(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the CASP8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering CASP8 transcript NM_001228.4.
(upstream sequence)
g.1003
gtg c.-301
. . . . . . g.1063
ctctgagtttttggtttctgtttcaccttgtgtctgagctggtctgaaggctggttgttc c.-241
. . . . . . g.1123
agactgagcttcctgcctgcctgtaccccgccaacagcttcagaagaaggtgactggtgg c.-181
. . . . . . | 02 g.1576
ctgcctgaggaataccagtgggcaagagaattagcatttctggagcatctgctgtct | gag c.-121
. . . . . . g.1636
cagcccctgggtgcgtccactttctgggcacgtgaggttgggccttggccgcctgagccc c.-61
. . . . | 03 . . g.34044
ttgagttggtcacttgaaccttgggaatattgag | attatattctcctgccttttaaaaag c.-1
. . . . . . g.34104
ATGGACTTCAGCAGAAATCTTTATGATATTGGGGAACAACTGGACAGTGAAGATCTGGCC c.60
M D F S R N L Y D I G E Q L D S E D L A p.20
. . . . . . g.34164
TCCCTCAAGTTCCTGAGCCTGGACTACATTCCGCAAAGGAAGCAAGAACCCATCAAGGAT c.120
S L K F L S L D Y I P Q R K Q E P I K D p.40
. . . . . . g.34224
GCCTTGATGTTATTCCAGAGACTCCAGGAAAAGAGAATGTTGGAGGAAAGCAATCTGTCC c.180
A L M L F Q R L Q E K R M L E E S N L S p.60
. . . . . . g.34284
TTCCTGAAGGAGCTGCTCTTCCGAATTAATAGACTGGATTTGCTGATTACCTACCTAAAC c.240
F L K E L L F R I N R L D L L I T Y L N p.80
. . . . . . g.34344
ACTAGAAAGGAGGAGATGGAAAGGGAACTTCAGACACCAGGCAGGGCTCAAATTTCTGCC c.300
T R K E E M E R E L Q T P G R A Q I S A p.100
| 04 . . . . . . g.37122
TACAG | GTTCCACTTCTGCCGCATGAGCTGGGCTGAAGCAAACAGCCAGTGCCAGACACAG c.360
Y R | F H F C R M S W A E A N S Q C Q T Q p.120
. . . . | 05 . . g.39092
TCTGTACCTTTCTGGCGGAGGGTCGATCATCTATTAATAAG | GGTCATGCTCTATCAGATT c.420
S V P F W R R V D H L L I R | V M L Y Q I p.140
. . . . . . g.39152
TCAGAAGAAGTGAGCAGATCAGAATTGAGGTCTTTTAAGTTTCTTTTGCAAGAGGAAATC c.480
S E E V S R S E L R S F K F L L Q E E I p.160
. . | 06. . . . g.40228
TCCAAATGCAAACTGGATGATGACATG | AACCTGCTGGATATTTTCATAGAGATGGAGAAG c.540
S K C K L D D D M | N L L D I F I E M E K p.180
. . . . . . g.40288
AGGGTCATCCTGGGAGAAGGAAAGTTGGACATCCTGAAAAGAGTCTGTGCCCAAATCAAC c.600
R V I L G E G K L D I L K R V C A Q I N p.200
. . . . | 07 . . g.42460
AAGAGCCTGCTGAAGATAATCAACGACTATGAAGAATTCAGCAAAG | GGGAGGAGTTGTGT c.660
K S L L K I I N D Y E E F S K G | E E L C p.220
. . . . . | 08 . g.44393
GGGGTAATGACAATCTCGGACTCTCCAAGAGAACAGGATAGTGAATCACAG | ACTTTGGAC c.720
G V M T I S D S P R E Q D S E S Q | T L D p.240
. . . . . . g.44453
AAAGTTTACCAAATGAAAAGCAAACCTCGGGGATACTGTCTGATCATCAACAATCACAAT c.780
K V Y Q M K S K P R G Y C L I I N N H N p.260
. . . . . . g.44513
TTTGCAAAAGCACGGGAGAAAGTGCCCAAACTTCACAGCATTAGGGACAGGAATGGAACA c.840
F A K A R E K V P K L H S I R D R N G T p.280
. | 09 . . . . . g.52420
CACTTGGATGCAG | GGGCTTTGACCACGACCTTTGAAGAGCTTCATTTTGAGATCAAGCCC c.900
H L D A G | A L T T T F E E L H F E I K P p.300
. . . . . . g.52480
CACGATGACTGCACAGTAGAGCAAATCTATGAGATTTTGAAAATCTACCAACTCATGGAC c.960
H D D C T V E Q I Y E I L K I Y Q L M D p.320
. . . . . . g.52540
CACAGTAACATGGACTGCTTCATCTGCTGTATCCTCTCCCATGGAGACAAGGGCATCATC c.1020
H S N M D C F I C C I L S H G D K G I I p.340
. . . . . . g.52600
TATGGCACTGATGGACAGGAGGCCCCCATCTATGAGCTGACATCTCAGTTCACTGGTTTG c.1080
Y G T D G Q E A P I Y E L T S Q F T G L p.360
. . . . . . g.52660
AAGTGCCCTTCCCTTGCTGGAAAACCCAAAGTGTTTTTTATTCAGGCTTGTCAGGGGGAT c.1140
K C P S L A G K P K V F F I Q A C Q G D p.380
. . . . . . g.52720
AACTACCAGAAAGGTATACCTGTTGAGACTGATTCAGAGGAGCAACCCTATTTAGAAATG c.1200
N Y Q K G I P V E T D S E E Q P Y L E M p.400
. . . . . . g.52780
GATTTATCATCACCTCAAACGAGATATATCCCGGATGAGGCTGACTTTCTGCTGGGGATG c.1260
D L S S P Q T R Y I P D E A D F L L G M p.420
. . . . . . g.52840
GCCACTGTGAATAACTGTGTTTCCTACCGAAACCCTGCAGAGGGAACCTGGTACATCCAG c.1320
A T V N N C V S Y R N P A E G T W Y I Q p.440
. . . | 10 . . . g.54041
TCACTTTGCCAGAGCCTGAGAGAGCGATGTCCTCG | AGGCGATGATATTCTCACCATCCTG c.1380
S L C Q S L R E R C P R | G D D I L T I L p.460
. . . . . . g.54101
ACTGAAGTGAACTATGAAGTAAGCAACAAGGATGACAAGAAAAACATGGGGAAACAGATG c.1440
T E V N Y E V S N K D D K K N M G K Q M p.480
. . . . . g.54152
CCTCAGCCTACTTTCACACTAAGAAAAAAACTTGTCTTCCCTTCTGATTGA c.1491
P Q P T F T L R K K L V F P S D X p.496
. . . . . . g.54212
tggtgctattttgtttgttttgttttgttttgtttttttgagacagaatctcgctctgtc c.*60
. . . . . . g.54272
gcccaggctggagtgcagtggcgtgatctcggctcaccgcaagctccgcctcccgggttc c.*120
. . . . . . g.54332
aggccattctcctgcctcagcctcccgagtagctgggactacaggggcccgccaccacac c.*180
. . . . . . g.54392
ctggctaattttttaaaaatatttttagtagagacagggtttcactgtgttagccagggt c.*240
. . . . . . g.54452
ggtcttgatctcctgacctcgtgatccacccacctcggcctcccaaagtgctgggattac c.*300
. . . . . . g.54512
aggcgtgagccaccgcgcctggccgatggtactatttagatataacactatgtttattta c.*360
. . . . . . g.54572
ctaattttctagattttctactttattaattgttttgcacttttttataagagctaaagt c.*420
. . . . . . g.54632
taaataggatattaacaacaataacactgtctcctttctcttatgcttaaggctttggga c.*480
. . . . . . g.54692
atgtttttagctggtggcaataaataccagacacgtacaaaatccagctatgaatataga c.*540
. . . . . . g.54752
gggcttatgattcagattgttatctatcaactataagcccactgttaatattctattaac c.*600
. . . . . . g.54812
tttaattctctttcaaagctaaattccacactaccacattaaaaaaattagaaagtagcc c.*660
. . . . . . g.54872
acgtatggtggctcatgtctataatcccagcactttgggaggttgaggtgggaggattgc c.*720
. . . . . . g.54932
ttgaacccaagaggtcaaggctgcagtgagccatgttcacaccgctgcactcaagcttgg c.*780
. . . . . . g.54992
gtgacagaacaagaccccgtctcaaaaaaaattttttttttaataaaacaaaatttgttt c.*840
. . . . . . g.55052
gaaatcttttaaaaattcaaatgatttttacaagttttaaataagctctccccaaacttg c.*900
. . . . . . g.55112
ctttatgccttcttattgcttttatgatatatatatgcttggctaactatatttgctttt c.*960
. . . . . . g.55172
tgctaacaatgctctggggtctttttatgcatttgcatttgctctttcatctctgcttgg c.*1020
. . . . . . g.55232
attattttaaatcattaggaattaagttatctttaaaatttaagtatcttttttcaaaaa c.*1080
. . . g.55269
cattttttaatagaataaaatataatttgatcttatt c.*1117
(downstream sequence)
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