(used for mutation description)
(last modified December 19, 2009)
This file was created to facilitate the description of sequence variants in the PTRF gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_015845.1, covering PTRF transcript NM_012232.5.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.5043
aatcagcgatcagactccggagtttggcccgggagctggggag c.-181
. . . . . . g.5103
ctcaccgatcccccgcccagcagttctggccgctgtcccggtgcgcacggacgtggctcg c.-121
. . . . . . g.5163
agtttcctctgctctccgctctcgcccgctagctctcctcccttccgctcctgcttctct c.-61
. . . . . . g.5223
ccgggtctcccgctccagctccagccccacccggccggtcccgcacggctccgggtagcc c.-1
. . . . . . g.5283
ATGGAGGACCCCACGCTCTATATTGTCGAGCGGCCGCTTCCCGGGTACCCCGACGCCGAG c.60
M E D P T L Y I V E R P L P G Y P D A E p.20
. . . . . . g.5343
GCCCCGGAGCCTTCCTCCGCTGGGGCTCAGGCAGCGGAGGAGCCGTCGGGGGCCGGCTCA c.120
A P E P S S A G A Q A A E E P S G A G S p.40
. . . . . . g.5403
GAAGAGCTGATCAAGTCGGACCAGGTGAACGGCGTGCTGGTGCTGAGCCTCCTGGACAAA c.180
E E L I K S D Q V N G V L V L S L L D K p.60
. . . . . . g.5463
ATCATCGGGGCCGTAGACCAGATCCAGCTGACTCAAGCACAGCTGGAGGAGCGGCAGGCG c.240
I I G A V D Q I Q L T Q A Q L E E R Q A p.80
. . . . . . g.5523
GAGATGGAGGGCGCAGTGCAGAGCATCCAGGGCGAGCTGAGCAAGCTGGGCAAGGCGCAC c.300
E M E G A V Q S I Q G E L S K L G K A H p.100
. . . . . . g.5583
GCCACCACGAGCAATACGGTGAGCAAGCTGCTGGAGAAGGTGCGCAAGGTCAGCGTCAAC c.360
A T T S N T V S K L L E K V R K V S V N p.120
. . . . . . g.5643
GTGAAGACCGTGCGCGGCAGCCTGGAGCGCCAGGCGGGGCAGATCAAGAAGCTGGAGGTC c.420
V K T V R G S L E R Q A G Q I K K L E V p.140
. . . . . | 02 . g.22941
AACGAGGCCGAGCTGCTGCGGCGCCGCAACTTTAAAGTCATGATCTACCAG | GATGAAGTG c.480
N E A E L L R R R N F K V M I Y Q | D E V p.160
. . . . . . g.23001
AAGCTGCCGGCCAAACTGAGCATCAGCAAATCGCTGAAAGAGTCGGAGGCGCTGCCAGAG c.540
K L P A K L S I S K S L K E S E A L P E p.180
. . . . . . g.23061
AAGGAGGGCGAGGAGCTGGGCGAGGGCGAGCGGCCCGAGGAGGACGCAGCGGCGCTGGAG c.600
K E G E E L G E G E R P E E D A A A L E p.200
. . . . . . g.23121
CTTTCGTCGGACGAGGCGGTGGAGGTTGAGGAGGTTATTGAGGAGTCCCGCGCAGAGCGT c.660
L S S D E A V E V E E V I E E S R A E R p.220
. . . . . . g.23181
ATCAAGCGCAGCGGCCTGCGGCGCGTGGACGACTTCAAGAAGGCCTTCTCCAAGGAGAAG c.720
I K R S G L R R V D D F K K A F S K E K p.240
. . . . . . g.23241
ATGGAGAAGACCAAGGTGCGTACCCGCGAGAACCTGGAGAAGACGCGCCTCAAGACCAAG c.780
M E K T K V R T R E N L E K T R L K T K p.260
. . . . . . g.23301
GAAAACCTGGAGAAGACGCGGCACACCCTGGAGAAGCGCATGAACAAGCTGGGCACGCGC c.840
E N L E K T R H T L E K R M N K L G T R p.280
. . . . . . g.23361
CTGGTGCCCGCCGAGCGGCGCGAGAAACTGAAGACGTCGCGGGACAAGTTGCGCAAATCC c.900
L V P A E R R E K L K T S R D K L R K S p.300
. . . . . . g.23421
TTCACGCCCGACCACGTGGTGTACGCGCGCTCCAAGACCGCGGTCTACAAGGTGCCACCC c.960
F T P D H V V Y A R S K T A V Y K V P P p.320
. . . . . . g.23481
TTCACCTTCCACGTCAAGAAGATCCGCGAGGGCCAGGTGGAAGTGCTCAAGGCCACCGAG c.1020
F T F H V K K I R E G Q V E V L K A T E p.340
. . . . . . g.23541
ATGGTGGAGGTGGGCGCCGACGACGACGAGGGCGGCGCGGAGCGCGGGGAGGCCGGCGAC c.1080
M V E V G A D D D E G G A E R G E A G D p.360
. . . . . . g.23601
CTGCGGCGCGGGAGCAGCCCCGACGTGCACGCGCTGCTGGAGATCACCGAGGAGTCGGAC c.1140
L R R G S S P D V H A L L E I T E E S D p.380
. . . g.23634
GCCGTGCTGGTGGACAAGAGCGACAGCGACTGA c.1173
A V L V D K S D S D X p.390
. . . . . . g.23694
gccgcccccgctgccacccaccccattcctcgctccttccgaacttcctctttcgcattc c.*60
. . . . . . g.23754
tctctcggctcgagctggctgagatttttctaaattgaaaacacgcccccctccccacac c.*120
. . . . . . g.23814
ctccaggaactccactcccagtcttagagctgttaggacccgatggggaggcagcccccg c.*180
. . . . . . g.23874
cagtggacaacccccgcttggacacagtccgagtggaatgggaagggaatggtcaatccc c.*240
. . . . . . g.23934
tgtcctggttgtccaagtcgggatctcagaggaaattgcagtgattccacggttaggccc c.*300
. . . . . . g.23994
ccctgggggggctgccttcccctcagcctctccccacaccacccacccagctgctgtcat c.*360
. . . . . . g.24054
tccgctcactgagctcttcttcattctcaccctgatccctgggggactcaaagccaaaac c.*420
. . . . . . g.24114
tgcccaaagaggaaagattgaatcctaaaggggatccctgcccccatgggaggcccccta c.*480
. . . . . . g.24174
ctagaaggacgtgaaagcagcttttgggggaaactgaggcagtggggaagacagagcaga c.*540
. . . . . . g.24234
atgagccctcaccctggctgggggtccagcacaggctgtatctgcagagggtcccagagg c.*600
. . . . . . g.24294
aacgctggagccaagagaagccctgggaaggaggggtggggaacgacatgcatgtgaggg c.*660
. . . . . . g.24354
atggcacactgatgtgtttatgcacctgtacacaggagcgcatggccatggctttggaaa c.*720
. . . . . . g.24414
ggagaatggaaaaatagaagaaggtcggccgggcttggtggcttatgcctgtaaccccag c.*780
. . . . . . g.24474
cactttgggaggccgaggtgggcggatcacctgaagtcaggagttcgggaccagcctggc c.*840
. . . . . . g.24534
aaacaccccatctctactaagcgaaaacccatctctactaaaattacaaaaattagctgg c.*900
. . . . . . g.24594
gcatggttgcgcatgcctgtaatcccagctactttggaggctgaggtggggagaattgct c.*960
. . . . . . g.24654
tgaacctgggaggtggaggttgcagtgagccaaggtcgcgacactgcactccagcctggg c.*1020
. . . . . . g.24714
tgacagagtgagactccatctcaacagaaggaaaaaaaaggaaaataggagaaggtggaa c.*1080
. . . . . . g.24774
atgggtgaagagagaagtcccctcactagctgcatgagaaatctatcttactgtggttct c.*1140
. . . . . . g.24834
ccatgggcagcaggaccatttttcagaatcaagagggaggacagtgtgagaaggcgatga c.*1200
. . . . . . g.24894
tccaaagaagacagagaggtcagccccacccgatccctcaaatgggctcttggaggcacc c.*1260
. . . . . . g.24954
cccaggggcagcccatttctcaaagtccagaaaattagggtcccagaagggggcagcagc c.*1320
. . . . . . g.25014
aggctgggagttaggagggagagcagggtgccggccctgccaccaagttgagagctggag c.*1380
. . . . . . g.25074
gggaggtggggagagaacatcacagagcagccagccctggttcactcctggcagtttctt c.*1440
. . . . . . g.25134
ctcaagctccttccctaggagcatggtggcacgtgcctgtggtctcagctacttgggagg c.*1500
. . . . . . g.25194
ctgaggcgggaggatcgccagagcccaggagtttgaggctgcagtgagctatgagggtgc c.*1560
. . . . . . g.25254
ctctgtgctccatcctaggcaacagagtgatacgctgtttaaaaaggaaaaaatccttcc c.*1620
. . . . . . g.25314
ctagagctagtatcctaaagctgcagagctagcccagacctcattggtttccttgtcctt c.*1680
. . . . . . g.25374
ggggtgcttttcctgaatctttgcgggtgaagggagtgttgctcccagtccagaggcctg c.*1740
. . . . . . g.25434
attctgtttggactgggttctcaagacacgaccaggttctcaagacacgagtccccttgt c.*1800
. . . . . . g.25494
tcctccccattaaagggggtttgtcagaagcaagaacagcccctctccccagtcacagcc c.*1860
. . . . . . g.25554
tgaagggaggccccgagagcttcctccttccccccacctgctccttaccttctctgccct c.*1920
. . . . . . g.25614
gctttttagaactgcagttcattgttttaagggattgggggagggagcctggggacacaa c.*1980
. . . . . . g.25674
accttttatacaatacaaagctttgctttttttttttttttcttccttttccctttctcg c.*2040
. . . . . . g.25734
gttctcttctctcctctgaatggctgaagacccctctgccgagggaggttggggattgtg c.*2100
. . . . . . g.25794
ggacaaggtcccttggtgctgatggcctgaaggggcctgagctgtgggcagatgcagttt c.*2160
. . . . . . g.25854
tctgtgggcttggggaacctctcacgttgctgtgtcctggtgagcagcccgaccaataaa c.*2220
. g.25872
cctgcttttctaaaagga c.*2238
(downstream sequence)
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