(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the NOD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering NOD2 transcript NM_022162.1.
(upstream sequence)
. . . . g.4588
gtagacagatccaggctcaccagtcctgtgccactgggcttttgg c.-61
. . . . . . g.4648
cgttctgcacaaggcctacccgcagatgccatgcctgctcccccagcctaatgggctttg c.-1
. . . . . . g.4708
ATGGGGGAAGAGGGTGGTTCAGCCTCTCACGATGAGGAGGAAAGAGCAAGTGTCCTCCTC c.60
M G E E G G S A S H D E E E R A S V L L p.20
. | 02 . . . . . g.6939
GGACATTCTCCGG | GTTGTGAAATGTGCTCGCAGGAGGCTTTTCAGGCACAGAGGAGCCAG c.120
G H S P G | C E M C S Q E A F Q A Q R S Q p.40
. . . . . . g.6999
CTGGTCGAGCTGCTGGTCTCAGGGTCCCTGGAAGGCTTCGAGAGTGTCCTGGACTGGCTG c.180
L V E L L V S G S L E G F E S V L D W L p.60
. . . . . . g.7059
CTGTCCTGGGAGGTCCTCTCCTGGGAGGACTACGAGGGCTTCCACCTCCTGGGCCAGCCT c.240
L S W E V L S W E D Y E G F H L L G Q P p.80
. . . . . . g.7119
CTCTCCCACTTGGCCAGGCGCCTTCTGGACACCGTCTGGAATAAGGGTACTTGGGCCTGT c.300
L S H L A R R L L D T V W N K G T W A C p.100
. . . . . . g.7179
CAGAAGCTCATCGCGGCTGCCCAAGAAGCCCAGGCCGACAGCCAGTCCCCCAAGCTGCAT c.360
Q K L I A A A Q E A Q A D S Q S P K L H p.120
. . . . . . g.7239
GGCTGCTGGGACCCCCACTCGCTCCACCCAGCCCGAGACCTGCAGAGTCACCGGCCAGCC c.420
G C W D P H S L H P A R D L Q S H R P A p.140
. . . . . . g.7299
ATTGTCAGGAGGCTCCACAGCCATGTGGAGAACATGCTGGACCTGGCATGGGAGCGGGGT c.480
I V R R L H S H V E N M L D L A W E R G p.160
. . . . . . g.7359
TTCGTCAGCCAGTATGAATGTGATGAAATCAGGTTGCCGATCTTCACACCGTCCCAGAGG c.540
F V S Q Y E C D E I R L P I F T P S Q R p.180
| 03 . . . . . . g.15319
| GCAAGAAGGCTGCTTGATCTTGCCACGGTGAAAGCGAATGGATTGGCTGCCTTCCTTCTA c.600
| A R R L L D L A T V K A N G L A A F L L p.200
. . . . | 04 . . g.17976
CAACATGTTCAGGAATTACCAGTCCCATTGGCCCTGCCTTTGGAAG | CTGCCACATGCAAG c.660
Q H V Q E L P V P L A L P L E A | A T C K p.220
. . . . . . g.18036
AAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACCTAT c.720
K Y M A K L R T T V S A Q S R F L S T Y p.240
. . . . . . g.18096
GATGGAGCAGAGACGCTCTGCCTGGAGGACATATACACAGAGAATGTCCTGGAGGTCTGG c.780
D G A E T L C L E D I Y T E N V L E V W p.260
. . . . . . g.18156
GCAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCCACCCTGGGCCTGGAGGAG c.840
A D V G M A G P P Q K S P A T L G L E E p.280
. . . . . . g.18216
CTCTTCAGCACCCCTGGCCACCTCAATGACGATGCGGACACTGTGCTGGTGGTGGGTGAG c.900
L F S T P G H L N D D A D T V L V V G E p.300
. . . . . . g.18276
GCGGGCAGTGGCAAGAGCACGCTCCTGCAGCGGCTGCACTTGCTGTGGGCTGCAGGGCAA c.960
A G S G K S T L L Q R L H L L W A A G Q p.320
. . . . . . g.18336
GACTTCCAGGAATTTCTCTTTGTCTTCCCATTCAGCTGCCGGCAGCTGCAGTGCATGGCC c.1020
D F Q E F L F V F P F S C R Q L Q C M A p.340
. . . . . . g.18396
AAACCACTCTCTGTGCGGACTCTACTCTTTGAGCACTGCTGTTGGCCTGATGTTGGTCAA c.1080
K P L S V R T L L F E H C C W P D V G Q p.360
. . . . . . g.18456
GAAGACATCTTCCAGTTACTCCTTGACCACCCTGACCGTGTCCTGTTAACCTTTGATGGC c.1140
E D I F Q L L L D H P D R V L L T F D G p.380
. . . . . . g.18516
TTTGACGAGTTCAAGTTCAGGTTCACGGATCGTGAACGCCACTGCTCCCCGACCGACCCC c.1200
F D E F K F R F T D R E R H C S P T D P p.400
. . . . . . g.18576
ACCTCTGTCCAGACCCTGCTCTTCAACCTTCTGCAGGGCAACCTGCTGAAGAATGCCCGC c.1260
T S V Q T L L F N L L Q G N L L K N A R p.420
. . . . . . g.18636
AAGGTGGTGACCAGCCGTCCGGCCGCTGTGTCGGCGTTCCTCAGGAAGTACATCCGCACC c.1320
K V V T S R P A A V S A F L R K Y I R T p.440
. . . . . . g.18696
GAGTTCAACCTCAAGGGCTTCTCTGAACAGGGCATCGAGCTGTACCTGAGGAAGCGCCAT c.1380
E F N L K G F S E Q G I E L Y L R K R H p.460
. . . . . . g.18756
CATGAGCCCGGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTCAGCCCTGCAC c.1440
H E P G V A D R L I R L L Q E T S A L H p.480
. . . . . . g.18816
GGTTTGTGCCACCTGCCTGTCTTCTCATGGATGGTGTCCAAATGCCACCAGGAACTGTTG c.1500
G L C H L P V F S W M V S K C H Q E L L p.500
. . . . . . g.18876
CTGCAGGAGGGGGGGTCCCCAAAGACCACTACAGATATGTACCTGCTGATTCTGCAGCAT c.1560
L Q E G G S P K T T T D M Y L L I L Q H p.520
. . . . . . g.18936
TTTCTGCTGCATGCCACCCCCCCAGACTCAGCTTCCCAAGGTCTGGGACCCAGTCTTCTT c.1620
F L L H A T P P D S A S Q G L G P S L L p.540
. . . . . . g.18996
CGGGGCCGCCTCCCCACCCTCCTGCACCTGGGCAGACTGGCTCTGTGGGGCCTGGGCATG c.1680
R G R L P T L L H L G R L A L W G L G M p.560
. . . . . . g.19056
TGCTGCTACGTGTTCTCAGCCCAGCAGCTCCAGGCAGCACAGGTCAGCCCTGATGACATT c.1740
C C Y V F S A Q Q L Q A A Q V S P D D I p.580
. . . . . . g.19116
TCTCTTGGCTTCCTGGTGCGTGCCAAAGGTGTCGTGCCAGGGAGTACGGCGCCCCTGGAA c.1800
S L G F L V R A K G V V P G S T A P L E p.600
. . . . . . g.19176
TTCCTTCACATCACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCAGTGCTGAT c.1860
F L H I T F Q C F F A A F Y L A L S A D p.620
. . . . . . g.19236
GTGCCACCAGCTTTGCTCAGACACCTCTTCAATTGTGGCAGGCCAGGCAACTCACCAATG c.1920
V P P A L L R H L F N C G R P G N S P M p.640
. . . . . . g.19296
GCCAGGCTCCTGCCCACGATGTGCATCCAGGCCTCGGAGGGAAAGGACAGCAGCGTGGCA c.1980
A R L L P T M C I Q A S E G K D S S V A p.660
. . . . . . g.19356
GCTTTGCTGCAGAAGGCCGAGCCGCACAACCTTCAGATCACAGCAGCCTTCCTGGCAGGG c.2040
A L L Q K A E P H N L Q I T A A F L A G p.680
. . . . . . g.19416
CTGTTGTCCCGGGAGCACTGGGGCCTGCTGGCTGAGTGCCAGACATCTGAGAAGGCCCTG c.2100
L L S R E H W G L L A E C Q T S E K A L p.700
. . . . . . g.19476
CTCCGGCGCCAGGCCTGTGCCCGCTGGTGTCTGGCCCGCAGCCTCCGCAAGCACTTCCAC c.2160
L R R Q A C A R W C L A R S L R K H F H p.720
. . . . . . g.19536
TCCATCCCGCCAGCTGCACCGGGTGAGGCCAAGAGCGTGCATGCCATGCCCGGGTTCATC c.2220
S I P P A A P G E A K S V H A M P G F I p.740
. . . . . . g.19596
TGGCTCATCCGGAGCCTGTACGAGATGCAGGAGGAGCGGCTGGCTCGGAAGGCTGCACGT c.2280
W L I R S L Y E M Q E E R L A R K A A R p.760
. . . . . . g.19656
GGCCTGAATGTTGGGCACCTCAAGTTGACATTTTGCAGTGTGGGCCCCACTGAGTGTGCT c.2340
G L N V G H L K L T F C S V G P T E C A p.780
. . . . . . g.19716
GCCCTGGCCTTTGTGCTGCAGCACCTCCGGCGGCCCGTGGCCCTGCAGCTGGACTACAAC c.2400
A L A F V L Q H L R R P V A L Q L D Y N p.800
. . . . . . g.19776
TCTGTGGGTGACATTGGCGTGGAGCAGCTGCTGCCTTGCCTTGGTGTCTGCAAGGCTCTG c.2460
S V G D I G V E Q L L P C L G V C K A L p.820
| 05 . . . . . . g.24049
TA | TTTGCGCGATAACAATATCTCAGACCGAGGCATCTGCAAGCTCATTGAATGTGCTCTT c.2520
Y | L R D N N I S D R G I C K L I E C A L p.840
. . | 06 . . . . g.24329
CACTGCGAGCAATTGCAGAAGTTAGC | TCTATTCAACAACAAATTGACTGACGGCTGTGCA c.2580
H C E Q L Q K L A | L F N N K L T D G C A p.860
. . . . . | 07 . g.27339
CACTCCATGGCTAAGCTCCTTGCATGCAGGCAGAACTTCTTGGCATTGAG | GCTGGGGAAT c.2640
H S M A K L L A C R Q N F L A L R | L G N p.880
. . . . . . g.27399
AACTACATCACTGCCGCGGGAGCCCAAGTGCTGGCCGAGGGGCTCCGAGGCAACACCTCC c.2700
N Y I T A A G A Q V L A E G L R G N T S p.900
. | 08 . . . . . g.30072
TTGCAGTTCCTGGG | ATTCTGGGGCAACAGAGTGGGTGACGAGGGGGCCCAGGCCCTGGCT c.2760
L Q F L G | F W G N R V G D E G A Q A L A p.920
. . . | 09 . . g.30727
GAAGCCTTGGGTGATCACCAGAGCTTGAGGTGGCTCAG | CCTGGTGGGGAACAACATTGGC c.2820
E A L G D H Q S L R W L S | L V G N N I G p.940
. . . . . . g.30787
AGTGTGGGTGCCCAAGCCTTGGCACTGATGCTGGCAAAGAACGTCATGCTAGAAGAACTC c.2880
S V G A Q A L A L M L A K N V M L E E L p.960
| 10 . . . . . . g.32951
TG | CCTGGAGGAGAACCATCTCCAGGATGAAGGTGTATGTTCTCTCGCAGAAGGACTGAAG c.2940
C | L E E N H L Q D E G V C S L A E G L K p.980
. . | 11 . . . . g.37256
AAAAATTCAAGTTTGAAAATCCTGAA | GTTGTCCAATAACTGCATCACCTACCTAGGGGCA c.3000
K N S S L K I L K | L S N N C I T Y L G A p.1000
. . . . . | 12 . g.39161
GAAGCCCTCCTGCAGGCCCTTGAAAGGAATGACACCATCCTGGAAGTCTG | GCTCCGAGGG c.3060
E A L L Q A L E R N D T I L E V W | L R G p.1020
. . . . . . g.39221
AACACTTTCTCTCTAGAGGAGGTTGACAAGCTCGGCTGCAGGGACACCAGACTCTTGCTT c.3120
N T F S L E E V D K L G C R D T R L L L p.1040
g.39224
TGA c.3123
X p.1040
. . . . . . g.39284
agtctccgggaggatgttcgtctcagtttgtttgtgagcaggctgtgagtttgggcccca c.*60
. . . . . . g.39344
gaggctgggtgacatgtgttggcagcctcttcaaaatgagccctgtcctgcctaaggctg c.*120
. . . . . . g.39404
aacttgttttctgggaacaccataggtcacctttattctggcagaggagggagcatcagt c.*180
. . . . . . g.39464
gccctccaggatagacttttcccaagcctacttttgccattgacttcttcccaagattca c.*240
. . . . . . g.39524
atcccaggatgtacaaggacagcccctcctccatagtatgggactggcctctgctgatcc c.*300
. . . . . . g.39584
tcccaggcttccgtgtgggtcagtggggcccatggatgtgcttgttaactgagtgccttt c.*360
. . . . . . g.39644
tggtggagaggcccggcctctcacaaaagaccccttaccactgctctgatgaagaggagt c.*420
. . . . . . g.39704
acacagaacacataattcaggaagcagctttccccatgtctcgactcatccatccaggcc c.*480
. . . . . . g.39764
attccccgtctctggttcctcccctcctcctggactcctgcacacgctccttcctctgag c.*540
. . . . . . g.39824
gctgaaattcagaatattagtgacctcagctttgatatttcacttacagcacccccaacc c.*600
. . . . . . g.39884
ctggcacccagggtgggaagggctacaccttagcctgccctcctttccggtgtttaagac c.*660
. . . . . . g.39944
atttttggaaggggacacgtgacagccgtttgttccccaagacattctaggtttgcaaga c.*720
. . . . . . g.40004
aaaatatgaccacactccagctgggatcacatgtggacttttatttccagtgaaatcagt c.*780
. . . . . . g.40064
tactcttcagttaagcctttggaaacagctcgactttaaaaagctccaaatgcagcttta c.*840
. . . . . . g.40124
aaaaattaatctgggccagaatttcaaacggcctcactaggcttctggttgatgcctgtg c.*900
. . . . . . g.40184
aactgaactctgacaacagacttctgaaatagacccacaagaggcagttccatttcattt c.*960
. . . . . . g.40244
gtgccagaatgctttaggatgtacagttatggattgaaagtttacaggaaaaaaaattag c.*1020
. . . . . . g.40304
gccgttccttcaaagcaaatgtcttcctggattattcaaaatgatgtatgttgaagcctt c.*1080
. . . . . . g.40364
tgtaaattgtcagatgctgtgcaaatgttattattttaaacattatgatgtgtgaaaact c.*1140
. . . . . . g.40424
ggttaatatttataggtcactttgttttactgtcttaagtttatactcttatagacaaca c.*1200
. . . . . g.40481
tggccgtgaactttatgctgtaaataatcagaggggaataaactgttgagtcaaaac c.*1257
(downstream sequence)
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