(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the CARD14 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering CARD14 transcript NM_024110.4.
(upstream sequence)
. . . . g.9564
gctcttccttctgcccagctccgtcccacccagcagcccgcagagaaa c.-121
. . . . . . g.9624
ggaggcagctggcaccacactgggctttggagacactgcggggactgtggaccccaccct c.-61
. . . . | 02 . g.12447
gctgcacggagctcctgcaaaagcaaacctgagaaccttg | ggtcctcccagcgcccagcc c.-1
. . . . . . g.12507
ATGGGGGAACTGTGCCGCAGGGACTCCGCACTCACGGCACTGGACGAGGAGACACTGTGG c.60
M G E L C R R D S A L T A L D E E T L W p.20
. . . . . . g.12567
GAGATGATGGAGAGCCACCGCCACAGGATCGTACGCTGCATCTGCCCCAGCCGCCTCACC c.120
E M M E S H R H R I V R C I C P S R L T p.40
. . . . . . g.12627
CCCTACCTGCGCCAGGCCAAGGTGCTGTGCCAGCTGGACGAGGAGGAGGTGCTGCACAGC c.180
P Y L R Q A K V L C Q L D E E E V L H S p.60
. . . | 03 . . . g.13690
CCCCGGCTCACCAACAGCGCCATGCGGGCCG | GGCACTTGCTGGATTTGCTGAAGACTCGA c.240
P R L T N S A M R A G | H L L D L L K T R p.80
. . . . . . g.13750
GGGAAGAACGGGGCCATCGCCTTCCTGGAGAGCCTGAAGTTCCACAACCCTGACGTCTAC c.300
G K N G A I A F L E S L K F H N P D V Y p.100
. . . . | 04 . g.14932
ACCCTGGTCACCGGGCTGCAGCCTGATGTTGACTTCAGTAACTTTAGCG | GTCTCATGGAG c.360
T L V T G L Q P D V D F S N F S G | L M E p.120
. . . . . . g.14992
ACATCCAAGCTGACCGAGTGCCTGGCTGGGGCCATCGGCAGCCTGCAGGAGGAGCTGAAC c.420
T S K L T E C L A G A I G S L Q E E L N p.140
. . . . . . g.15052
CAGGAAAAGGGGCAGAAGGAGGTGCTGCTGCGGCGGTGCCAGCAGCTGCAGGAGCACCTG c.480
Q E K G Q K E V L L R R C Q Q L Q E H L p.160
. . . . . . g.15112
GGCCTGGCCGAGACCCGTGCCGAGGGCCTGCACCAGCTGGAGGCTGACCACAGCCGCATG c.540
G L A E T R A E G L H Q L E A D H S R M p.180
. . . . . . g.15172
AAGCGTGAGGTTAGCGCACACTTCCATGAGGTGCTGAGGCTGAAGGACGAGATGCTCAGC c.600
K R E V S A H F H E V L R L K D E M L S p.200
. . . . . . g.15232
CTCTCGCTGCACTATAGCAATGCGCTGCAGGAGAAGGAGCTGGCCGCCTCACGCTGCCGC c.660
L S L H Y S N A L Q E K E L A A S R C R p.220
. | 05 . . . . . g.19430
AGCCTGCAGGAGGAG | CTGTATCTACTGAAGCAGGAGCTGCAGCGAGCCAACATGGTTTCC c.720
S L Q E E | L Y L L K Q E L Q R A N M V S p.240
. . . . . . g.19490
TCCTGTGAGCTGGAATTGCAAGAGCAGTCCCTGAGGACAGCCAGCGACCAGGAGTCCGGG c.780
S C E L E L Q E Q S L R T A S D Q E S G p.260
. . . . . . g.19550
GATGAGGAGCTGAACCGCCTGAAGGAGGAGAATGAGAAACTGCGCTCGCTGACTTTCAGC c.840
D E E L N R L K E E N E K L R S L T F S p.280
| 06 . . . . . . g.20818
CTG | GCGGAGAAGGACATTCTGGAGCAGAGCCTGGACGAGGCGCGGGGGAGCCGACAGGAG c.900
L | A E K D I L E Q S L D E A R G S R Q E p.300
. . . . . . g.20878
CTGGTGGAGCGCATCCACTCGCTGCGGGAGCGGGCCGTGGCTGCCGAGAGGCAGCGAGAG c.960
L V E R I H S L R E R A V A A E R Q R E p.320
| 07 . . . . . . g.21839
CAG | TACTGGGAAGAGAAGGAACAGACCCTGCTGCAGTTCCAGAAGAGTAAGATGGCCTGC c.1020
Q | Y W E E K E Q T L L Q F Q K S K M A C p.340
. . . . . . g.21899
CAACTCTACAGGGAGAAGGTGAATGCGCTGCAGGCCCAGGTGTGCGAGCTGCAGAAGGAG c.1080
Q L Y R E K V N A L Q A Q V C E L Q K E p.360
| 08 . . . . . g.22382
CGAGACCAG | GCGTACTCCGCGAGGGACAGTGCTCAGAGGGAGATTTCCCAGAGCCTGGTG c.1140
R D Q | A Y S A R D S A Q R E I S Q S L V p.380
. . . . . . g.22442
GAGAAGGACTCCCTCCGCAGGCAGGTGTTCGAGCTGACGGACCAGGTCTGCGAGCTGCGC c.1200
E K D S L R R Q V F E L T D Q V C E L R p.400
. . . | 09 . . g.23532
ACACAGCTTCGCCAGCTGCAGGCAGAGCCTCCGGGTGTG | CTCAAGCAGGAAGCCAGGACC c.1260
T Q L R Q L Q A E P P G V | L K Q E A R T p.420
. . . . . . g.23592
AGGGAGCCCTGTCCACGGGAGAAGCAGCGGCTGGTGCGGATGCATGCCATCTGCCCCAGA c.1320
R E P C P R E K Q R L V R M H A I C P R p.440
. . . | 10 . . . g.26223
GACGACAGCGACTGCAGCCTCGTCAGCTCCACAGAG | TCTCAGCTCTTGTCGGACCTGAGT c.1380
D D S D C S L V S S T E | S Q L L S D L S p.460
. . . . . . g.26283
GCCACGTCCAGCCGCGAGCTGGTGGACAGCTTCCGCTCCAGCAGCCCCGCGCCCCCCAGC c.1440
A T S S R E L V D S F R S S S P A P P S p.480
. . . . . | 11 g.26567
CAGCAGTCCCTGTACAAGCGGGTGGCCGAGGACTTCGGGGAAGAACCCTGGTCTTTCAG | C c.1500
Q Q S L Y K R V A E D F G E E P W S F S | p.500
. . . . . . g.26627
AGCTGCCTGGAGATCCCGGAGGGAGACCCGGGAGCCCTGCCGGGAGCTAAGGCAGGCGAC c.1560
S C L E I P E G D P G A L P G A K A G D p.520
. . . | 12 . . . g.29133
CCACACCTGGATTATGAGCTCCTAGACACGGCAG | ACCTTCCGCAGCTGGAAAGCAGCCTG c.1620
P H L D Y E L L D T A D | L P Q L E S S L p.540
. . . | 13 . . g.29429
CAGCCAGTCTCCCCTGGAAGGCTTGATGTCTCGGAGAG | CGGCGTCCTCATGCGGCGGAGG c.1680
Q P V S P G R L D V S E S | G V L M R R R p.560
. . . . . . g.29489
CCAGCCCGCAGGATCCTGAGCCAGGTCACCATGCTGGCGTTCCAGGGGGATGCATTGCTG c.1740
P A R R I L S Q V T M L A F Q G D A L L p.580
. . . . . . g.29549
GAGCAGATCAGCGTCATCGGCGGGAACCTCACGGGCATCTTCATCCACCGGGTCACCCCG c.1800
E Q I S V I G G N L T G I F I H R V T P p.600
. . . . . | 14 . g.32761
GGCTCGGCGGCGGACCAGATGGCCTTGCGCCCGGGCACCCAGATTGTGATG | GTTGATTAC c.1860
G S A A D Q M A L R P G T Q I V M | V D Y p.620
. . . . . . g.32821
GAAGCCTCAGAGCCCTTGTTCAAGGCAGTCCTGGAGGACACGACCCTGGAGGAGGCCGTG c.1920
E A S E P L F K A V L E D T T L E E A V p.640
. . . . . | 15 g.33190
GGGCTTCTCAGGAGGGTGGACGGCTTCTGCTGCCTGTCTGTGAAGGTCAACACGGACG | GT c.1980
G L L R R V D G F C C L S V K V N T D G | p.660
. . . . . . g.33250
TATAAGAGGCTACTCCAGGACCTGGAGGCCAAAGTGGCGACCTCGGGGGACTCATTCTAC c.2040
Y K R L L Q D L E A K V A T S G D S F Y p.680
. . . . . . g.33310
ATCCGGGTCAACCTGGCCATGGAGGGCAGGGCCAAAGGGGAGCTGCAGGTGCATTGCAAC c.2100
I R V N L A M E G R A K G E L Q V H C N p.700
. . . . . . g.33370
GAGGTCCTGCACGTCACCGACACCATGTTCCAGGGCTGCGGCTGCTGGCATGCCCACCGC c.2160
E V L H V T D T M F Q G C G C W H A H R p.720
. . . . . | 16 g.34831
GTGAACTCTTACACCATGAAGGATACTGCCGCGCACGGCACCATCCCCAACTACTCCAG | G c.2220
V N S Y T M K D T A A H G T I P N Y S R | p.740
. . . . . . g.34891
GCTCAGCAGCAGCTCATAGCCCTCATCCAGGACATGACTCAGCAGTGCACCGTGACCCGC c.2280
A Q Q Q L I A L I Q D M T Q Q C T V T R p.760
| 17 . . . . . . g.35292
AAG | CCATCTTCTGGGGGACCACAGAAGCTGGTCCGCATCGTCAGTATGGACAAAGCCAAG c.2340
K | P S S G G P Q K L V R I V S M D K A K p.780
. . . . . | 18 g.36045
GCCAGCCCTCTGCGTTTGTCCTTTGACAGGGGCCAGTTGGACCCCAGCAGGATGGAGG | GC c.2400
A S P L R L S F D R G Q L D P S R M E G | p.800
. . . . . . g.36105
TCCAGCACGTGCTTCTGGGCCGAGAGCTGCCTCACCCTGGTGCCCTATACCCTGGTGCGG c.2460
S S T C F W A E S C L T L V P Y T L V R p.820
. . . . . . g.36165
CCCCATCGACCCGCCCGGCCCCGGCCTGTGCTCCTCGTGCCCAGGGCGGTTGGGAAGATC c.2520
P H R P A R P R P V L L V P R A V G K I p.840
. . . . | 19 . g.36550
CTGAGCGAGAAACTGTGCCTCCTCCAAGGGTTTAAGAAGTGCCTGGCAG | AGTACTTGAGC c.2580
L S E K L C L L Q G F K K C L A E | Y L S p.860
. . . . . . g.36610
CAGGAGGAGTATGAGGCCTGGAGCCAGAGAGGGGACATCATCCAGGAGGGAGAGGTGTCC c.2640
Q E E Y E A W S Q R G D I I Q E G E V S p.880
. . . . . | 20 . g.37987
GGGGGCCGCTGCTGGGTGACCCGCCATGCTGTGGAGTCCCTCATGGAAAAG | AACACCCAT c.2700
G G R C W V T R H A V E S L M E K | N T H p.900
. . . . . . g.38047
GCCCTCCTGGACGTCCAGCTGGACAGTGTCTGCACCCTGCACAGGATGGACATCTTCCCC c.2760
A L L D V Q L D S V C T L H R M D I F P p.920
. . . . | 21. . g.39159
ATCGTCATCCACGTCTCTGTCAACGAGAAGATGGCAAAGAAGCTCAA | GAAGGGCCTACAG c.2820
I V I H V S V N E K M A K K L K | K G L Q p.940
. . . . . . g.39219
CGGTTGGGCACCTCAGAGGAGCAGCTCCTGGAGGCTGCGAGGCAGGAGGAGGGAGACCTG c.2880
R L G T S E E Q L L E A A R Q E E G D L p.960
. . . . . . g.39279
GACCGGGCGCCCTGTCTATACAGCAGCCTGGCTCCTGACGGCTGGAGCGACCTGGACGGC c.2940
D R A P C L Y S S L A P D G W S D L D G p.980
. . . . . . g.39339
CTGCTCAGCTGTGTCCGCCAGGCCATCGCCGACGAGCAGAAGAAGGTGGTGTGGACGGAG c.3000
L L S C V R Q A I A D E Q K K V V W T E p.1000
. g.39354
CAGAGCCCCCGATGA c.3015
Q S P R X p.1004
. . . . . . g.39414
tgcaccgtgccccttcccgggactgtgggggcttctgtgtgcctgttaatgcagtcctgt c.*60
. . . . . . g.39474
tcctcagcccaggccctcttggcacagctgtgggctccttggcacatgaggccggctctc c.*120
. . . . . . g.39534
cccactggctggggtctaaccttgaaccctcaccacgtgcaggtcacacacagtgaagcc c.*180
. . . . . . g.39594
acttgtaactgcacacttttctgtggaaacatcttcaccctttaccaggcttggcatggt c.*240
. . . . . . g.39654
ctgaactggaaaccctgagaatgtttctgcagtgggacaggagggacgtcttcccatgcc c.*300
. . . . . . g.39714
ttccctagaaccggaggccccggacttctctggaaaaccgcctgtctgcaggcccgattc c.*360
. . . . . . g.39774
aaatctatgggggctgcacttcccttttacattttgatgtgtcaaaggcttttggagtga c.*420
. . . . . . g.39834
ccaaaagcacagaggcagcgggtggggcgcctgggtggtccccaaggtcgctgccaccct c.*480
. . . . . . g.39894
tgcccggggcagaggcagaagcccacatatgctgtgacgctggccaccttttctcagctt c.*540
. . . . . . g.39954
ctgaggctgcgatgcctcaggaactccagtttacagagaccagtgtgtttacttgtaaat c.*600
. . . . . . g.40014
aaagcctctgcgtggtggagacggtactttcagtgggtctgtgccccgtggcccctgtgc c.*660
. . . . . . g.40074
ctgttcggtgggggtgtcccagagaagcctggcaccagtacccccgtacaaggcccagcg c.*720
. . . . . . g.40134
gactctgccttcccctgacctggctttgcaccccagcccttcttgggccaaacatcttta c.*780
. . . . . . g.40194
ctccaccttcagggctcggggaggacccaggtccgccagcacctggccttgcccctgcct c.*840
. . . . . . g.40254
cctggggctgttgcagactgaatgtcattttgacagcagtgtccaagaatcaggaagctg c.*900
. . . . . . g.40314
ttctagaattcaggttggtatcatcataaatgagttcagaaaaagaacttctgtatattt c.*960
. . g.40340
tactaaaataaaaagcttttacaata c.*986
(downstream sequence)
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