Q G I L E F Y G D p.560
. . . . . | 14 . g.47139
GACATAGCTCTGCTGAAGCTGGCCCAGAAAGTAAAGATGTCCACCCATGCCAG | GCCCATC c.1740
D I A L L K L A Q K V K M S T H A R | P I p.580
. . . . . . g.47199
TGCCTTCCCTGCACGATGGAGGCCAATCTGGCTCTGCGGAGACCTCAAGGCAGCACCTGT c.1800
C L P C T M E A N L A L R R P Q G S T C p.600
. | 15 . . . . . g.47400
AGGGACCATG | AGAATGAACTGCTGAACAAACAGAGTGTTCCTGCTCATTTTGTCGCCTTG c.1860
R D H E | N E L L N K Q S V P A H F V A L p.620
. . . . | 16 . . g.47960
AATGGGAGCAAACTGAACATTAACCTTAAGATGGGAGTGGAG | TGGACAAGCTGTGCCGAG c.1920
N G S K L N I N L K M G V E | W T S C A E p.640
. . . . . . g.48020
GTTGTCTCCCAAGAAAAAACCATGTTCCCCAACTTGACAGATGTCAGGGAGGTGGTGACA c.1980
V V S Q E K T M F P N L T D V R E V V T p.660
. . . . | 17 . g.48206
GACCAGTTCCTATGCAGTGGGACCCAGGAGGATGAGAGTCCCTGCAAGG | GAGAATCTGGG c.2040
D Q F L C S G T Q E D E S P C K G | E S G p.680
. . . | 18 . . g.48414
GGAGCAGTTTTCCTTGAGCGGAGATTCAGGTTTTTTCAG | GTGGGTCTGGTGAGCTGGGGT c.2100
G A V F L E R R F R F F Q | V G L V S W G p.700
. . . . . . g.48474
CTTTACAACCCCTGCCTTGGCTCTGCTGACAAAAACTCCCGCAAAAGGGCCCCTCGTAGC c.2160
L Y N P C L G S A D K N S R K R A P R S p.720
. . . . . . g.48534
AAGGTCCCGCCGCCACGAGACTTTCACATCAATCTCTTCCGCATGCAGCCCTGGCTGAGG c.2220
K V P P P R D F H I N L F R M Q P W L R p.740
. . . g.48573
CAGCACCTGGGGGATGTCCTGAATTTTTTACCCCTCTAG c.2259
Q H L G D V L N F L P L X p.752
. . . . . . g.48633
ccatggccactgagccctctgctgccctgccagaatctgccgcccctccatcttctacct c.*60
. . . . . . g.48693
ctgaatggccacccttagaccctgtgatccatcctctctcctagctgagtaaatccgggt c.*120
. . . . . . g.48753
ctctaggatgccagaggcagcgcacacaagctgggaaatcctcagggctcctaccagcag c.*180
. . . . . . g.48813
gactgcctcgctgccccacctcccgctccttggcctgtccccagattccttccctggttg c.*240
. . . . . . g.48873
acttgactcatgcttgtttcactttcacatggaatttcccagttatgaaattaataaaaa c.*300
. g.48888
tcaatggtttccaca c.*315
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center