(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the C1S gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering C1S transcript NM_201442.2.
(upstream sequence)
g.1164
gtt c.-361
. . . . . . g.1224
tagatcagggaatttcagacatgcacactcgggtagggaatcttatgaacagaaccagga c.-301
. . . . . . g.1284
cagggaggctggccggaggttcctgcagagggagcgtcaaggccctgtgctgctgtccct c.-241
. . . . . . g.1344
gggggccagaggggttgcccagcatgcccactggcaggagagagggaactgacccacttg c.-181
. . | 02 . . . g.2278
ctcctaccagcttctgaag | gtgacactgagccccaggtgacgccgcaccaccaaagaagg c.-121
. . . . . . g.2338
tgcttgtgtttgtcagacaaatacagccaggcctgccaccccttaggctccaaagtccgg c.-61
. . . . . . g.2398
aggtgcagaaagccaggaccaagagacaggcagctcaccagggtggacaaatcgccagag c.-1
| 03 . . . . . . g.3015
ATGTG | GTGCATTGTCCTGTTTTCACTTTTGGCATGGGTTTATGCTGAGCCTACCATGTAT c.60
M W | C I V L F S L L A W V Y A E P T M Y p.20
. . . . . . g.3075
GGGGAGATCCTGTCCCCTAACTATCCTCAGGCATATCCCAGTGAGGTAGAGAAATCTTGG c.120
G E I L S P N Y P Q A Y P S E V E K S W p.40
. . . . . . g.3135
GACATAGAAGTTCCTGAAGGGTATGGGATTCACCTCTACTTCACCCATCTGGACATTGAG c.180
D I E V P E G Y G I H L Y F T H L D I E p.60
. . . | 04 . . . g.3402
CTGTCAGAGAACTGTGCGTATGACTCAGTGCAG | ATAATCTCAGGAGACACTGAAGAAGGG c.240
L S E N C A Y D S V Q | I I S G D T E E G p.80
. . . . . . g.3462
AGGCTCTGTGGACAGAGGAGCAGTAACAATCCCCACTCTCCAATTGTGGAAGAGTTCCAA c.300
R L C G Q R S S N N P H S P I V E E F Q p.100
. . . . . . g.3522
GTCCCATACAACAAACTCCAGGTGATCTTTAAGTCAGACTTTTCCAATGAAGAGCGTTTT c.360
V P Y N K L Q V I F K S D F S N E E R F p.120
. . . | 05 . . . g.4781
ACGGGGTTTGCTGCATACTATGTTGCCACAG | ACATAAATGAATGCACAGATTTTGTAGAT c.420
T G F A A Y Y V A T D | I N E C T D F V D p.140
. . . . . . g.4841
GTCCCTTGTAGCCACTTCTGCAACAATTTCATTGGTGGTTACTTCTGCTCCTGCCCCCCG c.480
V P C S H F C N N F I G G Y F C S C P P p.160
. . . | 06. . . g.5608
GAATATTTCCTCCATGATGACATGAAGAATTGCGGAG | TTAATTGCAGTGGGGATGTATTC c.540
E Y F L H D D M K N C G V | N C S G D V F p.180
. . . . . . g.5668
ACTGCACTGATTGGGGAGATTGCAAGTCCCAATTATCCCAAACCATATCCAGAGAACTCA c.600
T A L I G E I A S P N Y P K P Y P E N S p.200
. . . . . . g.5728
AGGTGTGAATACCAGATCCGGTTGGAGAAAGGGTTCCAAGTGGTGGTGACCTTGCGGAGA c.660
R C E Y Q I R L E K G F Q V V V T L R R p.220
. . . . . | 07. g.6305
GAAGATTTTGATGTGGAAGCAGCTGACTCAGCGGGAAACTGCCTTGACAGTTTAGTT | TTT c.720
E D F D V E A A D S A G N C L D S L V | F p.240
. . . . . . g.6365
GTTGCAGGAGATCGGCAATTTGGTCCTTACTGTGGTCATGGATTCCCTGGGCCTCTAAAT c.780
V A G D R Q F G P Y C G H G F P G P L N p.260
. . . . . . g.6425
ATTGAAACCAAGAGTAATGCTCTTGATATCATCTTCCAAACTGATCTAACAGGGCAAAAA c.840
I E T K S N A L D I I F Q T D L T G Q K p.280
. . . | 08 . . . g.7032
AAGGGCTGGAAACTTCGCTATCATGGAGATC | CAATGCCCTGCCCTAAGGAAGACACTCCC c.900
K G W K L R Y H G D P | M P C P K E D T P p.300
. . . . . . g.7092
AATTCTGTTTGGGAGCCTGCGAAGGCAAAATATGTCTTTAGAGATGTGGTGCAGATAACC c.960
N S V W E P A K A K Y V F R D V V Q I T p.320
. . | 09. . . . g.7557
TGTCTGGATGGGTTTGAAGTTGTGGAG | GGACGTGTTGGTGCAACATCTTTCTATTCGACT c.1020
C L D G F E V V E | G R V G A T S F Y S T p.340
. . . . | 10 . . g.8142
TGTCAAAGCAATGGAAAGTGGAGTAATTCCAAACTGAAATGTCAAC | CTGTGGACTGTGGC c.1080
C Q S N G K W S N S K L K C Q P | V D C G p.360
. . . . . . g.8202
ATTCCTGAATCCATTGAGAATGGTAAAGTTGAAGACCCAGAGAGCACTTTGTTTGGTTCT c.1140
I P E S I E N G K V E D P E S T L F G S p.380
. . . . . | 11 . g.8946
GTCATCCGCTACACTTGTGAGGAGCCATATTACTACATGGAAAATGGAGGAGGTG | GGGAG c.1200
V I R Y T C E E P Y Y Y M E N G G G G | E p.400
. . . . . . g.9006
TATCACTGTGCTGGTAACGGGAGCTGGGTGAATGAGGTGCTGGGCCCGGAGCTGCCGAAA c.1260
Y H C A G N G S W V N E V L G P E L P K p.420
. | 12 . . . . . g.10390
TGTGTTCCAG | TCTGTGGAGTCCCCAGAGAACCCTTTGAAGAAAAACAGAGGATAATTGGA c.1320
C V P V | C G V P R E P F E E K Q R I I G p.440
. . . . . . g.10450
GGATCCGATGCAGATATTAAAAACTTCCCCTGGCAAGTCTTCTTTGACAACCCATGGGCT c.1380
G S D A D I K N F P W Q V F F D N P W A p.460
. . . . . . g.10510
GGTGGAGCGCTCATTAATGAGTACTGGGTGCTGACGGCTGCTCATGTTGTGGAGGGAAAC c.1440
G G A L I N E Y W V L T A A H V V E G N p.480
. . . . . . g.10570
AGGGAGCCAACAATGTATGTTGGGTCCACCTCAGTGCAGACCTCACGGCTGGCAAAATCC c.1500
R E P T M Y V G S T S V Q T S R L A K S p.500
. . . . . . g.10630
AAGATGCTCACTCCTGAGCATGTGTTTATTCATCCGGGATGGAAGCTGCTGGAAGTCCCA c.1560
K M L T P E H V F I H P G W K L L E V P p.520
. . . . . . g.10690
GAAGGACGAACCAATTTTGATAATGACATTGCACTGGTGCGGCTGAAAGACCCAGTGAAA c.1620
E G R T N F D N D I A L V R L K D P V K p.540
. . . . . . g.10750
ATGGGACCCACCGTCTCTCCCATCTGCCTACCAGGCACCTCTTCCGACTACAACCTCATG c.1680
M G P T V S P I C L P G T S S D Y N L M p.560
. . . . . . g.10810
GATGGGGACCTGGGACTGATCTCAGGCTGGGGCCGAACAGAGAAGAGAGATCGTGCTGTT c.1740
D G D L G L I S G W G R T E K R D R A V p.580
. . . . . . g.10870
CGCCTCAAGGCGGCAAGGTTACCTGTAGCTCCTTTAAGAAAATGCAAAGAAGTGAAAGTG c.1800
R L K A A R L P V A P L R K C K E V K V p.600
. . . . . . g.10930
GAGAAACCCACAGCAGATGCAGAGGCCTATGTTTTCACTCCTAACATGATCTGTGCTGGA c.1860
E K P T A D A E A Y V F T P N M I C A G p.620
. . . . . . g.10990
GGAGAGAAGGGCATGGATAGCTGTAAAGGGGACAGTGGTGGGGCCTTTGCTGTACAGGAT c.1920
G E K G M D S C K G D S G G A F A V Q D p.640
. . . . . . g.11050
CCCAATGACAAGACCAAATTCTACGCAGCTGGCCTGGTGTCCTGGGGGCCCCAGTGTGGG c.1980
P N D K T K F Y A A G L V S W G P Q C G p.660
. . . . . . g.11110
ACCTATGGGCTCTACACACGGGTAAAGAACTATGTTGACTGGATAATGAAGACTATGCAG c.2040
T Y G L Y T R V K N Y V D W I M K T M Q p.680
. . g.11137
GAAAATAGCACCCCCCGTGAGGACTAA c.2067
E N S T P R E D X p.688
. . . . . . g.11197
tccagatacatcccaccagcctctccaagggtggtgaccaatgcattaccttctgttcct c.*60
. . . . . . g.11257
tatgatattctcattatttcatcatgactgaaagaagacacgagcgaatgatttaaatag c.*120
. . . . . . g.11317
aacttgattgttgagacgccttgctagaggtagagtttgatcatagaattgtgctggtca c.*180
. . . . . . g.11377
tacatttgtggtctgactccttggggtcctttccccggagtacctattgtagataacact c.*240
. . . . . . g.11437
atgggtggggcactcctttcttgcactattccacagggataccttaattctttgtttcct c.*300
. . . . . . g.11497
ctttacctgttcaaaattccatttacttgatcattctcagtatccactgtctatgtacaa c.*360
. . g.11518
taaaggatgtttataagcaaa c.*381
(downstream sequence)
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