(used for mutation description)
(last modified April 10, 2012)
This file was created to facilitate the description of sequence variants in the PDLIM3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_032576.1, covering PDLIM3 transcript variant-1 (NM_014476.4). Transcript variant-2 lacks exons 5 and 6 but contains exon 4 instead (NM_014476.4), encoding PDLIM3-isoform b.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
g.5004
cggt c.-121
. . . . . . g.5064
gacgtcacccccagcggggataaagcgcccccgcccgggtcggggccaggacgccgcccg c.-61
. . . . . . g.5124
gcgcggagtggctgccctgcgcggggacacttagagcccggtgggcgggaggaaggcggc c.-1
. . . . . . g.5184
ATGCCCCAGACGGTGATCCTCCCGGGCCCTGCGCCCTGGGGCTTCAGGCTCTCAGGGGGC c.60
M P Q T V I L P G P A P W G F R L S G G p.20
. . . | 02 . . . g.15414
ATAGACTTCAACCAGCCTTTGGTCATCACCAGG | ATTACACCAGGAAGCAAGGCGGCAGCT c.120
I D F N Q P L V I T R | I T P G S K A A A p.40
. . . . . . g.15474
GCCAACCTGTGTCCTGGAGATGTCATCCTGGCTATTGACGGCTTTGGGACAGAGTCCATG c.180
A N L C P G D V I L A I D G F G T E S M p.60
. . . . . . g.15534
ACTCATGCTGATGCGCAGGACAGGATTAAAGCAGCAGCTCACCAGCTGTGTCTCAAAATT c.240
T H A D A Q D R I K A A A H Q L C L K I p.80
| 03 . . . . . . g.17167
GACAG | GGGAGAAACTCACTTATGGTCTCCACAAGTATCTGAAGATGGGAAAGCCCATCCT c.300
D R | G E T H L W S P Q V S E D G K A H P p.100
. . . | 05 . . . g.26251
TTCAAAATCAACTTAGAATCAGAACCACAG | GACGGGAACTACTTTGAACACAAGCATAAT c.360
F K I N L E S E P Q | D G N Y F E H K H N p.120
^ alternatively spliced, replaced by exon 4
. . . | 06 . . g.32018
ATTCGGCCCAAACCTTTCGTGATCCCGGGCCGAAGCAG | TGGATGCAGCACTCCCTCCGGG c.420
I R P K P F V I P G R S S | G C S T P S G p.140
. . . . . . g.32078
ATTGACTGTGGCAGTGGACGCAGCACCCCTTCTTCTGTCAGTACTGTTAGTACCATTTGC c.480
I D C G S G R S T P S S V S T V S T I C p.160
. . . . . . g.32138
CCAGGTGACTTGAAAGTTGCGGCTAAGCTGGCCCCTAACATTCCTTTGGAAATGGAACTT c.540
P G D L K V A A K L A P N I P L E M E L p.180
. . . . . . g.32198
CCTGGTGTGAAGATTGTACATGCTCAGTTTAATACACCTATGCAGTTGTACTCAGATGAC c.600
P G V K I V H A Q F N T P M Q L Y S D D p.200
. . . . . . g.32258
AATATTATGGAAACACTCCAGGGTCAGGTTTCAACAGCCCTAGGGGAAACACCTTTGATG c.660
N I M E T L Q G Q V S T A L G E T P L M p.220
| 07 . . . . . . g.33964
AG | CGAGCCCACAGCCTCGGTGCCCCCCGAGTCGGACGTGTACCGGATGCTCCACGACAAT c.720
S | E P T A S V P P E S D V Y R M L H D N p.240
. . . . . . g.34024
CGGAATGAGCCCACACAGCCTCGCCAGTCGGGCTCCTTCAGAGTGCTCCAGGGAATGGTG c.780
R N E P T Q P R Q S G S F R V L Q G M V p.260
. | 08 . . . . . g.36019
GACGATGGCTCTG | ATGACCGTCCGGCTGGAACGCGGAGTGTGAGAGCTCCGGTGACGAAA c.840
D D G S D | D R P A G T R S V R A P V T K p.280
. . . . . . g.36079
GTCCATGGCGGTTCAGGCGGGGCACAGAGGATGCCGCTCTGTGACAAATGTGGGAGTGGC c.900
V H G G S G G A Q R M P L C D K C G S G p.300
| 09 . . . . . . g.38130
ATAGT | CGGTGCTGTGGTGAAGGCGCGGGATAAGTACCGGCACCCTGAGTGCTTCGTGTGT c.960
I V | G A V V K A R D K Y R H P E C F V C p.320
. . . . . . g.38190
GCCGACTGCAACCTCAACCTCAAGCAAAAGGGCTACTTCTTCATAGAAGGGGAGCTGTAC c.1020
A D C N L N L K Q K G Y F F I E G E L Y p.340
. . . . . . g.38250
TGCGAAACCCACGCAAGAGCCCGCACAAAGCCCCCAGAGGGCTATGACACGGTCACTCTG c.1080
C E T H A R A R T K P P E G Y D T V T L p.360
. g.38265
TATCCCAAAGCTTAA c.1095
Y P K A X p.364
. . . . . . g.38325
gtctctgcaggcgtggcacgcacgcacgcacccacccacgcgcacttacacgagaagaca c.*60
. . . . . . g.38385
ttcatggctttgggcagaaggattgtgcagattgtcaactccaaatctaaagtcaaggct c.*120
. . . . . . g.38445
ttagacctttatcctattgtttattgaggaaaaggaatgggaggcaaatgcctgctatgt c.*180
. . . . . . g.38505
gaaaaaaacatacacttagctatgttttgcaactctttttggggctagcaataatgatat c.*240
. . . . . . g.38565
ttaaagcaataattttttgtatgtcatactccacaatttacatgtatattacagccatca c.*300
. . . . . . g.38625
aacacataaacatcaagatatttgaaggactctaattgtctttccttgacaagttgattt c.*360
. . . . . . g.38685
tgcaattgtggtaaatagcaaataacaatcttgtattctaacataatctgcagttgtctg c.*420
. . . . . . g.38745
tatgtgttttaactattacagtgcatgttagggagaaattccctgaatttctttagtttt c.*480
. . . . . . g.38805
gtattcaaacaattatgccactcgatgcaacaaacataataaatacataaaagatttaaa c.*540
. . . . . . g.38865
aaatacctaatgaagtggcattcattgaattcaaataaaatcaacatttcaatgagagaa c.*600
. . . . . . g.38925
cccaatcatattttaacatgtacactaacaaatattttaagataaatgtggcttcttcag c.*660
. . . . . . g.38985
gttttataactcattactctttcttatgagcacaaaatttctgatgatagaagcgttgaa c.*720
. . . . . . g.39045
atttgctagttaaaggtagttcagtctctttcaaattaaaagtttcacttgcttcaacag c.*780
. . . . . . g.39105
agactctttcaatttaaatatctctttcagatcaatattcagtcaaattgaaggttcaaa c.*840
. . . . . . g.39165
gtccatcactgctgtttcttaggctcaatggttcaccacctcctcctcttcccaagatgg c.*900
. . . . . . g.39225
catctccaggaagaaacaatttagacgacttcctaaggaaggcaggggctgctggtctcc c.*960
. . . . . . g.39285
tggggtcctgcttgtatccactgttgaaatccttggtttcacttgtgatctgtggtctgt c.*1020
. . . . . . g.39345
tttcttgacatagttgaggccaggcaataataacacctccactaccacctccaaaactct c.*1080
. . . . . . g.39405
cagctcagctttcctggagtcatggatcctctgtctgagacatgcactctgcctggccct c.*1140
. . . . . . g.39465
ggcgcaggcagcctaccttgcaggctctgcatggcgttaccttgcctctcacccagggtg c.*1200
. . . . . . g.39525
cccatggcaatgctcctgacttgcatctctcacctactttccatgtcccccactggggac c.*1260
. . . . . . g.39585
gtacaggaacttctgaaactgtcccctcaggttcaaaccatggggaaccagcagggtggg c.*1320
. . . . . . g.39645
gaccctcagaccctctgtctcaccaccttgtgtcacatggtcatctctaccacccctcaa c.*1380
. . . . . . g.39705
cccccacagctgctaacttctggcctgaaacaagtgttctcctcccataaggtcccaaat c.*1440
. . . . . . g.39765
gggacacaagttttattgctctgggattcttccaaacttaactgactctgaccctgacct c.*1500
. . . . . . g.39825
gttcaggattttgagaggagccaaaacacgtgcctggcccctgtaggcatttgacattgc c.*1560
. . . . . . g.39885
aactcctgtgccaacacatgcattcactaacaaagctattaaaaaaataaaacagacttt c.*1620
. g.39899
tgagatcaaagaaa c.*1634
(downstream sequence)
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