(used for mutation description)
(last modified July 15, 2014)
This file was created to facilitate the description of sequence variants in the IL1RAPL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008292.1, covering IL1RAPL1 transcript NM_014271.3.
(upstream sequence)
. . g.5028
ttgaaaggctgcatgtactcagaagatt c.-481
. . . . . . g.5088
tgcaagcaacactccaattcttgtcatagagctcgcagacttctcacttatcggcttttt c.-421
. . . . . . g.5148
tccttccttattttttaagaattattcttattttcccctctctttttctgctctctcctc c.-361
. . . . . . g.5208
tctcagtctctccttttctatctgcctcttcatttttctcctagtctgtttttttttttc c.-301
. . . . . . g.5268
ctgctctgcacctggattgtatcttcagcaaacaatcgggcactttgagaactaactgga c.-241
. . . . . . g.5328
gacagtcttgtagggaagatctgtatggaattatctgcttttatggtgaacttggcattt c.-181
. . . . . . g.5388
gtgaatgggaatcttgttcacaatattaattgctagcaaaaacaagaaaaagaacacagg c.-121
. . . . . . g.5448
agtaaaacgtggatttttctgaatacgcattgtgatgaccagcaattaccttaccgacta c.-61
. . . . | 02 . . g.206780
atatccagaggagaataatttggaagactgttgtgg | ggaacggcctttaagagctggaag c.-1
. . . . . . g.206840
ATGAAAGCTCCGATTCCACACTTGATTCTCTTATACGCTACTTTTACTCAGAGTTTGAAG c.60
M K A P I P H L I L L Y A T F T Q S L K p.20
. . | 03 . . . . g.700412
GTTGTGACCAAAAGAGGCTCCG | CCGATGGATGCACTGACTGGTCTATCGATATCAAGAAA c.120
V V T K R G S A | D G C T D W S I D I K K p.40
. . . . . . g.700472
TATCAAGTTTTGGTGGGAGAGCCTGTTCGAATCAAATGTGCACTCTTTTATGGTTATATC c.180
Y Q V L V G E P V R I K C A L F Y G Y I p.60
. . . . . . g.700532
AGAACAAATTACTCCCTTGCCCAAAGTGCTGGACTCAGTTTGATGTGGTACAAAAGTTCT c.240
R T N Y S L A Q S A G L S L M W Y K S S p.80
. . . . . . g.700592
GGTCCTGGAGACTTTGAAGAGCCAATAGCCTTTGACGGAAGTAGAATGAGCAAAGAAGAA c.300
G P G D F E E P I A F D G S R M S K E E p.100
. . . . . . g.700652
GACTCCATTTGGTTCCGGCCAACATTGCTACAGGACAGTGGTCTCTACGCCTGTGTCATC c.360
D S I W F R P T L L Q D S G L Y A C V I p.120
| 04 . . . . . . g.813752
AG | AAACTCCACTTACTGTATGAAAGTATCCATCTCACTGACAGTGGGTGAAAATGACACT c.420
R | N S T Y C M K V S I S L T V G E N D T p.140
. . . . . . g.813812
GGACTCTGCTATAATTCCAAGATGAAGTATTTTGAAAAAGCTGAACTTAGCAAAAGCAAG c.480
G L C Y N S K M K Y F E K A E L S K S K p.160
. . . . . . g.813872
GAAATTTCATGCCGTGACATAGAGGATTTTCTACTGCCAACCAGAGAACCTGAAATCCTT c.540
E I S C R D I E D F L L P T R E P E I L p.180
| 05 . . . . . g.816642
TGGTACAAG | GAATGCAGGACAAAAACATGGAGGCCAAGTATTGTATTCAAAAGAGATACT c.600
W Y K | E C R T K T W R P S I V F K R D T p.200
. . . . . . g.816702
CTGCTTATAAGAGAAGTCAGAGAAGATGACATTGGAAATTATACCTGTGAATTAAAATAT c.660
L L I R E V R E D D I G N Y T C E L K Y p.220
. . . . | 06 . . g.1085883
GGAGGCTTTGTTGTGAGAAGAACTACTGAATTAACTGTTACAG | CCCCTCTGACTGATAAG c.720
G G F V V R R T T E L T V T A | P L T D K p.240
. . . . . | 07 g.1334902
CCACCCAAGCTTTTGTATCCTATGGAAAGTAAACTGACAATTCAGGAGACCCAGCTGG | GT c.780
P P K L L Y P M E S K L T I Q E T Q L G | p.260
. . . . . . g.1334962
GACTCTGCTAATCTAACCTGCAGAGCTTTCTTTGGGTACAGCGGAGATGTCAGTCCTTTA c.840
D S A N L T C R A F F G Y S G D V S P L p.280
. . . . . . g.1335022
ATTTACTGGATGAAAGGAGAAAAATTTATTGAAGATCTGGATGAAAATCGAGTTTGGGAA c.900
I Y W M K G E K F I E D L D E N R V W E p.300
. | 08 . . . . . g.1337434
AGTGACATTAG | AATTCTTAAGGAGCATCTTGGGGAACAGGAAGTTTCCATCTCATTAATT c.960
S D I R | I L K E H L G E Q E V S I S L I p.320
. . . . . . g.1337494
GTGGACTCTGTGGAAGAAGGTGACTTGGGAAATTACTCCTGTTATGTTGAAAATGGAAAT c.1020
V D S V E E G D L G N Y S C Y V E N G N p.340
. . . | 09. . . g.1359110
GGACGTCGACACGCCAGCGTTCTCCTTCATAAACGAG | AGCTAATGTACACAGTGGAACTT c.1080
G R R H A S V L L H K R E | L M Y T V E L p.360
. . . . . . g.1359170
GCTGGAGGCCTTGGTGCTATACTCTTGCTGCTTGTATGTTTGGTGACCATCTACAAGTGT c.1140
A G G L G A I L L L L V C L V T I Y K C p.380
. . . . . . g.1359230
TACAAGATAGAAATCATGCTCTTCTACAGGAATCATTTTGGAGCTGAAGAGCTCGATGGA c.1200
Y K I E I M L F Y R N H F G A E E L D G p.400
| 10 . . . . . . g.1372017
G | ACAATAAAGATTATGATGCATACTTATCATACACCAAAGTGGATCCTGACCAGTGGAAT c.1260
D | N K D Y D A Y L S Y T K V D P D Q W N p.420
. . . . . . g.1372077
CAAGAGACTGGGGAAGAAGAACGTTTTGCCCTTGAAATCCTACCTGATATGCTTGAAAAG c.1320
Q E T G E E E R F A L E I L P D M L E K p.440
. . . . . | 11 . g.1372546
CATTATGGATATAAGTTGTTTATACCAGATAGAGATTTAATCCCAACTGGAA | CATACATT c.1380
H Y G Y K L F I P D R D L I P T G T | Y I p.460
. . . . . . g.1372606
GAAGATGTGGCAAGATGTGTAGATCAAAGCAAGCGGCTGATTATTGTCATGACCCCAAAT c.1440
E D V A R C V D Q S K R L I I V M T P N p.480
. . . . . . g.1372666
TACGTAGTTAGAAGGGGCTGGAGCATCTTTGAGCTGGAAACCAGACTTCGAAATATGCTT c.1500
Y V V R R G W S I F E L E T R L R N M L p.500
. . . . . . g.1372726
GTGACTGGAGAAATTAAAGTGATTCTAATTGAATGCAGTGAACTGAGAGGAATTATGAAC c.1560
V T G E I K V I L I E C S E L R G I M N p.520
. . . . . . g.1372786
TACCAGGAGGTGGAGGCCCTGAAGCACACCATCAAGCTCCTGACGGTCATTAAATGGCAT c.1620
Y Q E V E A L K H T I K L L T V I K W H p.540
. . . . . . g.1372846
GGACCAAAATGCAACAAGTTGAACTCCAAGTTCTGGAAACGTTTACAGTATGAAATGCCT c.1680
G P K C N K L N S K F W K R L Q Y E M P p.560
. . . . . . g.1372906
TTTAAGAGGATAGAACCCATTACACATGAGCAGGCTTTAGATGTCAGTGAGCAAGGGCCT c.1740
F K R I E P I T H E Q A L D V S E Q G P p.580
. . . . . . g.1372966
TTTGGGGAGCTGCAGACTGTCTCGGCCATTTCCATGGCCGCGGCCACCTCCACAGCTCTA c.1800
F G E L Q T V S A I S M A A A T S T A L p.600
. . . . . . g.1373026
GCCACTGCCCATCCAGATCTCCGTTCTACCTTTCACAACACGTACCATTCACAAATGCGT c.1860
A T A H P D L R S T F H N T Y H S Q M R p.620
. . . . . . g.1373086
CAGAAACACTACTACCGAAGCTATGAGTACGACGTACCTCCTACCGGCACCCTGCCTCTT c.1920
Q K H Y Y R S Y E Y D V P P T G T L P L p.640
. . . . . . g.1373146
ACCTCCATAGGCAATCAGCATACCTACTGTAACATCCCTATGACACTCATCAACGGGCAG c.1980
T S I G N Q H T Y C N I P M T L I N G Q p.660
. . . . . . g.1373206
CGGCCACAGACAAAATCGAGCAGGGAGCAGAATCCAGATGAGGCCCACACAAACAGTGCC c.2040
R P Q T K S S R E Q N P D E A H T N S A p.680
. . . . . g.1373257
ATCCTGCCGCTGTTGCCAAGGGAGACCAGTATATCCAGTGTGATATGGTGA c.2091
I L P L L P R E T S I S S V I W X p.696
. . . . . . g.1373317
cagaaaagcaagggacatcccgtccctgggaggttgagtggaatctgcagtccagtgcct c.*60
. . g.1373337
ggaactaaatcctcgactgc c.*80
(downstream sequence)
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