(used for variant description)
(last modified August 15, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_005041.4 in the PRF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009615.1, covering PRF1 transcript NM_005041.4.
(upstream sequence)
. g.5015
gaagtgatgtgagtg c.-121
. . . . . . g.5075
gtggctggtgcaaggagccacagtgggctgcctggggggctgatgccaccattccaggag c.-61
. . . . . . | 02 g.6873
cctcggtgaagagaggatatccatctgtgtagccgcttctctatacgggattccag | ctcc c.-1
. . . . . . g.6933
ATGGCAGCCCGTCTGCTCCTCCTGGGCATCCTTCTCCTGCTGCTGCCCCTGCCCGTCCCT c.60
M A A R L L L L G I L L L L L P L P V P p.20
. . . . . . g.6993
GCCCCGTGCCACACAGCCGCACGCTCAGAGTGCAAGCGCAGCCACAAGTTCGTGCCTGGT c.120
A P C H T A A R S E C K R S H K F V P G p.40
. . . . . . g.7053
GCATGGCTGGCCGGGGAGGGTGTGGACGTGACCAGCCTCCGCCGCTCGGGCTCCTTCCCA c.180
A W L A G E G V D V T S L R R S G S F P p.60
. . . . . . g.7113
GTGGACACACAAAGGTTCCTGCGGCCCGACGGCACCTGCACCCTCTGTGAAAATGCCCTA c.240
V D T Q R F L R P D G T C T L C E N A L p.80
. . . . . . g.7173
CAGGAGGGCACCCTCCAGCGCCTGCCTCTGGCGCTCACCAACTGGCGGGCCCAGGGCTCT c.300
Q E G T L Q R L P L A L T N W R A Q G S p.100
. . . . . . g.7233
GGCTGCCAGCGCCATGTAACCAGGGCCAAAGTCAGCTCCACTGAAGCTGTGGCCCGGGAT c.360
G C Q R H V T R A K V S S T E A V A R D p.120
. . . . . . g.7293
GCGGCTCGTAGCATCCGCAACGACTGGAAGGTCGGGCTGGACGTGACTCCTAAGCCCACC c.420
A A R S I R N D W K V G L D V T P K P T p.140
. . . . . . g.7353
AGCAATGTGCATGTGTCTGTGGCCGGCTCACACTCACAGGCAGCCAACTTTGCAGCCCAG c.480
S N V H V S V A G S H S Q A A N F A A Q p.160
. . . . . | 03 g.8595
AAGACCCACCAGGACCAGTACAGCTTCAGCACTGACACGGTGGAGTGCCGCTTCTACAG | T c.540
K T H Q D Q Y S F S T D T V E C R F Y S | p.180
. . . . . . g.8655
TTCCATGTGGTACACACTCCCCCGCTGCACCCTGACTTCAAGAGGGCCCTCGGGGACCTG c.600
F H V V H T P P L H P D F K R A L G D L p.200
. . . . . . g.8715
CCCCACCACTTCAACGCCTCCACCCAGCCCGCCTACCTCAGGCTTATCTCCAACTACGGC c.660
P H H F N A S T Q P A Y L R L I S N Y G p.220
. . . . . . g.8775
ACCCACTTCATCCGGGCTGTGGAGCTGGGTGGCCGCATATCGGCCCTCACTGCCCTGCGC c.720
T H F I R A V E L G G R I S A L T A L R p.240
. . . . . . g.8835
ACCTGCGAGCTGGCCCTGGAAGGGCTCACGGACAACGAGGTGGAGGACTGCCTGACTGTC c.780
T C E L A L E G L T D N E V E D C L T V p.260
. . . . . . g.8895
GAGGCCCAGGTCAACATAGGCATCCACGGCAGCATCTCTGCCGAAGCCAAGGCCTGTGAG c.840
E A Q V N I G I H G S I S A E A K A C E p.280
. . . . . . g.8955
GAGAAGAAGAAGAAGCACAAGATGACGGCCTCCTTCCACCAAACCTACCGGGAGCGCCAC c.900
E K K K K H K M T A S F H Q T Y R E R H p.300
. . . . . . g.9015
TCGGAAGTGGTTGGCGGCCATCACACCTCCATTAACGACCTGCTGTTCGGGATCCAGGCC c.960
S E V V G G H H T S I N D L L F G I Q A p.320
. . . . . . g.9075
GGGCCCGAGCAGTACTCAGCCTGGGTAAACTCGCTGCCCGGCAGCCCTGGCCTGGTGGAC c.1020
G P E Q Y S A W V N S L P G S P G L V D p.340
. . . . . . g.9135
TACACCCTGGAACCCCTGCACGTGCTGCTGGACAGCCAGGACCCGCGGCGGGAGGCACTG c.1080
Y T L E P L H V L L D S Q D P R R E A L p.360
. . . . . . g.9195
AGGAGGGCCCTGAGTCAGTACCTGACGGACAGGGCTCGCTGGAGGGACTGCAGCCGGCCG c.1140
R R A L S Q Y L T D R A R W R D C S R P p.380
. . . . . . g.9255
TGCCCACCAGGGCGGCAGAAGAGCCCCCGAGACCCATGCCAGTGTGTGTGCCATGGCTCA c.1200
C P P G R Q K S P R D P C Q C V C H G S p.400
. . . . . . g.9315
GCGGTCACCACCCAGGACTGCTGCCCTCGGCAGAGGGGCCTGGCCCAGCTGGAGGTGACC c.1260
A V T T Q D C C P R Q R G L A Q L E V T p.420
. . . . . . g.9375
TTCATCCAAGCATGGGGCCTGTGGGGGGACTGGTTCACTGCCACGGATGCCTATGTGAAG c.1320
F I Q A W G L W G D W F T A T D A Y V K p.440
. . . . . . g.9435
CTCTTCTTTGGTGGCCAGGAGCTGAGGACGAGCACCGTGTGGGACAATAACAACCCCATC c.1380
L F F G G Q E L R T S T V W D N N N P I p.460
. . . . . . g.9495
TGGTCAGTGCGGCTGGATTTTGGGGATGTGCTCCTGGCCACAGGGGGGCCCCTGAGGTTG c.1440
W S V R L D F G D V L L A T G G P L R L p.480
. . . . . . g.9555
CAGGTCTGGGATCAGGACTCTGGCAGGGACGATGACCTCCTTGGCACCTGTGATCAGGCT c.1500
Q V W D Q D S G R D D D L L G T C D Q A p.500
. . . . . . g.9615
CCCAAGTCTGGTTCCCATGAGGTGAGATGCAACCTGAATCATGGCCACCTAAAATTCCGC c.1560
P K S G S H E V R C N L N H G H L K F R p.520
. . . . . . g.9675
TATCATGCCAGGTGCTTGCCCCACCTGGGAGGAGGCACCTGCCTGGACTATGTCCCCCAA c.1620
Y H A R C L P H L G G G T C L D Y V P Q p.540
. . . . g.9723
ATGCTTCTGGGGGAGCCTCCAGGAAACCGGAGTGGGGCCGTGTGGTGA c.1668
M L L G E P P G N R S G A V W X p.555
. . . . . . g.9783
gaacagtgagcttggaaaggaccagtatgcttggactgaaggggttctcacagtgggagc c.*60
. . . . . . g.9843
cagggctgtcttcgtattcccattagaccaagcttgtccaacccgaggcccgcatgcggc c.*120
. . . . . . g.9903
ccaggatggctttgaatgcggcccaacgcaaattcgcaaactttcttaaaacattatgag c.*180
. . . . . . g.9963
tttctttttgctattttttttttttttttagctcatcggctatcgttagtgctagtggat c.*240
. . . . . . g.10023
tttacatgtggcccaacacaattcttcttccaacgtggcccagagaagccaaaagattgg c.*300
. . . . . . g.10083
atacgcatcagacagatggaaaagggagattcagactgtttttcagggaggtggctgggt c.*360
. . . . . . g.10143
ttacacgctaatcccgattcaccctgtccaaactgcctaagccctccgccattctcaagc c.*420
. . . . . . g.10203
cctgcagtcacagctacacagatcacagcttcagccaggagctgggcagaaggccaagag c.*480
. . . . . . g.10263
gctgttcccaccaggctgctcagggctggtcttttaggacccttcccttgagccctctat c.*540
. . . . . . g.10323
ggtgtggcaaagccttcattgccttaactggagccccatcagctccagctgctctgtctt c.*600
. . . . . . g.10383
ctttgcccacaatgctttgcccctgagacaaatggaggcctgtcctgacctgtctcacca c.*660
. . . . g.10428
tgtacatagcttgataaagggccaataaatatgatgttatggtga c.*705
(downstream sequence)
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