(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_033292.3 in the CASP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029124.1, covering CASP1 transcript NM_033292.3.
(upstream sequence)
. . . . g.5017
atactttcagtttcagtcacacaagaagggaggagagaaaagcc c.-1
| 02. . . . . . g.5709
ATGGCCG | ACAAGGTCCTGAAGGAGAAGAGAAAGCTGTTTATCCGTTCCATGGGTGAAGGT c.60
M A D | K V L K E K R K L F I R S M G E G p.20
. . . . . . g.5769
ACAATAAATGGCTTACTGGATGAATTATTACAGACAAGGGTGCTGAACAAGGAAGAGATG c.120
T I N G L L D E L L Q T R V L N K E E M p.40
. . . . . . g.5829
GAGAAAGTAAAACGTGAAAATGCTACAGTTATGGATAAGACCCGAGCTTTGATTGACTCC c.180
E K V K R E N A T V M D K T R A L I D S p.60
. . . . . . g.5889
GTTATTCCGAAAGGGGCACAGGCATGCCAAATTTGCATCACATACATTTGTGAAGAAGAC c.240
V I P K G A Q A C Q I C I T Y I C E E D p.80
. . . | 03 . . . g.7030
AGTTACCTGGCAGGGACGCTGGGACTCTCAGCAG | ATCAAACATCTGGAAATTACCTTAAT c.300
S Y L A G T L G L S A D | Q T S G N Y L N p.100
. . . | 04. . . g.8873
ATGCAAGACTCTCAAGGAGTACTTTCTTCCTTTCCAG | CTCCTCAGGCAGTGCAGGACAAC c.360
M Q D S Q G V L S S F P A | P Q A V Q D N p.120
. . . . . . g.8933
CCAGCTATGCCCACATCCTCAGGCTCAGAAGGGAATGTCAAGCTTTGCTCCCTAGAAGAA c.420
P A M P T S S G S E G N V K L C S L E E p.140
. . . | 05 . . . g.9654
GCTCAAAGGATATGGAAACAAAAGTCGGCAGAG | ATTTATCCAATAATGGACAAGTCAAGC c.480
A Q R I W K Q K S A E | I Y P I M D K S S p.160
. . . . . . g.9714
CGCACACGTCTTGCTCTCATTATCTGCAATGAAGAATTTGACAGTATTCCTAGAAGAACT c.540
R T R L A L I I C N E E F D S I P R R T p.180
. . . . . . g.9774
GGAGCTGAGGTTGACATCACAGGCATGACAATGCTGCTACAAAATCTGGGGTACAGCGTA c.600
G A E V D I T G M T M L L Q N L G Y S V p.200
. . | 06. . . . g.10264
GATGTGAAAAAAAATCTCACTGCTTCG | GACATGACTACAGAGCTGGAGGCATTTGCACAC c.660
D V K K N L T A S | D M T T E L E A F A H p.220
. . . . . . g.10324
CGCCCAGAGCACAAGACCTCTGACAGCACGTTCCTGGTGTTCATGTCTCATGGTATTCGG c.720
R P E H K T S D S T F L V F M S H G I R p.240
. . . . . . g.10384
GAAGGCATTTGTGGGAAGAAACACTCTGAGCAAGTCCCAGATATACTACAACTCAATGCA c.780
E G I C G K K H S E Q V P D I L Q L N A p.260
. . . . . . g.10444
ATCTTTAACATGTTGAATACCAAGAACTGCCCAAGTTTGAAGGACAAACCGAAGGTGATC c.840
I F N M L N T K N C P S L K D K P K V I p.280
. . | 07 . . . . g.10901
ATCATCCAGGCCTGCCGTGGTG | ACAGCCCTGGTGTGGTGTGGTTTAAAGATTCAGTAGGA c.900
I I Q A C R G D | S P G V V W F K D S V G p.300
. . . . . . g.10961
GTTTCTGGAAACCTATCTTTACCAACTACAGAAGAGTTTGAGGATGATGCTATTAAGAAA c.960
V S G N L S L P T T E E F E D D A I K K p.320
. . . . | 08 . . g.13193
GCCCACATAGAGAAGGATTTTATCGCTTTCTGCTCTTCCACACCAG | ATAATGTTTCTTGG c.1020
A H I E K D F I A F C S S T P D | N V S W p.340
. . . . . . g.13253
AGACATCCCACAATGGGCTCTGTTTTTATTGGAAGACTCATTGAACATATGCAAGAATAT c.1080
R H P T M G S V F I G R L I E H M Q E Y p.360
. . . | 09 . . . g.13798
GCCTGTTCCTGTGATGTGGAGGAAATTTTCCGCAAG | GTTCGATTTTCATTTGAGCAGCCA c.1140
A C S C D V E E I F R K | V R F S F E Q P p.380
. . . . . . g.13858
GATGGTAGAGCGCAGATGCCCACCACTGAAAGAGTGACTTTGACAAGATGTTTCTACCTC c.1200
D G R A Q M P T T E R V T L T R C F Y L p.400
. g.13873
TTCCCAGGACATTAA | c.1216
F P G H X p.404
. . . | 10 . . . g.14558
aataaggaaactgtatgaatgtctgtgggcag | gaagtgaagagatccttctgtaaaggtt c.*60
. . . . . . g.14618
tttggaattatgtctgctgaataataaacttttttgaaataataaatctggtagaaaaat c.*120
g.14623
gaaaa c.*125
(downstream sequence)
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