(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the IL21R gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering IL21R transcript NM_021798.3.
(upstream sequence)
. . . . . . g.26156
ctagaggcagctcagatagaggagctctttgggaagagacgccgggcaggcagaagcagc c.-61
. . . . . | 02 . g.28910
aggtaccccctccacatccctagggctctgtgatgtaggcagag | gcccgtgggagtcagc c.-1
. . . . | 03 . g.33196
ATGCCGCGTGGCTGGGCCGCCCCCTTGCTCCTGCTGCTGCTCCAGGGAG | GCTGGGGCTGC c.60
M P R G W A A P L L L L L L Q G G | W G C p.20
. . . . . . g.33256
CCCGACCTCGTCTGCTACACCGATTACCTCCAGACGGTCATCTGCATCCTGGAAATGTGG c.120
P D L V C Y T D Y L Q T V I C I L E M W p.40
. . . | 04 . . . g.36354
AACCTCCACCCCAGCACGCTCACCCTTACCTG | GCAAGACCAGTATGAAGAGCTGAAGGAC c.180
N L H P S T L T L T W | Q D Q Y E E L K D p.60
. . . . . . g.36414
GAGGCCACCTCCTGCAGCCTCCACAGGTCGGCCCACAATGCCACGCATGCCACCTACACC c.240
E A T S C S L H R S A H N A T H A T Y T p.80
. . . . . . g.36474
TGCCACATGGATGTATTCCACTTCATGGCCGACGACATTTTCAGTGTCAACATCACAGAC c.300
C H M D V F H F M A D D I F S V N I T D p.100
. . . . . | 05 . g.41808
CAGTCTGGCAACTACTCCCAGGAGTGTGGCAGCTTTCTCCTGGCTGAGAGCA | TCAAGCCG c.360
Q S G N Y S Q E C G S F L L A E S I | K P p.120
. . . . . . g.41868
GCTCCCCCTTTCAACGTGACTGTGACCTTCTCAGGACAGTATAATATCTCCTGGCGCTCA c.420
A P P F N V T V T F S G Q Y N I S W R S p.140
. . . . . . g.41928
GATTACGAAGACCCTGCCTTCTACATGCTGAAGGGCAAGCTTCAGTATGAGCTGCAGTAC c.480
D Y E D P A F Y M L K G K L Q Y E L Q Y p.160
. . | 06. . . . g.43413
AGGAACCGGGGAGACCCCTGGGCTGTG | AGTCCGAGGAGAAAGCTGATCTCAGTGGACTCA c.540
R N R G D P W A V | S P R R K L I S V D S p.180
. . . . . . g.43473
AGAAGTGTCTCCCTCCTCCCCCTGGAGTTCCGCAAAGACTCGAGCTATGAGCTGCAGGTG c.600
R S V S L L P L E F R K D S S Y E L Q V p.200
. . . . . . g.43533
CGGGCAGGGCCCATGCCTGGCTCCTCCTACCAGGGGACCTGGAGTGAATGGAGTGACCCG c.660
R A G P M P G S S Y Q G T W S E W S D P p.220
. . | 07 . . . . g.44050
GTCATCTTTCAGACCCAGTCAGAGG | AGTTAAAGGAAGGCTGGAACCCTCACCTGCTGCTT c.720
V I F Q T Q S E E | L K E G W N P H L L L p.240
. . . . . . g.44110
CTCCTCCTGCTTGTCATAGTCTTCATTCCTGCCTTCTGGAGCCTGAAGACCCATCCATTG c.780
L L L L V I V F I P A F W S L K T H P L p.260
| 08 . . . . . . g.44900
TGGAG | GCTATGGAAGAAGATATGGGCCGTCCCCAGCCCTGAGCGGTTCTTCATGCCCCTG c.840
W R | L W K K I W A V P S P E R F F M P L p.280
. . | 09. . . . g.47405
TACAAGGGCTGCAGCGGAGACTTCAAG | AAATGGGTGGGTGCACCCTTCACTGGCTCCAGC c.900
Y K G C S G D F K | K W V G A P F T G S S p.300
. . . . . . g.47465
CTGGAGCTGGGACCCTGGAGCCCAGAGGTGCCCTCCACCCTGGAGGTGTACAGCTGCCAC c.960
L E L G P W S P E V P S T L E V Y S C H p.320
. . . . . . g.47525
CCACCACGGAGCCCGGCCAAGAGGCTGCAGCTCACGGAGCTACAAGAACCAGCAGAGCTG c.1020
P P R S P A K R L Q L T E L Q E P A E L p.340
. . . . . . g.47585
GTGGAGTCTGACGGTGTGCCCAAGCCCAGCTTCTGGCCGACAGCCCAGAACTCGGGGGGC c.1080
V E S D G V P K P S F W P T A Q N S G G p.360
. . . . . . g.47645
TCAGCTTACAGTGAGGAGAGGGATCGGCCATACGGCCTGGTGTCCATTGACACAGTGACT c.1140
S A Y S E E R D R P Y G L V S I D T V T p.380
. . . . . . g.47705
GTGCTAGATGCAGAGGGGCCATGCACCTGGCCCTGCAGCTGTGAGGATGACGGCTACCCA c.1200
V L D A E G P C T W P C S C E D D G Y P p.400
. . . . . . g.47765
GCCCTGGACCTGGATGCTGGCCTGGAGCCCAGCCCAGGCCTAGAGGACCCACTCTTGGAT c.1260
A L D L D A G L E P S P G L E D P L L D p.420
. . . . . . g.47825
GCAGGGACCACAGTCCTGTCCTGTGGCTGTGTCTCAGCTGGCAGCCCTGGGCTAGGAGGG c.1320
A G T T V L S C G C V S A G S P G L G G p.440
. . . . . . g.47885
CCCCTGGGAAGCCTCCTGGACAGACTAAAGCCACCCCTTGCAGATGGGGAGGACTGGGCT c.1380
P L G S L L D R L K P P L A D G E D W A p.460
. . . . . . g.47945
GGGGGACTGCCCTGGGGTGGCCGGTCACCTGGAGGGGTCTCAGAGAGTGAGGCGGGCTCA c.1440
G G L P W G G R S P G G V S E S E A G S p.480
. . . . . . g.48005
CCCCTGGCCGGCCTGGATATGGACACGTTTGACAGTGGCTTTGTGGGCTCTGACTGCAGC c.1500
P L A G L D M D T F D S G F V G S D C S p.500
. . . . . . g.48065
AGCCCTGTGGAGTGTGACTTCACCAGCCCCGGGGACGAAGGACCCCCCCGGAGCTACCTC c.1560
S P V E C D F T S P G D E G P P R S Y L p.520
. . . . . g.48122
CGCCAGTGGGTGGTCATTCCTCCGCCACTTTCGAGCCCTGGACCCCAGGCCAGCTAA c.1617
R Q W V V I P P P L S S P G P Q A S X p.538
. . . . . . g.48182
tgaggctgactggatgtccagagctggccaggccactgggccctgagccagagacaaggt c.*60
. . . . . . g.48242
cacctgggctgtgatgtgaagacacctgcagcctttggtctcctggatgggcctttgagc c.*120
. . . . . . g.48302
ctgatgtttacagtgtctgtgtgtgtgtgtgcatatgtgtgtgtgtgcatatgcatgtgt c.*180
. . . . . . g.48362
gtgtgtgtgtgtgtcttaggtgcgcagtggcatgtccacgtgtgtgtgtgattgcacgtg c.*240
. . . . . . g.48422
cctgtgggcctgggataatgcccatggtactccatgcattcacctgccctgtgcatgtct c.*300
. . . . . . g.48482
ggactcacggagctcacccatgtgcacaagtgtgcacagtaaacgtgtttgtggtcaaca c.*360
. . . . . . g.48542
gatgacaacagccgtcctccctcctagggtcttgtgttgcaagttggtccacagcatctc c.*420
. . . . . . g.48602
cggggctttgtgggatcagggcattgcctgtgactgaggcggagcccagccctccagcgt c.*480
. . . . . . g.48662
ctgcctccaggagctgcaagaagtccatattgttccttatcacctgccaacaggaagcga c.*540
. . . . . . g.48722
aaggggatggagtgagcccatggtgacctcgggaatggcaattttttgggcggcccctgg c.*600
. . . . . . g.48782
acgaaggtctgaatcccgactctgataccttctggctgtgctacctgagccaagtcgcct c.*660
. . . . . . g.48842
cccctctctgggctagagtttccttatccagacagtggggaaggcatgacacacctgggg c.*720
. . . . . . g.48902
gaaattggcgatgtcacccgtgtacggtacgcagcccagagcagaccctcaataaacgtc c.*780
. . . . . . g.48962
agcttccttccttctgcggccagagccgaggcgggcgggggtgagaacatcaatcgtcag c.*840
. . . . . . g.49022
cgacagcctgggcacccgcggggccgtcccgcctgcagagggccactcgggggggtttcc c.*900
. . . . . . g.49082
aggcttaaaatcagtccgtttcgtctcttggaaacagctccccaccaaccaagatttctt c.*960
. . . . . . g.49142
tttctaacttctgctactaagtttttaaaaattccctttatgcacccaagagatatttat c.*1020
. . . . . . g.49202
taaacaccaattacgtagcaggccatggctcatgggacccaccccccgtggcactcatgg c.*1080
. . . . . . g.49262
agggggctgcaggttggaactatgcagtgtgctccggccacacatcctgctgggccccct c.*1140
. . . . . . g.49322
accctgccccaattcaatcctgccaataaatcctgtcttatttgttcatcctggagaatt c.*1200
. . . . . . g.49382
gaagggaggtcaagttgtttgtcaatgatttgtcagagaacctgttgaaatgtgaattaa c.*1260
. . . . . . g.49442
gaagctaagaaaatatttcttagcaacattttctttttcttttttttttttttcttttga c.*1320
. . . . . . g.49502
gacagagtctcactctcgtcgcccaggctggaatgcagtggtgcgatctcggctctctgc c.*1380
. . . . . . g.49562
aacctctgtctcccgggttcaagcgatttcctgcgtcagccccagagtagctggaattac c.*1440
. . . . . . g.49622
aggcacacaccaccacgcctggctaatttttgtatttttagtagagctggggccaccctg c.*1500
. . . . . . g.49682
gcccggccccgtcttcctccccaaaggtcagactgcaggctgcagggctgtgctggagga c.*1560
. . . . . . g.49742
gccagctctagctcacccatgcttttgcaacagggtcgggttggaagtcagcacaggtca c.*1620
. . . . . . g.49802
gtcctgcggaaggttccttcgtgactcatctgtgaagtggggtggttgggagaggtagct c.*1680
. . . . . . g.49862
gagagaatgcatgagagtcctcggtgcctggcaggaggctggaaggttctagaacactga c.*1740
. . . . . . g.49922
tggttataagagtgggactgtgagcctgggatcggggggtgtgagacttggatgggagca c.*1800
. . . . . . g.49982
caagagtggaaacacagcttctgcacggagcaggcgcagccctcaacaccccgtgcacct c.*1860
. . . . . . g.50042
gcaccctagggactcttgggtccagatgtgctgtggttttcacaccttcttgggggcaac c.*1920
. . . . . . g.50102
aggttccaggagccacctgtgggtgccacctgagccacaggctcccaggaaagcagcaca c.*1980
. . . . . . g.50162
gctctcctgcacccagagcttgctgggtggcggaggggaacacagatggttggggaaggc c.*2040
. . . . . . g.50222
ctgaggccagattgggggactctggactggggcagatgaggctcctcagaatcccacctt c.*2100
. . . . . . g.50282
tgaagggaactcagcttataaacacagaggagcaaagttggagggccgggcgtagtggct c.*2160
. . . . . . g.50342
cacacctgtgatctcagcactttgggaggccaaggaaggtggatcacttgaggccaggag c.*2220
. . . . . . g.50402
ttcgagaccagcctgggcaacatagcaaggccccatctctacaaaaattattatttttta c.*2280
. . . . . . g.50462
aaaaaattagccaggtgtggtggtgcttgcctatagtcccagctactcgggaggctaagg c.*2340
. . . . . . g.50522
tgggaggatcgctggagcccaggaatttgaggctgcagtgagctgtgattacaccgttgc c.*2400
. . . . . . g.50582
actccagcctgggtcacagatcaagaccctgtctcttaaaaataaaagttggagacaaga c.*2460
. . . . . . g.50642
gctggctcacctgaaaggagggattagtaggtaggagggtggatggaggatggatggatg c.*2520
. . . . . . g.50702
tgtgggtggataggaagatggtattaagttggtgcaaaagtctttgatattactcttaat c.*2580
. . . . . . g.50762
ggctttaataaaaagcttgaaggaagaatgattggttggatagacagagataaatgcata c.*2640
. . . . . . g.50822
ctggaaacaaagataaagataaaacacaagttataccaggccagcaactctattttgttc c.*2700
. . . . . g.50881
actgcctttagtcccagcctggcacatagtaggcactcaataaagcctgatttgtagca c.*2759
(downstream sequence)
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