(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the IRAK4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering IRAK4 transcript NM_001114182.2.
(upstream sequence)
. g.1010
cccgcccctt c.-121
. . . . . . g.1070
cgcggcgcttcctagttcggctggttcttctgtcgccggcttcagcagcccgcgcccggg c.-61
. | 02 . . . . . | 03 g.10168
cag | gggcctggagcagtatctagcacaaagtagacactcagtaaatatttg | gaatagaag c.-1
. . . . . . g.10228
ATGAACAAACCCATAACACCATCAACATATGTGCGCTGCCTCAATGTTGGACTAATTAGG c.60
M N K P I T P S T Y V R C L N V G L I R p.20
. . . . . . g.10288
AAGCTGTCAGATTTTATTGATCCTCAAGAAGGATGGAAGAAGTTAGCTGTAGCTATTAAA c.120
K L S D F I D P Q E G W K K L A V A I K p.40
. . . . | 04 . . g.13295
AAACCATCTGGTGATGATAGATACAATCAGTTTCACATAAG | GAGATTTGAAGCATTACTT c.180
K P S G D D R Y N Q F H I R | R F E A L L p.60
. . . . . . g.13355
CAAACTGGAAAAAGTCCCACTTCTGAATTACTGTTTGACTGGGGCACCACAAATTGCACA c.240
Q T G K S P T S E L L F D W G T T N C T p.80
. . . . . . g.13415
GTTGGTGATCTTGTGGATCTTTTGATCCAAAATGAATTTTTTGCTCCTGCGAGTCTTTTG c.300
V G D L V D L L I Q N E F F A P A S L L p.100
| 05. . . . . . g.14289
CTCCCAG | ATGCTGTTCCCAAAACTGCTAATACACTACCTTCTAAAGAAGCTATAACAGTT c.360
L P D | A V P K T A N T L P S K E A I T V p.120
. . . . . . g.14349
CAGCAAAAACAGATGCCTTTCTGTGACAAAGACAGGACATTGATGACACCTGTGCAGAAT c.420
Q Q K Q M P F C D K D R T L M T P V Q N p.140
. . . . . . g.14409
CTTGAACAAAGCTATATGCCACCTGACTCCTCAAGTCCAGAAAATAAAAGTTTAGAAGTT c.480
L E Q S Y M P P D S S S P E N K S L E V p.160
. | 06 . . . . . g.15018
AGTGATACAC | GTTTTCACAGTTTTTCATTTTATGAATTGAAGAATGTCACAAATAACTTT c.540
S D T R | F H S F S F Y E L K N V T N N F p.180
. . . . . . g.15078
GATGAACGACCCATTTCTGTTGGTGGTAATAAAATGGGAGAGGGAGGATTTGGAGTTGTA c.600
D E R P I S V G G N K M G E G G F G V V p.200
. . . . . | 07 . g.16030
TATAAAGGCTACGTAAATAACACAACTGTGGCAGTGAAGAAGCTTGCAGCA | ATGGTTGAC c.660
Y K G Y V N N T T V A V K K L A A | M V D p.220
. . . . . | 08 . g.19690
ATTACTACTGAAGAACTGAAACAGCAGTTTGATCAAGAAATAAAAGTAATGGCAAA | GTGT c.720
I T T E E L K Q Q F D Q E I K V M A K | C p.240
. . . . . . g.19750
CAACATGAAAACTTAGTAGAACTACTTGGTTTCTCAAGTGATGGAGATGACCTCTGCTTA c.780
Q H E N L V E L L G F S S D G D D L C L p.260
. . . . . | 09 . g.20258
GTATATGTTTACATGCCTAATGGTTCATTGCTAGACAGACTCTCTTGCTTG | GATGGTACT c.840
V Y V Y M P N G S L L D R L S C L | D G T p.280
. . . . . . g.20318
CCACCACTTTCTTGGCACATGAGATGCAAGATTGCTCAGGGTGCAGCTAATGGCATCAAT c.900
P P L S W H M R C K I A Q G A A N G I N p.300
. . . . | 10 . . g.24382
TTTCTACATGAAAATCATCATATTCATAGAGATATTAAAAG | TGCAAATATCTTACTGGAT c.960
F L H E N H H I H R D I K S | A N I L L D p.320
. . . . . . g.24442
GAAGCTTTTACTGCTAAAATATCTGACTTTGGCCTTGCACGGGCTTCTGAGAAGTTTGCC c.1020
E A F T A K I S D F G L A R A S E K F A p.340
. . . . . . g.24502
CAGACAGTCATGACTAGCAGAATTGTGGGAACAACAGCTTATATGGCACCAGAAGCTTTG c.1080
Q T V M T S R I V G T T A Y M A P E A L p.360
. . . . | 11 . . g.25733
CGTGGAGAAATAACACCCAAATCTGATATTTACAGCTTTGGTGTG | GTTTTACTAGAAATA c.1140
R G E I T P K S D I Y S F G V | V L L E I p.380
. . . . | 12 . g.28467
ATAACTGGACTTCCAGCTGTGGATGAACACCGTGAACCTCAGTTATTG | CTAGATATTAAA c.1200
I T G L P A V D E H R E P Q L L | L D I K p.400
. . . . . . g.28527
GAAGAAATTGAAGATGAAGAAAAGACAATTGAAGATTATATTGATAAAAAGATGAATGAT c.1260
E E I E D E E K T I E D Y I D K K M N D p.420
. . . . . . g.28587
GCTGATTCCACTTCAGTTGAAGCTATGTACTCTGTTGCTAGTCAATGTCTGCATGAAAAG c.1320
A D S T S V E A M Y S V A S Q C L H E K p.440
. . | 13. . . . g.28769
AAAAATAAGAGACCAGACATTAAGAAG | GTTCAACAGCTGCTGCAAGAGATGACAGCTTCT c.1380
K N K R P D I K K | V Q Q L L Q E M T A S p.460
g.28772
TAA c.1383
X p.460
. . . . . . g.28832
aactttattggaaaagactcttgactttttatatacacctatctcaaccatttttttaac c.*60
. . . . . . g.28892
tgatttttttcctaaatattcttctttacctttaacaaggcataggctgttgcaggacag c.*120
. . . . . . g.28952
tggttattaaagcatgggttgaacttccaaaatataaaaatagagccaccatatcaacac c.*180
. . . . . . g.29012
ttagccctacccattagtatcacccccagttcttacagtaatccctgagaaatctccttc c.*240
. . . . . . g.29072
aagcatcaccaaacacagtttgaaaattacagggttagcaaaaagagcctgggctgtatg c.*300
. . . . . . g.29132
tagggtggaaacactctgatctgaagcccagctgactccactactaatttgctgtaaagc c.*360
. . . . . . g.29192
tttggacatacacttagctgctgtgagccactaataacattgggctaatatctgctgtgc c.*420
. . . . . . g.29252
ttctctgacaggtagtcatgaaaatcaaatgatgcaaaatatatacaagcactttgtaaa c.*480
. . . . . . g.29312
ttgtaaaatgatacaaaatttaaagtttatagagccagttacaaaatcctattagtcata c.*540
. . . . . . g.29372
tatttatagattgtgttcacagcaatcatttaaccacaaataaaatatcccttgatgata c.*600
. . . . . . g.29432
ctgccataatgatatgtccattattagattatgttacatgacaaagttgaaggaatttgg c.*660
. . . . . . g.29492
cagatgcagttaaggttcctaaacaactcactttgagactgttgaaagggcctgacctaa c.*720
. . . . . . g.29552
tcaagtgaacccttgcaagaagaattctccttgtaagccttgaagaagtatgtgagaggg c.*780
. . . . . . g.29612
ccacattggctaaaacctaaaggtggcctctaggagatgagacctaccttccagttgtca c.*840
. . . . . . g.29672
gcaagcaggaaaaaaaaattgggacctcagttgcaaccacaaggaactgaattctgccaa c.*900
. . . . . . g.29732
aaatctgagtcagcttagaagagtactccaagcttcagatgataaccacagcctgggctg c.*960
. . . . . . g.29792
acacctggatttcagctttgcatgatcctcagtatgagaatctatctgttctgtgctgga c.*1020
. . . . . . g.29852
cttctaatatatagaactgtgagataatgggtcacattggctggatgtggtggctcatac c.*1080
. . . . . . g.29912
ctgtaaatcccagcactttgggaggccgaggcaggcagatcacctgaggtcaagagttca c.*1140
. . . . . . g.29972
agaccggcctggccaacatggtgaaaccccgtctctactaaaaatacaaaaattagacga c.*1200
. . . . . . g.30032
gcgtggtggtggacacctgtagtcccagctacttgggaggctgaggcaggagactagctg c.*1260
. . . . . . g.30092
gaaccagggaggtagaggttgcagtgagctgagatcgtgccactgcactccagcctgggt c.*1320
. . . . . . g.30152
gacagagtgagactccatcataaataaataaataaataaatgggtcacattaagccttta c.*1380
. . . . . . g.30212
agtttgtggtaatttattattcagtaatagaaaacaaatacagatactctcccatgatgt c.*1440
. . . . . . g.30272
ttttcccatgatgatttcccatgatatttacaggttttgcccacatttgaggggtatgtg c.*1500
. . . . . . g.30332
gaaattatacagagcatgtacagcgggaggcttatagtgtacgtactgaaatgtggggtt c.*1560
. . . . . . g.30392
ggagccccaacacagagaccccagcaggacactgcctagtagagctatgggaagggtgct c.*1620
. . . . . . g.30452
gccaccctccagacttgagaattgtagagccaccagcagcttgcactctgagcttggaaa c.*1680
. . . . . . g.30512
agccacaggcactcaacttcaaccatgagggaagccacgcaccctgcaaagccacaggag c.*1740
. . . . . . g.30572
tggagctgcccacggcctcgagggcccaccccttgcaccagtgtgccaggatgtgggaca c.*1800
. . . . . . g.30632
tggaatcaaggaatatgttagggcttttttttttttttttttgagacggagtcttgctct c.*1860
. . . . . . g.30692
gttgcccaggctggagtgcagtggcacgatctcggctcactgcaagctctgcctcccagg c.*1920
. . . . . . g.30752
ttcacgccattcccctgcctcagcctccccagtagctgggactacaggtgcccgccacca c.*1980
. . . . . . g.30812
tgcccagctaattttttttgtatttttagtagagatggggtttcactgtgttagccagga c.*2040
. . . . . . g.30872
tggtcttgatctcctgacctcgtgatcacccgcctcggcctcccaaagtgccagtattta c.*2100
. . . . . . g.30932
aagtttaatgtcttcccagctgggtttcagacttgccaggatcctgttgcccctttcttt c.*2160
. . . . . . g.30992
agccaatttctcccttttgggacaagaatgttttacttattgcctgtaccaccaactgta c.*2220
. . . . . . g.31052
tcttggaaataaataacttatattttatttcagaggctcataggcggcaggaacttacct c.*2280
. . . . . . g.31112
tgagtctcaaatgagacttaggacttttgagtgatgctagaatgagttaagactttggga c.*2340
. . . . . . g.31172
agggatgattatattttgcaatgtgagaaagacattagatttggggggctgggggtagaa c.*2400
. . . . . . g.31232
tgacattgtttagatgtttgtctccttcaaatttcatgtttaaatgtaatccccagtgtt c.*2460
. . . . . . g.31292
gggggtggaggtggggcctgatgggaagtgtttgggtcatggtggatgatccctcatgaa c.*2520
. . . . . . g.31352
tggcttagagccactggtgatgagtgagttctcactcagttcgtgtgagatctggtggct c.*2580
. . . . . . g.31412
taaaagagtctgctccccctttgccttccattgtgattgtaaccttcctggggccttcat c.*2640
. . . . . . g.31472
caaaggccaggcaaatattggtgccgtgctagtatggcctgcagaaccgtaagccaaaac c.*2700
. . . . . . g.31532
aaaccttttttctttataaattacccagcctcagttattcctttatagtgatgcaaaacg c.*2760
. . . . . . g.31592
ggctaactatataaatttgtaatttttaagttatagattgtttttattaaacacttatga c.*2820
g.31600
atactgtt c.*2828
(downstream sequence)
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