(used for mutation description)
(last modified August 28, 2009)
This file was created to facilitate the description of sequence variants in the TRIM32
gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken
from NG_011619.1,
covering TRIM32 transcript NM_012210.3.
Exon 2 is alternatively spliced producing transcript variant 2 (NM_001099679.1).
NOTE: a previous reference sequence included
an extra exon between exons 1 and 2 (see alternatively spliced exon). Since
this exon is only present in rare transcripts and seems not evolutionary conserved we have
removed it from the reference sequence.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.5041
ggtgctcaacggcgcgtgcgcagagggaggcaggcgggtgg c.-121
. . . . | 02 . g.15381
gctgccggcggtggactcgtcggagccgcgggcggtcag | cag gaatttgaccctctaggg c.-61
^ alternative splice site
. . . . . . g.15441
catgaatactgtgctgttcagttctgagctgtgctagcaatacccttcaaaggaagagca c.-1
. . . . . . g.15501
ATGGCTGCAGCAGCAGCTTCTCACCTGAACCTGGATGCCCTCCGGGAAGTGCTAGAATGC c.60
M A A A A A S H L N L D A L R E V L E C p.20
. . . . . . g.15561
CCCATCTGCATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCTGCACTGTGGC c.120
P I C M E S F T E E Q L R P K L L H C G p.40
. . . . . . g.15621
CATACCATCTGCCGCCAGTGCCTGGAGAAGCTATTGGCCAGTAGCATCAATGGTGTCCGC c.180
H T I C R Q C L E K L L A S S I N G V R p.60
. . . . . . g.15681
TGTCCCTTTTGCAGCAAGATTACCCGCATAACCAGCTTGACCCAGCTGACAGACAATCTG c.240
C P F C S K I T R I T S L T Q L T D N L p.80
. . . . . . g.15741
ACAGTGCTAAAGATCATTGATACAGCTGGGCTCAGCGAGGCTGTGGGGCTGCTCATGTGT c.300
T V L K I I D T A G L S E A V G L L M C p.100
. . . . . . g.15801
CGGTCCTGTGGGCGGCGTCTGCCCCGGCAATTCTGCCGGAGCTGTGGTTTGGTGTTATGT c.360
R S C G R R L P R Q F C R S C G L V L C p.120
. . . . . . g.15861
GAGCCCTGCCGGGAGGCAGACCATCAGCCTCCTGGCCACTGTACACTCCCTGTCAAAGAA c.420
E P C R E A D H Q P P G H C T L P V K E p.140
. . . . . . g.15921
GCAGCTGAGGAGCGGCGTCGGGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATG c.480
A A E E R R R D F G E K L T R L R E L M p.160
. . . . . . g.15981
GGGGAGCTGCAGCGGCGGAAGGCAGCCTTGGAAGGTGTCTCCAAGGACCTTCAGGCAAGG c.540
G E L Q R R K A A L E G V S K D L Q A R p.180
. . . . . . g.16041
TATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCAGGGTCCAGGATGAGCTGGCT c.600
Y K A V L Q E Y G H E E R R V Q D E L A p.200
. . . . . . g.16101
CGCTCTCGGAAGTTCTTCACAGGCTCTTTGGCTGAAGTTGAGAAGTCCAATAGTCAAGTG c.660
R S R K F F T G S L A E V E K S N S Q V p.220
. . . . . . g.16161
GTAGAGGAGCAGAGTTACCTGCTTAACATTGCAGAGGTGCAGGCTGTGTCTCGCTGTGAC c.720
V E E Q S Y L L N I A E V Q A V S R C D p.240
. . . . . . g.16221
TACTTCCTGGCCAAGATCAAGCAGGCAGATGTAGCACTACTGGAGGAGACAGCTGATGAG c.780
Y F L A K I K Q A D V A L L E E T A D E p.260
. . . . . . g.16281
GAGGAGCCAGAGCTCACTGCCAGCTTGCCTCGGGAGCTCACCCTGCAAGATGTGGAGCTC c.840
E E P E L T A S L P R E L T L Q D V E L p.280
. . . . . . g.16341
CTTAAGGTAGGTCATGTTGGCCCCCTCCAAATTGGACAAGCTGTTAAGAAGCCCCGGACA c.900
L K V G H V G P L Q I G Q A V K K P R T p.300
. . . . . . g.16401
GTTAACGTGGAAGATTCCTGGGCCATGGAGGCCACAGCGTCTGCTGCCTCTACCTCTGTT c.960
V N V E D S W A M E A T A S A A S T S V p.320
. . . . . . g.16461
ACTTTTAGAGAGATGGACATGAGCCCGGAGGAAGTGGTTGCCAGCCCTAGGGCCTCACCT c.1020
T F R E M D M S P E E V V A S P R A S P p.340
. . . . . . g.16521
GCTAAACAGCGGGGTCCTGAGGCAGCCTCCAATATCCAGCAGTGCCTCTTTCTCAAGAAG c.1080
A K Q R G P E A A S N I Q Q C L F L K K p.360
. . . . . . g.16581
ATGGGGGCCAAAGGCAGCACTCCAGGAATGTTCAATCTTCCAGTCAGTCTCTACGTGACC c.1140
M G A K G S T P G M F N L P V S L Y V T p.380
. . . . . . g.16641
AGTCAAGGTGAAGTACTAGTCGCTGACCGTGGTAACTATCGTATACAAGTCTTTACCCGC c.1200
S Q G E V L V A D R G N Y R I Q V F T R p.400
. . . . . . g.16701
AAAGGCTTTTTGAAGGAAATCCGCCGCAGCCCCAGTGGCATTGATAGCTTTGTGCTAAGC c.1260
K G F L K E I R R S P S G I D S F V L S p.420
. . . . . . g.16761
TTCCTTGGGGCAGATCTACCCAACCTCACTCCTCTCTCAGTGGCAATGAACTGCCAGGGG c.1320
F L G A D L P N L T P L S V A M N C Q G p.440
. . . . . . g.16821
CTGATTGGTGTGACTGACAGCTATGATAACTCCCTCAAGGTATATACCTTGGATGGCCAC c.1380
L I G V T D S Y D N S L K V Y T L D G H p.460
. . . . . . g.16881
TGCGTGGCCTGTCACAGGAGCCAGCTGAGCAAACCATGGGGTATCACAGCCTTGCCATCT c.1440
C V A C H R S Q L S K P W G I T A L P S p.480
. . . . . . g.16941
GGCCAGTTTGTAGTAACCGATGTGGAAGGTGGAAAGCTTTGGTGTTTCACAGTTGATCGA c.1500
G Q F V V T D V E G G K L W C F T V D R p.500
. . . . . . g.17001
GGATCAGGGGTGGTCAAATACAGCTGCCTATGTAGTGCTGTGCGGCCCAAATTTGTCACC c.1560
G S G V V K Y S C L C S A V R P K F V T p.520
. . . . . . g.17061
TGTGATGCTGAGGGCACCGTCTACTTCACCCAGGGCTTAGGCCTCAATCTGGAGAATCGG c.1620
C D A E G T V Y F T Q G L G L N L E N R p.540
. . . . . . g.17121
CAGAATGAGCACCACCTGGAGGGTGGCTTTTCCATTGGCTCTGTAGGCCCTGATGGGCAG c.1680
Q N E H H L E G G F S I G S V G P D G Q p.560
. . . . . . g.17181
CTGGGTCGCCAGATTAGCCACTTCTTCTCGGAGAATGAGGATTTCCGCTGCATTGCTGGC c.1740
L G R Q I S H F F S E N E D F R C I A G p.580
. . . . . . g.17241
ATGTGTGTGGATGCTCGTGGTGATCTCATCGTGGCTGACAGTAGTCGCAAGGAAATTCTC c.1800
M C V D A R G D L I V A D S S R K E I L p.600
. . . . . . g.17301
CATTTTCCTAAGGGTGGGGGCTATAGTGTCCTTATTCGAGAGGGACTTACCTGTCCGGTG c.1860
H F P K G G G Y S V L I R E G L T C P V p.620
. . . . . . g.17361
GGCATAGCCCTAACTCCTAAGGGGCAGCTGCTGGTCTTGGACTGTTGGGATCATTGCATC c.1920
G I A L T P K G Q L L V L D C W D H C I p.640
. . . . g.17403
AAGATCTACAGCTACCATCTGAGAAGATATTCCACCCCATAG c.1962
K I Y S Y H L R R Y S T P X p.653
. . . . . . g.17463
gggatgagaaattatcagtttcttctgctcccaagccaacttcccttcccttagttcttg c.*60
. . . . . . g.17523
gttgttagtggcacatgcagaatagactcagcctatgtcctgattccagctgggtagttc c.*120
. . . . . . g.17583
tagaacttcagaagctccatcttttaatgtttttatttgttatgtccccctccccgcttc c.*180
. . . . . . g.17643
ccacctaaatttagagctttaaaagatgcactgcccaaataggacacacgatggtgttag c.*240
. . . . . . g.17703
ctgaagtttgattagcaattaggcacttccaaggctttagtagagagagccactttagcc c.*300
. . . . . . g.17763
ctttgtgccatgtttgaaatttgcccttgtattaaatccttgattttttcccatttggct c.*360
. . . . . . g.17823
ttgatgcccttgatccattgtttccttcctactataatgtgcttcatctgtgacactttc c.*420
. . . . . . g.17883
tcttgaactctgattggattcactgtgcatgcttcagtgggatctgctccacctttcagt c.*480
. . . . . . g.17943
gacatttaagacatcatattcccgtaacattatgtctcagtctgatcgtctttaccagta c.*540
. . . . . . g.18003
tgaaagtcattcatttagtgctaccaaaggggatacacaagccctttaggaagcagtacc c.*600
. . . . . . g.18063
tctcgcctggaggatctgtgccatcttggattgagaattgcagatgtgacagaatggatt c.*660
. . . . . . g.18123
gaccctagttggttggtattgatgacttcagcctggaaattgcttgccttttaaagaagc c.*720
. . . . . . g.18183
atatatgggttggaattatgccaaagcataggaagctgggaataagcaaacaaatgctga c.*780
. . . . . . g.18243
tatagtcagcaaatttggatagtctctagggctcatcatttttcatactacctctctctt c.*840
. . . . . . g.18303
ctggcctgtgtctaaggaattgtacaacataggccagggccaacaaagtggagaggtgga c.*900
. . . . . . g.18363
cacattttcatgttcattactaaaacaaacagcaaaactattggtttgttattctgtgtt c.*960
. . . . . . g.18423
ttcctcaagtcagtacatactatttggtttcaggatttctttccatttctctatcaagca c.*1020
. . . . . . g.18483
ttaaataattgagaactgtttcttcatctctggtgttcatgtcttttaattaaatacgga c.*1080
. . . . . . g.18543
attttggagatgataagagggataacctgcgctatgccattttgcttccttatctcactg c.*1140
. . . . . . g.18603
tgttctttcagagtgtagatatctacccaggtcaaaattcagccaaaagcactattatgt c.*1200
. . . . . . g.18663
aaagataataatccaaatctttctcccaaatacatgtgtacagaatcatcccccaaggtt c.*1260
. . . . . . g.18723
tagagtcaccaataccctattctgagcttctgctgtatgttttatgtttataattacagt c.*1320
. . . . . . g.18783
tcacaaaaaggaagttagtcttgtttttaagatcagaagtgggtgagaggacctgtgatg c.*1380
. . . . . . g.18843
aggttcctgagggtttggtgtttactaagtaatatatcttactctaggtgcagggctgat c.*1440
. . . . . . g.18903
ggcaagccaaagagcaactgccttactttgatgtaaacaaaatttgctaaactgagctgc c.*1500
. . . . . . g.18963
tcaaaattgtttttatggtagtagtgtttctttggattgtatcataatagctgccaaagg c.*1560
. . . g.18999
ataggtaaagaggtcattaaaatgatgttgaactag c.*1596
(downstream sequence)
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