(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the IL10RA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering IL10RA transcript NM_001558.3.
(upstream sequence)
. g.1017
gtcagtcccagcccaag c.-61
. . . . . . g.1077
ggtagctggaggcgcgcaggccggctccgctccggccccggacgatgcggcgcgcccagg c.-1
. . . . . . g.1137
ATGCTGCCGTGCCTCGTAGTGCTGCTGGCGGCGCTCCTCAGCCTCCGTCTTGGCTCAGAC c.60
M L P C L V V L L A A L L S L R L G S D p.20
| 02. . . . . . g.3044
GCTCATG | GGACAGAGCTGCCCAGCCCTCCGTCTGTGTGGTTTGAAGCAGAATTTTTCCAC c.120
A H G | T E L P S P P S V W F E A E F F H p.40
. . . . . . g.3104
CACATCCTCCACTGGACACCCATCCCAAATCAGTCTGAAAGTACCTGCTATGAAGTGGCG c.180
H I L H W T P I P N Q S E S T C Y E V A p.60
| 03 . . . . . g.4103
CTCCTGAG | GTATGGAATAGAGTCCTGGAACTCCATCTCCAACTGTAGCCAGACCCTGTCC c.240
L L R | Y G I E S W N S I S N C S Q T L S p.80
. . . . . . g.4163
TATGACCTTACCGCAGTGACCTTGGACCTGTACCACAGCAATGGCTACCGGGCCAGAGTG c.300
Y D L T A V T L D L Y H S N G Y R A R V p.100
. . . . . . g.4223
CGGGCTGTGGACGGCAGCCGGCACTCCAACTGGACCGTCACCAACACCCGCTTCTCTGTG c.360
R A V D G S R H S N W T V T N T R F S V p.120
| 04. . . . . . g.7903
GATGAAG | TGACTCTGACAGTTGGCAGTGTGAACCTAGAGATCCACAATGGCTTCATCCTC c.420
D E V | T L T V G S V N L E I H N G F I L p.140
. . . . . . g.7963
GGGAAGATTCAGCTACCCAGGCCCAAGATGGCCCCCGCAAATGACACATATGAAAGCATC c.480
G K I Q L P R P K M A P A N D T Y E S I p.160
. . . . . | 05. g.8611
TTCAGTCACTTCCGAGAGTATGAGATTGCCATTCGCAAGGTGCCGGGAAACTTCACG | TTC c.540
F S H F R E Y E I A I R K V P G N F T | F p.180
. . . . . . g.8671
ACACACAAGAAAGTAAAACATGAAAACTTCAGCCTCCTAACCTCTGGAGAAGTGGGAGAG c.600
T H K K V K H E N F S L L T S G E V G E p.200
. . . . . . g.8731
TTCTGTGTCCAGGTGAAACCATCTGTCGCTTCCCGAAGTAACAAGGGGATGTGGTCTAAA c.660
F C V Q V K P S V A S R S N K G M W S K p.220
. . | 06 . . . g.10230
GAGGAGTGCATCTCCCTCACCAGGCAGT | ATTTCACCGTGACCAACGTCATCATCTTCTTT c.720
E E C I S L T R Q Y | F T V T N V I I F F p.240
. . . . . . g.10290
GCCTTTGTCCTGCTGCTCTCCGGAGCCCTCGCCTACTGCCTGGCCCTCCAGCTGTATGTG c.780
A F V L L L S G A L A Y C L A L Q L Y V p.260
. . . | 07 . . . g.13354
CGGCGCCGAAAGAAGCTACCCAGTGTCCTG | CTCTTCAAGAAGCCCAGCCCCTTCATCTTC c.840
R R R K K L P S V L | L F K K P S P F I F p.280
. . . . . . g.13414
ATCAGCCAGCGTCCCTCCCCAGAGACCCAAGACACCATCCACCCGCTTGATGAGGAGGCC c.900
I S Q R P S P E T Q D T I H P L D E E A p.300
. . . . . . g.13474
TTTTTGAAGGTGTCCCCAGAGCTGAAGAACTTGGACCTGCACGGCAGCACAGACAGTGGC c.960
F L K V S P E L K N L D L H G S T D S G p.320
. . . . . . g.13534
TTTGGCAGCACCAAGCCATCCCTGCAGACTGAAGAGCCCCAGTTCCTCCTCCCTGACCCT c.1020
F G S T K P S L Q T E E P Q F L L P D P p.340
. . . . . . g.13594
CACCCCCAGGCTGACAGAACGCTGGGAAACAGGGAGCCCCCTGTGCTGGGGGACAGCTGC c.1080
H P Q A D R T L G N R E P P V L G D S C p.360
. . . . . . g.13654
AGTAGTGGCAGCAGCAATAGCACAGACAGCGGGATCTGCCTGCAGGAGCCCAGCCTGAGC c.1140
S S G S S N S T D S G I C L Q E P S L S p.380
. . . . . . g.13714
CCCAGCACAGGGCCCACCTGGGAGCAACAGGTGGGGAGCAACAGCAGGGGCCAGGATGAC c.1200
P S T G P T W E Q Q V G S N S R G Q D D p.400
. . . . . . g.13774
AGTGGCATTGACTTAGTTCAAAACTCTGAGGGCCGGGCTGGGGACACACAGGGTGGCTCG c.1260
S G I D L V Q N S E G R A G D T Q G G S p.420
. . . . . . g.13834
GCCTTGGGCCACCACAGTCCCCCGGAGCCTGAGGTGCCTGGGGAAGAAGACCCAGCTGCT c.1320
A L G H H S P P E P E V P G E E D P A A p.440
. . . . . . g.13894
GTGGCATTCCAGGGTTACCTGAGGCAGACCAGATGTGCTGAAGAGAAGGCAACCAAGACA c.1380
V A F Q G Y L R Q T R C A E E K A T K T p.460
. . . . . . g.13954
GGCTGCCTGGAGGAAGAATCGCCCTTGACAGATGGCCTTGGCCCCAAATTCGGGAGATGC c.1440
G C L E E E S P L T D G L G P K F G R C p.480
. . . . . . g.14014
CTGGTTGATGAGGCAGGCTTGCATCCACCAGCCCTGGCCAAGGGCTATTTGAAACAGGAT c.1500
L V D E A G L H P P A L A K G Y L K Q D p.500
. . . . . . g.14074
CCTCTAGAAATGACTCTGGCTTCCTCAGGGGCCCCAACGGGACAGTGGAACCAGCCCACT c.1560
P L E M T L A S S G A P T G Q W N Q P T p.520
. . . . . . g.14134
GAGGAATGGTCACTCCTGGCCTTGAGCAGCTGCAGTGACCTGGGAATATCTGACTGGAGC c.1620
E E W S L L A L S S C S D L G I S D W S p.540
. . . . . . g.14194
TTTGCCCATGACCTTGCCCCTCTAGGCTGTGTGGCAGCCCCAGGTGGTCTCCTGGGCAGC c.1680
F A H D L A P L G C V A A P G G L L G S p.560
. . . . . g.14251
TTTAACTCAGACCTGGTCACCCTGCCCCTCATCTCTAGCCTGCAGTCAAGTGAGTGA c.1737
F N S D L V T L P L I S S L Q S S E X p.578
. . . . . . g.14311
ctcgggctgagaggctgcttttgattttagccatgcctgctcctctgcctggaccaggag c.*60
. . . . . . g.14371
gagggcccctggggcagaagttaggcacgaggcagtctgggcacttttctgcaagtccac c.*120
. . . . . . g.14431
tggggctggccccagccaggccctgcagggctggtcagggtgtctggggcaggaggaggc c.*180
. . . . . . g.14491
caactcactgaactagtgcagggtatgtgggtggcactgacctgttctgttgactggggc c.*240
. . . . . . g.14551
cctgcagactctggcagagctgagaagggcagggaccttctccctcctaggaactctttc c.*300
. . . . . . g.14611
ctgtatcataaaggattatttgctcaggggaaccatggggctttctggagttgtggtgag c.*360
. . . . . . g.14671
gccaccaggctgaagtcagctcagacccagacctccctgcttaggccactcgagcatcag c.*420
. . . . . . g.14731
agcttccagcaggaggaagggctgtaggaatggaagcttcagggccttgctgctggggtc c.*480
. . . . . . g.14791
atttttaggggaaaaaggaggatatgatggtcacatggggaacctcccctcatcgggcct c.*540
. . . . . . g.14851
ctggggcaggaagcttgtcactggaagatcttaaggtatatattttctggacactcaaac c.*600
. . . . . . g.14911
acatcataatggattcactgaggggagacaaagggagccgagaccctggatggggcttcc c.*660
. . . . . . g.14971
agctcagaacccatccctctggtgggtacctctggcacccatctgcaaatatctccctct c.*720
. . . . . . g.15031
ctccaacaaatggagtagcatccccctggggcacttgctgaggccaagccactcacatcc c.*780
. . . . . . g.15091
tcactttgctgccccaccatcttgctgacaacttccagagaagccatggttttttgtatt c.*840
. . . . . . g.15151
ggtcataactcagccctttgggcggcctctgggcttgggcaccagctcatgccagcccca c.*900
. . . . . . g.15211
gagggtcagggttggaggcctgtgcttgtgtttgctgctaatgtccagctacagacccag c.*960
. . . . . . g.15271
aggataagccactgggcactgggctggggtccctgccttgttggtgttcagctgtgtgat c.*1020
. . . . . . g.15331
tttggactagccacttgtcagagggcctcaatctcccatctgtgaaataaggactccacc c.*1080
. . . . . . g.15391
tttaggggaccctccatgtttgctgggtattagccaagctggtcctgggagaatgcagat c.*1140
. . . . . . g.15451
actgtccgtggactaccaagctggcttgtttcttatgccagaggctaacagatccaatgg c.*1200
. . . . . . g.15511
gagtccatggtgtcatgccaagacagtatcagacacagccccagaagggggcattatggg c.*1260
. . . . . . g.15571
ccctgcctccccataggccatttggactctgccttcaaacaaaggcagttcagtccacag c.*1320
. . . . . . g.15631
gcatggaagctgtgaggggacaggcctgtgcgtgccatccagagtcatctcagccctgcc c.*1380
. . . . . . g.15691
tttctctggagcattctgaaaacagatattctggcccagggaatccagccatgaccccca c.*1440
. . . . . . g.15751
cccctctgccaaagtactcttaggtgccagtctggtaactgaactccctctggaggcagg c.*1500
. . . . . . g.15811
cttgagggaggattcctcagggttcccttgaaagctttatttatttattttgttcattta c.*1560
. . . . . . g.15871
tttattggagaggcagcattgcacagtgaaagaattctggatatctcaggagccccgaaa c.*1620
. . . . . . g.15931
ttctagctctgactttgctgtttccagtggtatgaccttggagaagtcacttatcctctt c.*1680
. . . . . . g.15991
ggagcctcagtttcctcatctgcagaataatgactgacttgtctaattcgtagggatgtg c.*1740
. . . . . . g.16051
aggttctgctgaggaaatgggtatgaatgtgccttgaacacaaagctctgtcaataagtg c.*1800
. . . . g.16093
atacatgttttttattccaataaattgtcaagaccacaggaa c.*1842
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center