(used for mutation description)
(last modified March 24, 2010)
This file was created to facilitate the description of sequence variants in the FKRP gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008898.1, covering FKRP transcript variant 1 (NM_024301.4). Transcript variant 2 (NM_001039885.2) uses an alternative splice acceptor site in exon 03b.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . | 02. g.6993
gtcccggcggccattgctccaagatggcggcggcggcggcagcgg | gagcgcagctca c.-241
. . . . . | 03 g.7479
gctgggctggaactgccctcctggaactcccccagcctacaacctaggag | gtgcagggac c.-181
. . . . . . g.7539
tgaggctcaggccaaatcgcaactcagacccagtgaacccaaggcctgaagagaatttgg c.-121
. . . . . . g.7599
attcatttaccttgttttgtggggactggagagacaagtaaactctcagagtaactgtcc c.-61
. . . | 04 . . . g.14405
cctctgactaccatttctaag | gatgccccggaggcccagctagccccagacttcggcccc c.-1
. . . . . . g.14465
ATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTC c.60
M R L T R C Q A A L A A A I T L N L L V p.20
. . . . . . g.14525
CTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGT c.120
L F Y V S W L Q H Q P R N S R A R G P R p.40
. . . . . . g.14585
CGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGAC c.180
R A S A A G P R V T V L V R E F E A F D p.60
. . . . . . g.14645
AACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTG c.240
N A V P E L V D S F L Q Q D P A Q P V V p.80
. . . . . . g.14705
GTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGT c.300
V A A D T L P Y P P L A L P R I P N V R p.100
. . . . . . g.14765
CTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTAC c.360
L A L L Q P A L D R P A A A S R P E T Y p.120
. . . . . . g.14825
GTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTG c.420
V A T E F V A L V P D G A R A E A P G L p.140
. . . . . . g.14885
CTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTT c.480
L E R M V E A L R A G S A R L V A A P V p.160
. . . . . . g.14945
GCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCC c.540
A T A N P A R C L A L N V S L R E W T A p.180
. . . . . . g.15005
CGCTATGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACGGAGATGCTGTGGTG c.600
R Y G A A P A A P R C D A L D G D A V V p.200
. . . . . . g.15065
CTCCTGCGCGCCCGCGACCTCTTCAACCTCTCGGCGCCCCTGGCCCGGCCGGTGGGCACC c.660
L L R A R D L F N L S A P L A R P V G T p.220
. . . . . . g.15125
AGCCTCTTTCTGCAGACCGCCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGACCTTC c.720
S L F L Q T A L R G W A V Q L L D L T F p.240
. . . . . . g.15185
GCCGCGGCGCGCCAGCCCCCGCTGGCCACGGCCCACGCGCGCTGGAAGGCTGAGCGCGAG c.780
A A A R Q P P L A T A H A R W K A E R E p.260
. . . . . . g.15245
GGACGCGCTCGGCGGGCGGCGCTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAA c.840
G R A R R A A L L R A L G I R L V S W E p.280
. . . . . . g.15305
GGCGGGCGGCTGGAGTGGTTCGGCTGCAACAAGGAGACCACGCGCTGCTTCGGAACCGTG c.900
G G R L E W F G C N K E T T R C F G T V p.300
. . . . . . g.15365
GTGGGCGACACGCCCGCCTACCTCTACGAGGAGCGCTGGACGCCCCCCTGCTGCCTGCGC c.960
V G D T P A Y L Y E E R W T P P C C L R p.320
. . . . . . g.15425
GCGCTGCGCGAGACCGCCCGCTATGTGGTGGGCGTGCTGGAGGCTGCGGGCGTGCGCTAC c.1020
A L R E T A R Y V V G V L E A A G V R Y p.340
. . . . . . g.15485
TGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGAC c.1080
W L E G G S L L G A A R H G D I I P W D p.360
. . . . . . g.15545
TACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGG c.1140
Y D V D L G I Y L E D V G N C E Q L R G p.380
. . . . . . g.15605
GCAGAGGCCGGCTCGGTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGAGGGC c.1200
A E A G S V V D E R G F V W E K A V E G p.400
. . . . . . g.15665
GACTTTTTCCGCGTGCAGTACAGCGAAAGCAACCACTTGCACGTGGACCTGTGGCCCTTC c.1260
D F F R V Q Y S E S N H L H V D L W P F p.420
. . . . . . g.15725
TACCCCCGCAATGGCGTCATGACCAAGGACACGTGGCTGGACCACCGGCAGGATGTGGAG c.1320
Y P R N G V M T K D T W L D H R Q D V E p.440
. . . . . . g.15785
TTTCCCGAGCACTTCCTGCAGCCGCTGGTGCCCCTGCCCTTTGCCGGCTTCGTGGCGCAG c.1380
F P E H F L Q P L V P L P F A G F V A Q p.460
. . . . . . g.15845
GCGCCTAACAACTACCGCCGCTTCCTGGAGCTCAAGTTCGGGCCCGGGGTCATCGAGAAC c.1440
A P N N Y R R F L E L K F G P G V I E N p.480
. . . . g.15893
CCCCAGTACCCCAACCCGGCACTGCTGAGTCTGACGGGAAGCGGCTGA c.1488
P Q Y P N P A L L S L T G S G X p.495
. . . . . . g.15953
agccctgataacctcgcctttgtttttcgggggtctgtctggatgtggagaagctctgtg c.*60
. . . . . . g.16013
tgagcggtgaggggtggagggatgtcgcggagaggggaagggggaaactgaccaagaaag c.*120
. . . . . . g.16073
aaattctaaggagagcatgagagaaggctggcattggcaggaggagagcaccaggacgag c.*180
. . . . . . g.16133
gatgggaagcgacctccagatttatcaaatggtcatgcccactgggagccgtggatatgc c.*240
. . . . . . g.16193
gtggggacatcctgggtcatctcagtcatggagggagacggggatgtcacgccgtcccgc c.*300
. . . . . . g.16253
agggcccagcacagccccagacccgaaaaaagtgttctgcccaagattccgagagccctg c.*360
. . . . . . g.16313
cgctctagggcaggggcagagttttggaaacagtgcaggctctggagccagactggcgag c.*420
. . . . . . g.16373
attcaaatcctggctctatcgcttcggagccaggtgggcctgggggggcgtcgcagtctc c.*480
. . . . . . g.16433
tctgtgcctcagttgcttccaggatgcgggacccttggctgcaggggttgcttccgccac c.*540
. . . . . . g.16493
tagagggcgcgccggtcccgctcctggtggcccactgtggctgcccgggcgacagtacgc c.*600
. . . . . . g.16553
ccagggcctgtgttccatagccatctactctcttgagcctttggacttctctccaagccc c.*660
. . . . . . g.16613
ctgtgggaggcggacagcagtgaccacctccccttcttttggactgcgacctccttccct c.*720
. . . . . . g.16673
cctgggagagccctgtgacctgcatgctactcttaactgttctattcaagactgaataga c.*780
. . . . . . g.16733
agtatttcagtcttgcagaggaggaaatgctcagagctccgaggtgcggctgtggtcgag c.*840
. . . . . . g.16793
aaccgggtgctgggccgggcgcgggggctcacgcctgtaatcccagcactttgggaggcc c.*900
. . . . . . g.16853
gaggtgggaggatcgcttgagcccaggagtctgagaccagcctcggcaacatgccaagac c.*960
. . . . . . g.16913
cccgtctctatttttaaaaaagaaaaagaaccgacttctgaatcgcagctccactcatga c.*1020
. . . . . . g.16973
ctaatacctcattatttcagctgtctgcacctaattccccacttgcacggcagtgtagac c.*1080
. . . . . . g.17033
aataaccatagctcacactcactgagcacctactgggtaccaggcaccattctcagtgtt c.*1140
. . . . . . g.17093
tcacctggatcaactaatgcgtccctcacctcagccctctgaagtgacagctgctattat c.*1200
. . . . . . g.17153
tttcattacacagatgaaaaagctgaggccagaatcgtgaagtcacttgctcaaggtcag c.*1260
. . . . . . g.17213
gcagcttaggaaggggcagatcgggggcttgaacccaggtggtcaggctctggagcccac c.*1320
. . . . . . g.17273
aattgtcttacccactatgcccctctctagtcatggtccccaagaggggcttggagaccc c.*1380
. . . . . . g.17333
acttagcaggtgaaagcaatggcagccttccttatttgattatgcacctaagaataaatg c.*1440
. . . . . . g.17393
gtatttgggcatgtattcccaatatgtgtatatttatttataaatatatacagatactat c.*1500
. . . . . . g.17453
tatctgtatgttagtaataaagcttaaattattccattttaaaattatgaatatgaatag c.*1560
. . . . . . g.17513
ggttttttttatgtttcttgcctcatcccaatgacttttgcacacccaggtgtgagcacc c.*1620
. g.17530
cagcattcaagaccacg c.*1637
(downstream sequence)
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