(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the NLRP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering NLRP3 transcript NM_004895.4.
(upstream sequence)
. . g.2919
gtagatgaggaaactgaagttgagga c.-721
. . . . . . g.2979
atagtgaagagtttgtccaatgtcatagccccgtaatcaacgggacaaaaattttcttgc c.-661
. . . . . . g.3039
tgatgggtcaagatggcatcgtgaagtggttgttcaccgtaaactgtaatacaatcctgt c.-601
. . . . . . g.3099
ttatggatttgtttgcatatttttccctccatagggaaacctttcttccatggctcagga c.-541
. . . . . . g.3159
cacactcctggatcgagccaacaggagaactttctggtaagcatttggctaacttttttt c.-481
. . . . . . g.3219
tttttgagatggagtcttgctgtgtcgcctaggctggagtgcagtggcgtgatcttggct c.-421
. . . . . . g.3279
cactgcagcctccacttcccgggttcaatcaattctcctacctcaacttcctgagtagct c.-361
. . . . . . g.3339
gggattacaggcgcccgccaccacacccggctcatttttgtacttttagtagagacacag c.-301
. . . . . . g.3399
ttttgccatgttggccaggctggtcttgaattcctcagctcaggtgatctgcctgccttg c.-241
. . . . . . g.3459
gcctctcaaagtgctgggattacaggcgtgagccactgtgcccggccttggctaactttt c.-181
. . . . . . g.3519
caaaattaaagattttgacttgttacagtcatgtgacatttttttctttctgtttgctga c.-121
. . . . . . g.3579
gtttttgataatttatatctctcaaagtggagactttaaaaaagactcatccgtgtgccg c.-61
. . . . . . g.3639
tgttcactgcctggtatcttagtgtggaccgaagcctaaggaccctgaaaacagctgcag c.-1
. . . . . . g.3699
ATGAAGATGGCAAGCACCCGCTGCAAGCTGGCCAGGTACCTGGAGGACCTGGAGGATGTG c.60
M K M A S T R C K L A R Y L E D L E D V p.20
. . . . . . g.3759
GACTTGAAGAAATTTAAGATGCACTTAGAGGACTATCCTCCCCAGAAGGGCTGCATCCCC c.120
D L K K F K M H L E D Y P P Q K G C I P p.40
. . . . . . g.3819
CTCCCGAGGGGTCAGACAGAGAAGGCAGACCATGTGGATCTAGCCACGCTAATGATCGAC c.180
L P R G Q T E K A D H V D L A T L M I D p.60
. . . . . . g.3879
TTCAATGGGGAGGAGAAGGCGTGGGCCATGGCCGTGTGGATCTTCGCTGCGATCAACAGG c.240
F N G E E K A W A M A V W I F A A I N R p.80
. . . . | 02 . . g.8091
AGAGACCTTTATGAGAAAGCAAAAAGAGATGAGCCGAAGTGGG | GTTCAGATAATGCACGT c.300
R D L Y E K A K R D E P K W G | S D N A R p.100
. . . . . . g.8151
GTTTCGAATCCCACTGTGATATGCCAGGAAGACAGCATTGAAGAGGAGTGGATGGGTTTA c.360
V S N P T V I C Q E D S I E E E W M G L p.120
. . . . | 03 . . g.8708
CTGGAGTACCTTTCGAGAATCTCTATTTGTAAAATGAAGAAAG | ATTACCGTAAGAAGTAC c.420
L E Y L S R I S I C K M K K D | Y R K K Y p.140
. . . . . . g.8768
AGAAAGTACGTGAGAAGCAGATTCCAGTGCATTGAAGACAGGAATGCCCGTCTGGGTGAG c.480
R K Y V R S R F Q C I E D R N A R L G E p.160
. . . . . . g.8828
AGTGTGAGCCTCAACAAACGCTACACACGACTGCGTCTCATCAAGGAGCACCGGAGCCAG c.540
S V S L N K R Y T R L R L I K E H R S Q p.180
. . . . . . g.8888
CAGGAGAGGGAGCAGGAGCTTCTGGCCATCGGCAAGACCAAGACGTGTGAGAGCCCCGTG c.600
Q E R E Q E L L A I G K T K T C E S P V p.200
. . . . . . g.8948
AGTCCCATTAAGATGGAGTTGCTGTTTGACCCCGATGATGAGCATTCTGAGCCTGTGCAC c.660
S P I K M E L L F D P D D E H S E P V H p.220
. . . . . . g.9008
ACCGTGGTGTTCCAGGGGGCGGCAGGGATTGGGAAAACAATCCTGGCCAGGAAGATGATG c.720
T V V F Q G A A G I G K T I L A R K M M p.240
. . . . . . g.9068
TTGGACTGGGCGTCGGGGACACTCTACCAAGACAGGTTTGACTATCTGTTCTATATCCAC c.780
L D W A S G T L Y Q D R F D Y L F Y I H p.260
. . . . . . g.9128
TGTCGAGAGGTGAGCCTTGTGACACAGAGGAGCCTGGGGGACCTGATCATGAGCTGCTGC c.840
C R E V S L V T Q R S L G D L I M S C C p.280
. . . . . . g.9188
CCCGACCCAAACCCACCCATCCACAAGATCGTGAGAAAACCCTCCAGAATCCTCTTCCTC c.900
P D P N P P I H K I V R K P S R I L F L p.300
. . . . . . g.9248
ATGGACGGCTTCGATGAGCTGCAAGGTGCCTTTGACGAGCACATAGGACCGCTCTGCACT c.960
M D G F D E L Q G A F D E H I G P L C T p.320
. . . . . . g.9308
GACTGGCAGAAGGCCGAGCGGGGAGACATTCTCCTGAGCAGCCTCATCAGAAAGAAGCTG c.1020
D W Q K A E R G D I L L S S L I R K K L p.340
. . . . . . g.9368
CTTCCCGAGGCCTCTCTGCTCATCACCACGAGACCTGTGGCCCTGGAGAAACTGCAGCAC c.1080
L P E A S L L I T T R P V A L E K L Q H p.360
. . . . . . g.9428
TTGCTGGACCATCCTCGGCATGTGGAGATCCTGGGTTTCTCCGAGGCCAAAAGGAAAGAG c.1140
L L D H P R H V E I L G F S E A K R K E p.380
. . . . . . g.9488
TACTTCTTCAAGTACTTCTCTGATGAGGCCCAAGCCAGGGCAGCCTTCAGTCTGATTCAG c.1200
Y F F K Y F S D E A Q A R A A F S L I Q p.400
. . . . . . g.9548
GAGAACGAGGTCCTCTTCACCATGTGCTTCATCCCCCTGGTCTGCTGGATCGTGTGCACT c.1260
E N E V L F T M C F I P L V C W I V C T p.420
. . . . . . g.9608
GGACTGAAACAGCAGATGGAGAGTGGCAAGAGCCTTGCCCAGACATCCAAGACCACCACC c.1320
G L K Q Q M E S G K S L A Q T S K T T T p.440
. . . . . . g.9668
GCGGTGTACGTCTTCTTCCTTTCCAGTTTGCTGCAGCCCCGGGGAGGGAGCCAGGAGCAC c.1380
A V Y V F F L S S L L Q P R G G S Q E H p.460
. . . . . . g.9728
GGCCTCTGCGCCCACCTCTGGGGGCTCTGCTCTTTGGCTGCAGATGGAATCTGGAACCAG c.1440
G L C A H L W G L C S L A A D G I W N Q p.480
. . . . . . g.9788
AAAATCCTGTTTGAGGAGTCCGACCTCAGGAATCATGGACTGCAGAAGGCGGATGTGTCT c.1500
K I L F E E S D L R N H G L Q K A D V S p.500
. . . . . . g.9848
GCTTTCCTGAGGATGAACCTGTTCCAAAAGGAAGTGGACTGCGAGAAGTTCTACAGCTTC c.1560
A F L R M N L F Q K E V D C E K F Y S F p.520
. . . . . . g.9908
ATCCACATGACTTTCCAGGAGTTCTTTGCCGCCATGTACTACCTGCTGGAAGAGGAAAAG c.1620
I H M T F Q E F F A A M Y Y L L E E E K p.540
. . . . . . g.9968
GAAGGAAGGACGAACGTTCCAGGGAGTCGTTTGAAGCTTCCCAGCCGAGACGTGACAGTC c.1680
E G R T N V P G S R L K L P S R D V T V p.560
. . . . . . g.10028
CTTCTGGAAAACTATGGCAAATTCGAAAAGGGGTATTTGATTTTTGTTGTACGTTTCCTC c.1740
L L E N Y G K F E K G Y L I F V V R F L p.580
. . . . . . g.10088
TTTGGCCTGGTAAACCAGGAGAGGACCTCCTACTTGGAGAAGAAATTAAGTTGCAAGATC c.1800
F G L V N Q E R T S Y L E K K L S C K I p.600
. . . . . . g.10148
TCTCAGCAAATCAGGCTGGAGCTGCTGAAATGGATTGAAGTGAAAGCCAAAGCTAAAAAG c.1860
S Q Q I R L E L L K W I E V K A K A K K p.620
. . . . . . g.10208
CTGCAGATCCAGCCCAGCCAGCTGGAATTGTTCTACTGTTTGTACGAGATGCAGGAGGAG c.1920
L Q I Q P S Q L E L F Y C L Y E M Q E E p.640
. . . . . . g.10268
GACTTCGTGCAAAGGGCCATGGACTATTTCCCCAAGATTGAGATCAATCTCTCCACCAGA c.1980
D F V Q R A M D Y F P K I E I N L S T R p.660
. . . . . . g.10328
ATGGACCACATGGTTTCTTCCTTTTGCATTGAGAACTGTCATCGGGTGGAGTCACTGTCC c.2040
M D H M V S S F C I E N C H R V E S L S p.680
. . . . . . g.10388
CTGGGGTTTCTCCATAACATGCCCAAGGAGGAAGAGGAGGAGGAAAAGGAAGGCCGACAC c.2100
L G F L H N M P K E E E E E E K E G R H p.700
. . . . . | 04 . g.14433
CTTGATATGGTGCAGTGTGTCCTCCCAAGCTCCTCTCATGCTGCCTGTTCTCATGG | ATTG c.2160
L D M V Q C V L P S S S H A A C S H G | L p.720
. . . . . . g.14493
GTGAACAGCCACCTCACTTCCAGTTTTTGCCGGGGCCTCTTTTCAGTTCTGAGCACCAGC c.2220
V N S H L T S S F C R G L F S V L S T S p.740
. . . . . . g.14553
CAGAGTCTAACTGAATTGGACCTCAGTGACAATTCTCTGGGGGACCCAGGGATGAGAGTG c.2280
Q S L T E L D L S D N S L G D P G M R V p.760
. . . . | 05. . g.18960
TTGTGTGAAACGCTCCAGCATCCTGGCTGTAACATTCGGAGATTGTG | GTTGGGGCGCTGT c.2340
L C E T L Q H P G C N I R R L W | L G R C p.780
. . . . . . g.19020
GGCCTCTCGCATGAGTGCTGCTTCGACATCTCCTTGGTCCTCAGCAGCAACCAGAAGCTG c.2400
G L S H E C C F D I S L V L S S N Q K L p.800
. . . . . . g.19080
GTGGAGCTGGACCTGAGTGACAACGCCCTCGGTGACTTCGGAATCAGACTTCTGTGTGTG c.2460
V E L D L S D N A L G D F G I R L L C V p.820
. . . | 06 . . g.20836
GGACTGAAGCACCTGTTGTGCAATCTGAAGAAGCTCTG | GTTGGTCAGCTGCTGCCTCACA c.2520
G L K H L L C N L K K L W | L V S C C L T p.840
. . . . . . g.20896
TCAGCATGTTGTCAGGATCTTGCATCAGTATTGAGCACCAGCCATTCCCTGACCAGACTC c.2580
S A C C Q D L A S V L S T S H S L T R L p.860
. . . . . . g.20956
TATGTGGGGGAGAATGCCTTGGGAGACTCAGGAGTCGCAATTTTATGTGAAAAAGCCAAG c.2640
Y V G E N A L G D S G V A I L C E K A K p.880
. . | 07 . . . g.28847
AATCCACAGTGTAACCTGCAGAAACTGGG | GTTGGTGAATTCTGGCCTTACGTCAGTCTGT c.2700
N P Q C N L Q K L G | L V N S G L T S V C p.900
. . . . . . g.28907
TGTTCAGCTTTGTCCTCGGTACTCAGCACTAATCAGAATCTCACGCACCTTTACCTGCGA c.2760
C S A L S S V L S T N Q N L T H L Y L R p.920
. . . . . . g.28967
GGCAACACTCTCGGAGACAAGGGGATCAAACTACTCTGTGAGGGACTCTTGCACCCCGAC c.2820
G N T L G D K G I K L L C E G L L H P D p.940
. . | 08 . . . . g.29535
TGCAAGCTTCAGGTGTTGGA | ATTAGACAACTGCAACCTCACGTCACACTGCTGCTGGGAT c.2880
C K L Q V L E | L D N C N L T S H C C W D p.960
. . . . . . g.29595
CTTTCCACACTTCTGACCTCCAGCCAGAGCCTGCGAAAGCTGAGCCTGGGCAACAATGAC c.2940
L S T L L T S S Q S L R K L S L G N N D p.980
. . . . . . g.29655
CTGGGCGACCTGGGGGTCATGATGTTCTGTGAAGTGCTGAAACAGCAGAGCTGCCTCCTG c.3000
L G D L G V M M F C E V L K Q Q S C L L p.1000
. | 09 . . . . . g.33298
CAGAACCTGGG | GTTGTCTGAAATGTATTTCAATTATGAGACAAAAAGTGCGTTAGAAACA c.3060
Q N L G | L S E M Y F N Y E T K S A L E T p.1020
. . . . . g.33349
CTTCAAGAAGAAAAGCCTGAGCTGACCGTCGTCTTTGAGCCTTCTTGGTAG c.3111
L Q E E K P E L T V V F E P S W X p.1036
. . . . . . g.33409
gagtggaaacggggctgccagacgccagtgttctccggtccctccagctgggggccctca c.*60
. . . . . . g.33469
ggtggagagagctgcgatccatccaggccaagaccacagctctgtgatccttccggtgga c.*120
. . . . . . g.33529
gtgtcggagaagagagcttgccgacgatgccttcctgtgcagagcttgggcatctccttt c.*180
. . . . . . g.33589
acgccagggtgaggaagacaccaggacaatgacagcatcgggtgttgttgtcatcacagc c.*240
. . . . . . g.33649
gcctcagttagaggatgttcctcttggtgacctcatgtaattagctcattcaataaagca c.*300
. . . . . . g.33709
ctttctttatttttctcttctctgtctaactttctttttcctatcttttttcttctttgt c.*360
. . . . . . g.33769
tctgtttacttttgctcatatcatcattcccgctatctttctattaactgaccataacac c.*420
. . . . . . g.33829
agaactagttgactatatattatgttgaaattttatggcagctatttatttatttaaatt c.*480
. . . . . . g.33889
ttttgtaacagttttgttttctaataagaaaaatccatgctttttgtagctggttgaaaa c.*540
. . . . . . g.33949
ttcaggaatatgtaaaactttttggtatttaattaaattgattccttttcttaattttaa c.*600
g.33953
aaaa c.*604
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center