(used for mutation description)
(last modified January 7, 2011)
This file was created to facilitate the description of sequence variants in the PABPN1 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008239.1, covering PABPN1 transcript NM_004643.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . g.5022
aatgaagggtggcacccaaatc c.-1261
. . . . . . g.5082
cccaatcaatgcctgttcaatcaacaaacatctaacaggacattatgtggtaggcatatt c.-1201
. . . . . . g.5142
gccaggccgtggagatgcgaatataaataggaaccggcccctcatctgcaggcgctcaca c.-1141
. . . . . . g.5202
acctagttaggaaacagtaaaacaattaagcgcgccgtggagataggcccacttgtcctg c.-1081
. . . . . . g.5262
ggaaatgaggggaagctggggtttgcagtggtttgattgaagggggactacatgttagag c.-1021
. . . . . . g.5322
gcacagactgggtgcaggtacacccaaaggaacgagaagagtggaaggaaacaacatcca c.-961
. . . . . . g.5382
caaagtaaccacatgctggcgtatcgaaggccgtgatttacggttttgagactttacctc c.-901
. . . . . . g.5442
gccagcaaaggggggccagtctgttagcggtgcagattggaggggtgacattggaagctg c.-841
. . . . . . g.5502
tccaggaaaaagaaaatggaactggggagcagaaggcctacgcaagagggcgggacagac c.-781
. . . . . . g.5562
aggacttgtgactagtagctctggactgaggaatcctccctgctttctggtgcgggagag c.-721
. . . . . . g.5622
ctagtggatgatggtgccaataacctggatggggaaagtaagctccctcctggaatgctt c.-661
. . . . . . g.5682
cattcacaacctccattttcagcaacatcccatctactggtgcttcctggtcgagataca c.-601
. . . . . . g.5742
agtttcctgaaactgctgctctgttttgggcctcacccggccaacagctcactagctggc c.-541
. . . . . . g.5802
aagcagtagtatcaagatggcggccccctaggactggctagtcatgtgacctcgggtttc c.-481
. . . . . . g.5862
ccaagtttgaagcccggcagtcctttcgggggcaaggttcacctgtcacgaaacgagtgt c.-421
. . . . . . g.5922
caccccttcgactctcgcaagccaatcggcatctgagactgggccactgcggtgaggcga c.-361
. . . . . . g.5982
tcggaagattggtcctttccagtcgcctagctagggccaatcacggagcgtcccatactt c.-301
. . . . . . g.6042
cgcgggcccgcccgtaggccggggagaagcaggaatatcgtcacagcgtggcggtattat c.-241
. . . . . . g.6102
tacctaaggactcgataggaggtgggacgcgtgttgattgacaggcagatttcccctacc c.-181
. . . . . . g.6162
gggatttgagaatttggcgcagtgccccgccttagaggtggggccttatttgattgccaa c.-121
. . . . . . g.6222
gtaatattccccaatggagtactagctcatggtgacgggcaggcagcttgactaatgagt c.-61
. . . . . . g.6282
cctcggcgtggccggcgcagctctccaatcgccgggcggcgggccccagtctgagcggcg c.-1
. . . . . . g.6342
ATGGCGGCGGCGGCGGCGGCGGCAGCAGCAGCGGGGGCTGCGGGCGGTCGGGGCTCCGGG c.60
M A A A A A A A A A A G A A G G R G S G p.20
. . . . . . g.6402
CCGGGGCGGCGGCGCCATCTTGTGCCCGGGGCCGGTGGGGAGGCCGGGGAGGGGGCCCCG c.120
P G R R R H L V P G A G G E A G E G A P p.40
. . . . . . g.6462
GGGGGCGCAGGGGACTACGGGAACGGCCTGGAGTCTGAGGAACTGGAGCCTGAGGAGCTG c.180
G G A G D Y G N G L E S E E L E P E E L p.60
. . . . . . g.6522
CTGCTGGAGCCCGAGCCGGAGCCCGAGCCCGAAGAGGAGCCGCCCCGGCCCCGCGCCCCC c.240
L L E P E P E P E P E E E P P R P R A P p.80
. . . . . . g.6582
CCGGGAGCTCCGGGCCCTGGGCCTGGTTCGGGAGCCCCCGGCAGCCAAGAGGAGGAGGAG c.300
P G A P G P G P G S G A P G S Q E E E E p.100
. . . . . | 02 . g.7002
GAGCCGGGACTGGTCGAGGGTGACCCGGGGGACGGCGCCATTGAGGACCCG | GAGCTGGAA c.360
E P G L V E G D P G D G A I E D P | E L E p.120
. . . . . . g.7062
GCTATCAAAGCTCGAGTCAGGGAGATGGAGGAAGAAGCTGAGAAGCTAAAGGAGCTACAG c.420
A I K A R V R E M E E E A E K L K E L Q p.140
. . . . | 03 . . g.7825
AACGAGGTAGAGAAGCAGATGAATATGAGTCCACCTCCAGGCAATG | CTGGCCCGGTGATC c.480
N E V E K Q M N M S P P P G N A | G P V I p.160
. . . . . | 04 . g.8195
ATGTCCATTGAGGAGAAGATGGAGGCTGATGCCCGTTCCATCTATGTTGGCAAT | GTGGAC c.540
M S I E E K M E A D A R S I Y V G N | V D p.180
. . . . . . g.8255
TATGGTGCAACAGCAGAAGAGCTGGAAGCTCACTTTCATGGCTGTGGTTCAGTCAACCGT c.600
Y G A T A E E L E A H F H G C G S V N R p.200
. . . . | 05 . . g.8796
GTTACCATACTGTGTGACAAATTTAGTGGCCATCCCAAAGG | GTTTGCGTATATAGAGTTC c.660
V T I L C D K F S G H P K G | F A Y I E F p.220
. . . . . . g.8856
TCAGACAAAGAGTCAGTGAGGACTTCCTTGGCCTTAGATGAGTCCCTATTTAGAGGAAGG c.720
S D K E S V R T S L A L D E S L F R G R p.240
| 06 . . . . . g.9001
CAAATCAAG | GTGATCCCAAAACGAACCAACAGACCAGGCATCAGCACAACAGACCGGGGT c.780
Q I K | V I P K R T N R P G I S T T D R G p.260
. . . . . . g.9061
TTTCCACGAGCCCGCTACCGCGCCCGGACCACCAACTACAACAGCTCCCGCTCTCGATTC c.840
F P R A R Y R A R T T N Y N S S R S R F p.280
. . . . | 07 . . g.10078
TACAGTGGTTTTAACAGCAGGCCCCGGGGTCGCGTCTACAG | GGGCCGGGCTAGAGCGACA c.900
Y S G F N S R P R G R V Y R | G R A R A T p.300
. . g.10099
TCATGGTATTCCCCTTACTAA c.921
S W Y S P Y X p.306
. . . . . . g.10159
aaaaagtgtgtattaggaggagagagaggaaaaaaagaggaaagaaggaaaaaaaaaaga c.*60
. . . . . . g.10219
attaaaaaaaaaaaaaagaaaaacagaagatgaccttgatggaaaaaaaatattttttaa c.*120
. . . . . . g.10279
aaaaaagatatactgtggaaggggggagaatcccataactaactgctgaggagggacctg c.*180
. . . . . . g.10339
ctttggggagtaggggaaggcccagggagtggggcagggggctgcttattcactctgggg c.*240
. . . . . . g.10399
attcgccatggacacgtctcaactgcgcaagctgctgcccatgtttccctgccccacttc c.*300
. . . . . . g.10459
acccccttgggggctgctcaagggtaggtgggcgtgggtggtaggaggttttttttttta c.*360
. . . . . . g.10519
cccagggctctggaaggacaccaaactgttctgcttgttaccttccctccgtcttctcct c.*420
. . . . . . g.10579
cgcctttcacagtcccctcctgcctgctcctgtccagccaggtctaccacccaccccacc c.*480
. . . . . . g.10639
cctcttctccggctccctgcccctccagattgcctggtgatctattttgtttccttttgt c.*540
. . . . . . g.10699
gtttctttttctgttttgagtgtctttctttgcaggtttctgtagccggaagatctccgt c.*600
. . . . . . g.10759
tccgctcccagcggctccagtgtaaattccccttccccctggggaaatgcactaccttgt c.*660
. . . . . . g.10819
tttggggggtttaggggtgtttttgtttttcagttgttttgtttttttgttttttttttt c.*720
. . . . . . g.10879
tttcctttgccttttttcccttttatttggagggaatgggaggaagtgggaacagggagg c.*780
. . . . . . g.10939
tgggaggtggattttgtttatttttttagctcatttccaggggtgggaatttttttttaa c.*840
. . . . . g.10998
tatgtgtcatgaataaagttgtttttgaaaataaaaattgtttggccttttgggtgtaa c.*899
(downstream sequence)
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