(used for variant description)
(last modified August 17, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005535.1 in the IL12RB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007366.1, covering IL12RB1 transcript NM_005535.1.
(upstream sequence)
g.5004
ggtg c.-61
. . . . . . g.5064
gctgaacctcgcaggtggcagagaggctcccctggggctgtggggctctacgtggatccg c.-1
. . . . . . g.5124
ATGGAGCCGCTGGTGACCTGGGTGGTCCCCCTCCTCTTCCTCTTCCTGCTGTCCAGGCAG c.60
M E P L V T W V V P L L F L F L L S R Q p.20
| 02 . . . . . . g.8452
GGCG | CTGCCTGCAGAACCAGTGAGTGCTGTTTTCAGGACCCGCCATATCCGGATGCAGAC c.120
G A | A C R T S E C C F Q D P P Y P D A D p.40
| 03 . . . . . . g.9679
TCAG | GCTCGGCCTCGGGCCCTAGGGACCTGAGATGCTATCGGATATCCAGTGATCGTTAC c.180
S G | S A S G P R D L R C Y R I S S D R Y p.60
. . . . . | 04 g.10887
GAGTGCTCCTGGCAGTATGAGGGTCCCACAGCTGGGGTCAGCCACTTCCTGCGGTGTTG | C c.240
E C S W Q Y E G P T A G V S H F L R C C | p.80
. . . . . . g.10947
CTTAGCTCCGGGCGCTGCTGCTACTTCGCCGCCGGCTCAGCCACCAGGCTGCAGTTCTCC c.300
L S S G R C C Y F A A G S A T R L Q F S p.100
. . . . . . g.11007
GACCAGGCTGGGGTGTCTGTGCTGTACACTGTCACACTCTGGGTGGAATCCTGGGCCAGG c.360
D Q A G V S V L Y T V T L W V E S W A R p.120
. . . . | 05 . g.14243
AACCAGACAGAGAAGTCTCCTGAGGTGACCCTGCAGCTCTACAACTCAG | TTAAATATGAG c.420
N Q T E K S P E V T L Q L Y N S V | K Y E p.140
. . . . . . g.14303
CCTCCTCTGGGAGACATCAAGGTGTCCAAGTTGGCCGGGCAGCTGCGTATGGAGTGGGAG c.480
P P L G D I K V S K L A G Q L R M E W E p.160
. . . . . . g.14363
ACCCCGGATAACCAGGTTGGTGCTGAGGTGCAGTTCCGGCACCGGACACCCAGCAGCCCA c.540
T P D N Q V G A E V Q F R H R T P S S P p.180
| 06 . . . | 07 . . g.16039
TGGAAGTTG | GGCGACTGCGGACCTCAGGATGATGATACTG | AGTCCTGCCTCTGCCCCCTG c.600
W K L | G D C G P Q D D D T E | S C L C P L p.200
. . . . . . g.16099
GAGATGAATGTGGCCCAGGAATTCCAGCTCCGACGACGGCAGCTGGGGAGCCAAGGAAGT c.660
E M N V A Q E F Q L R R R Q L G S Q G S p.220
. . . . | 08 . . g.18308
TCCTGGAGCAAGTGGAGCAGCCCCGTGTGCGTTCCCCCTG | AAAACCCCCCACAGCCTCAG c.720
S W S K W S S P V C V P P E | N P P Q P Q p.240
. . . . . . g.18368
GTGAGATTCTCGGTGGAGCAGCTGGGCCAGGATGGGAGGAGGCGGCTGACCCTGAAAGAG c.780
V R F S V E Q L G Q D G R R R L T L K E p.260
| 09 . . . . . . g.19595
CAG | CCAACCCAGCTGGAGCTTCCAGAAGGCTGTCAAGGGCTGGCGCCTGGCACGGAGGTC c.840
Q | P T Q L E L P E G C Q G L A P G T E V p.280
. . . . . . g.19655
ACTTACCGACTACAGCTCCACATGCTGTCCTGCCCGTGTAAGGCCAAGGCCACCAGGACC c.900
T Y R L Q L H M L S C P C K A K A T R T p.300
. . . . . . g.19715
CTGCACCTGGGGAAGATGCCCTATCTCTCGGGTGCTGCCTACAACGTGGCTGTCATCTCC c.960
L H L G K M P Y L S G A A Y N V A V I S p.320
. . . . . . g.19775
TCGAACCAATTTGGTCCTGGCCTGAACCAGACGTGGCACATTCCTGCCGACACCCACACA c.1020
S N Q F G P G L N Q T W H I P A D T H T p.340
| 10 . . . . . . g.22233
G | AACCAGTGGCTCTGAATATCAGCGTCGGAACCAACGGGACCACCATGTATTGGCCAGCC c.1080
E | P V A L N I S V G T N G T T M Y W P A p.360
. . . . . . g.22293
CGGGCTCAGAGCATGACGTATTGCATTGAATGGCAGCCTGTGGGCCAGGACGGGGGCCTT c.1140
R A Q S M T Y C I E W Q P V G Q D G G L p.380
. . . . | 11 . g.23372
GCCACCTGCAGCCTGACTGCGCCGCAAGACCCGGATCCGGCTGGAATGG | CAACCTACAGC c.1200
A T C S L T A P Q D P D P A G M A | T Y S p.400
. . . . . . g.23432
TGGAGTCGAGAGTCTGGGGCAATGGGGCAGGAAAAGTGTTACTACATTACCATCTTTGCC c.1260
W S R E S G A M G Q E K C Y Y I T I F A p.420
. . . . . . g.23492
TCTGCGCACCCCGAGAAGCTCACCTTGTGGTCTACGGTCCTGTCCACCTACCACTTTGGG c.1320
S A H P E K L T L W S T V L S T Y H F G p.440
| 12. . . . . . g.25243
GGCAATG | CCTCAGCAGCTGGGACACCGCACCACGTCTCGGTGAAGAATCATAGCTTGGAC c.1380
G N A | S A A G T P H H V S V K N H S L D p.460
. . . . . . g.25303
TCTGTGTCTGTGGACTGGGCACCATCCCTGCTGAGCACCTGTCCCGGCGTCCTAAAGGAG c.1440
S V S V D W A P S L L S T C P G V L K E p.480
. . . . | 13 . . g.27894
TATGTTGTCCGCTGCCGAGATGAAGACAGCAAACAGGTGTCAG | AGCATCCCGTGCAGCCC c.1500
Y V V R C R D E D S K Q V S E | H P V Q P p.500
. . . . . . g.27954
ACAGAGACCCAAGTTACCCTCAGTGGCCTGCGGGCTGGTGTAGCCTACACGGTGCAGGTG c.1560
T E T Q V T L S G L R A G V A Y T V Q V p.520
. . . . . | 14 g.29612
CGAGCAGACACAGCGTGGCTGAGGGGTGTCTGGAGCCAGCCCCAGCGCTTCAGCATCG | AA c.1620
R A D T A W L R G V W S Q P Q R F S I E | p.540
. . . . . . g.29672
GTGCAGGTTTCTGATTGGCTCATCTTCTTCGCCTCCCTGGGGAGCTTCCTGAGCATCCTT c.1680
V Q V S D W L I F F A S L G S F L S I L p.560
. . . | 15 . . . g.30715
CTCGTGGGCGTCCTTGGCTACCTTGGCCTGAACAG | GGCCGCACGGCACCTGTGCCCGCCG c.1740
L V G V L G Y L G L N R | A A R H L C P P p.580
. . . . . | 16 . g.31811
CTGCCCACACCCTGTGCCAGCTCCGCCATTGAGTTCCCTGGAGGGAAGGAG | ACTTGGCAG c.1800
L P T P C A S S A I E F P G G K E | T W Q p.600
. . . . . . g.31871
TGGATCAACCCAGTGGACTTCCAGGAAGAGGCATCCCTGCAGGAGGCCCTGGTGGTAGAG c.1860
W I N P V D F Q E E A S L Q E A L V V E p.620
. . . . . . g.31931
ATGTCCTGGGACAAAGGCGAGAGGACTGAGCCTCTCGAGAAGACAGAGCTACCTGAGGGT c.1920
M S W D K G E R T E P L E K T E L P E G p.640
. . . . . . g.31991
GCCCCTGAGCTGGCCCTGGATACAGAGTTGTCCTTGGAGGATGGAGACAGGTGCAAGGCC c.1980
A P E L A L D T E L S L E D G D R C K A p.660
| 17 g.32331
AAG | ATGTGA c.1989
K | M X p.662
. . . . g.32378
tcgttgaggctcagagagggtgagtgactcgcccgaggctacgtagc c.*47
(downstream sequence)
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