(used for mutation description)
(last modified February 13, 2011)
This file was created to facilitate the description of sequence variants in the FKTN gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008754.1, covering FKTN transcript-1 (NM_001079802.1). Transcript variant-2 (NM_006731.2) skips exon 02. Transcript variant-3 (NM_001198963.1) uses an alternatively spliced intron, derived from exon 11, encoding an alternative shorter C-terminus (protein isoform b). Intron 2 contains an alternatively spliced exon 02b.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . g.5036
gtaaagcggagcggctgcagcctgctgttgagtgag c.-181
| 02 . . . . . g.20585
| attgaaaggaaacacactgaatgaggaaaaactaacatacggtcatcaacatccttgtat c.-121
^ alternatively spliced exon
. . . . | 03 . . g.21843
aacctagtttttaaaaaaattggatttcaaag | aaaacaaaattatcttcctttccaaatc c.-61
^ contains alternatively spliced exon 02b
. . . . . . g.21903
caaaaagatgaaaacgactgagatactttcaaaagacaaccaagtgagcagcacagacta c.-1
. . . . . . g.21963
ATGAGTAGAATCAATAAGAACGTGGTTTTGGCCCTTTTAACGCTGACAAGTTCTGCATTT c.60
M S R I N K N V V L A L L T L T S S A F p.20
. . . . | 04 . . g.43483
CTGCTGTTTCAGTTGTACTACTACAAGCACTATTTATCAACAAAG | AATGGAGCTGGTTTG c.120
L L F Q L Y Y Y K H Y L S T K | N G A G L p.40
. . . . | 05 . . g.48030
TCAAAATCCAAAGGAAGCCGAATTGGATTTGATAGCACACAGTGG | CGTGCAGTTAAAAAA c.180
S K S K G S R I G F D S T Q W | R A V K K p.60
. . . . . . g.48090
TTTATTATGTTAACATCCAACCAAAATGTACCAGTGTTTCTTATTGATCCTTTGATACTG c.240
F I M L T S N Q N V P V F L I D P L I L p.80
. . . . . . g.48150
GAATTGATTAATAAGAACTTTGAACAAGTCAAAAATACTTCTCATGGCTCTACTTCACAA c.300
E L I N K N F E Q V K N T S H G S T S Q p.100
. . . . . . g.48210
TGCAAGTTTTTCTGTGTTCCAAGAGACTTTACTGCATTTGCACTGCAGTATCACCTATGG c.360
C K F F C V P R D F T A F A L Q Y H L W p.120
| 06 . . . . . g.51136
AAGAATGAG | GAAGGCTGGTTTCGGATAGCTGAGAATATGGGATTTCAGTGCCTAAAGATT c.420
K N E | E G W F R I A E N M G F Q C L K I p.140
. . . . . . g.51196
GAGAGTAAAGATCCCCGGCTAGACGGGATAGACTCACTCTCTGGAACTGAAATCCCCCTG c.480
E S K D P R L D G I D S L S G T E I P L p.160
. . . . . . g.51256
CACTATATCTGCAAACTGGCCACTCATGCGATCCACTTGGTAGTCTTTCATGAGAGGAGT c.540
H Y I C K L A T H A I H L V V F H E R S p.180
. . . . . . g.51316
GGCAACTACCTCTGGCACGGCCACTTGAGACTTAAAGAACACATTGACAGGAAATTTGTT c.600
G N Y L W H G H L R L K E H I D R K F V p.200
. . . . | 07. . g.54702
CCCTTCCGAAAGTTACAGTTTGGTCGTTATCCAGGAGCTTTTGACAG | GCCAGAGTTACAG c.660
P F R K L Q F G R Y P G A F D R | P E L Q p.220
. . . . . . g.54762
CAAGTTACTGTTGATGGACTGGAAGTTCTCATTCCAAAGGATCCAATGCACTTTGTAGAA c.720
Q V T V D G L E V L I P K D P M H F V E p.240
. . . . . . g.54822
GAAGTACCACACTCTAGGTTTATTGAGTGTAGGTATAAAGAAGCTCGAGCATTCTTTCAG c.780
E V P H S R F I E C R Y K E A R A F F Q p.260
| 08 . . . . . . g.62208
| CAGTACCTTGATGATAACACTGTGGAAGCTGTGGCCTTTCGGAAGAGTGCAAAGGAATTA c.840
| Q Y L D D N T V E A V A F R K S A K E L p.280
. . . . . . g.62268
CTGCAACTAGCAGCGAAAACATTAAACAAATTGGGAGTACCATTCTGGCTGAGCAGTGGA c.900
L Q L A A K T L N K L G V P F W L S S G p.300
. | 09 . . . . . g.64879
ACTTGTCTAG | GATGGTATCGACAATGCAACATTATTCCTTATAGCAAAGATGTTGACCTA c.960
T C L G | W Y R Q C N I I P Y S K D V D L p.320
. . . . . . g.64939
GGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTT c.1020
G I F I Q D Y K S D I I L A F Q D A G L p.340
. . | 10 . . . . g.66840
CCGCTCAAACACAAATTTGGGAAG | GTAGAAGACAGCTTGGAACTATCCTTCCAGGGAAAA c.1080
P L K H K F G K | V E D S L E L S F Q G K p.360
. . . . . . g.66900
GATGATGTAAAACTTGATGTTTTTTTCTTCTATGAAGAAACTGATCACATGTGGAATGGA c.1140
D D V K L D V F F F Y E E T D H M W N G p.380
. . . | 11 . . . g.81949
GGCACTCAGGCCAAAACAGGAAAAAAATTCAA | ATACCTGTTTCCGAAGTTTACACTGTGC c.1200
G T Q A K T G K K F K | Y L F P K F T L C p.400
. . . . . . g.82009
TGGACTGAGTTTGTAGACATGAAGGTCCATGTACCCTGTGAAACCCTCGAATACATTGAA c.1260
W T E F V D M K V H V P C E T L E Y I E p.420
. / . . . . . g.82069
GCCAACTATG / GTAAGACCTGGAAGATTCCTGTAAAGACGTGGGACTGGAAGCGCTCTCCT c.1320
A N Y G / K T W K I P V K T W D W K R S P p.440
^ alternatively spliced from within exon 11, encodes alternative C-terminus protein
. . . . . . g.82129
CCCAATGTGCAACCCAATGGAATCTGGCCTATTTCTGAGTGGGATGAGGTTATCCAGTTA c.1380
P N V Q P N G I W P I S E W D E V I Q L p.460
g.82135
TATTGA c.1386
Y X p.461
. . . . . . g.82195
gatagtaggttgaaatgggagaatttctcttttggaaaaaaaggtagataactgtttaaa c.*60
. . . . . . g.82255
aaatacatgtctatttgtcaaacataagtgggaaccaaagaaaaaatgtgacaagtttga c.*120
. . . . . . g.82315
agacacagaaagagtcatctgatgtaattctctcacttagtactgaggaattttcatgtg c.*180
. . . . . . g.82375
ccacatacaatgctaggttacagtggagaagcctagatgaatgagacaaatacctacttc c.*240
. . . . . . g.82435
ttttattcctccttttggtaaacaactcaattttcctttgagggaaccctcccccaccct c.*300
. . . . . . g.82495
ttgaagagttcaagttctgtacaggtttttaaaacgtgaagtaatgtttgaactggaaga c.*360
. . . . . . g.82555
tgagctcaccaggcaaagctaaggaaggatatactagttgaaaagaataacccactcctc c.*420
. . . . . . g.82615
ttctgggcatttaagctggtatgttagtgctacttttaagattgtggagtctgagttaat c.*480
. . . . . . g.82675
attcaagtgatcagactttgagtgacatcaagaaaagatgatatcaggttcatttttcaa c.*540
. . . . . . g.82735
ctaatcttatgtggaattgaattagagaacaaggcattattcttttagggaaggtgagag c.*600
. . . . . . g.82795
cttatttgtatcagagcttattacttgtcaggataagtaaatttctgtacatgtactgtt c.*660
. . . . . . g.82855
ttcatatgtgaagtgagaagaaactttatgcttgtttaatgcttaaatttccatccattg c.*720
. . . . . . g.82915
tgagaatattttcactgacctctgatggcacttgttgacaaatcattcaagtgagaccat c.*780
. . . . . . g.82975
gttactagacatgatcttgaaagaggccatgatttcacaaaactcatttttattttattc c.*840
. . . . . . g.83035
tcagacagtctgttaggtaaaaatatgagaaattcatgtacattttatattttctgaatt c.*900
. . . . . . g.83095
tataatctgtgcactcccaattttaatgacactaaaatattaatagaattttttaaatat c.*960
. . . . . . g.83155
actctaatttttaaaacatactctttattatcttcatttatcaattacagcttcgtatct c.*1020
. . . . . . g.83215
ctaatttatggtctatataccaatttaaatggcatgtaaacctgcctgtttcttctcctc c.*1080
. . . . . . g.83275
ttctaatatatcagatctccaaaatggaagctaaatggtggacttgacaactattcaccc c.*1140
. . . . . . g.83335
tacctcagatcatagagtttgtaaagtttgtgtccctccccagtttttcagtctgttgaa c.*1200
. . . . . . g.83395
tgtcgatggggcaagaactcagacttctactttaccaagtaccacacactctggaatgct c.*1260
. . . . . . g.83455
ttagtttccttttcccctcaagatgtctgagtcagctaggatgctgtttaccccatctct c.*1320
. . . . . . g.83515
ctcttatatcacttgaatgatatattgtaagtgagaggtaaaggaaaatgtaggcacaat c.*1380
. . . . . . g.83575
aagcactgctatttttctctttgtctaggaaaggaagctgaatcttatatcttatctatg c.*1440
. . . . . . g.83635
ctatttaggactactttctggagcttggcagattttcctctgacaccagagaacaatagt c.*1500
. . . . . . g.83695
agtctcaagaatggaaacctgaatgtctgagggaatgggctggtagactttttcgaaaac c.*1560
. . . . . . g.83755
aaattagagaaagtaacttacaaccacccattccggatttgtaaagcaacatgaaaacct c.*1620
. . . . . . g.83815
ttgataaatgataaccaacagtcttctgtcctaatttgcattctcaatgcagaattattg c.*1680
. . . . . . g.83875
ggtctttcataaataacatgagtggtttctggagacatttaagattgtcagcaaacttgt c.*1740
. . . . . . g.83935
cccaaaatggcacatcatcataatccattttctctttgctagaaaatcagcccatagagt c.*1800
. . . . . . g.83995
gcattcccaaattctaaatagctgaccctaaattcatttttcatgcttaaaaataataga c.*1860
. . . . . . g.84055
acaaataataatactatttttgggcaaaatccaccctacttgatgaggaccatttgcttg c.*1920
. . . . . . g.84115
tgctcagtatttagaaatgcatacactccacatttctccccatttccaattgggactccc c.*1980
. . . . . . g.84175
attctttgccaggagatcttacccatcccttttcagattaatcttttatcctttcctgaa c.*2040
. . . . . . g.84235
gtacaaagtcttaagagtgtctgaaatccaagacatcttggcccaattgacacaggttct c.*2100
. . . . . . g.84295
atattcttccctacatagaccactggctgctgaaatacttttcttgtcttctggtttcac c.*2160
. . . . . . g.84355
aggcttcagctcatgggttccaccctaacttggggaaacaaaagccttctctagaatctg c.*2220
. . . . . . g.84415
aaggccaggcttacctctgattctgattcatccatacttcatcttatgtattttaacagt c.*2280
. . . . . . g.84475
tgggttctgtggagtgtccagagaccttgggttaggtatatccatcttcagtacctcatt c.*2340
. . . . . . g.84535
ggatcacttttctttcatcacttgagtattctagcagtcattctcctaatctgaccactt c.*2400
. . . . . . g.84595
tcaggtttagtttacctggcttacctggggaagttgacaacttgttggtagttaggcacc c.*2460
. . . . . . g.84655
catgaatgtctccagagacatcctgagaggcaagattcctcttaattgataaccaggaca c.*2520
. . . . . . g.84715
accaggtagtcacccagtcctctctaagcagggagcacttgtccttctctcctctgctgc c.*2580
. . . . . . g.84775
agctactgatatctggcccctggaataaaaccatagttcctaaaattgagcatccctaag c.*2640
. . . . . . g.84835
agtagctgcttggtgggacagctgatttctttgattccctagctgcaaaacctgaaattg c.*2700
. . . . . . g.84895
accactaggtgacagaatgtttgccagtatccccacaaaacaagttaaaacttaagtgaa c.*2760
. . . . . . g.84955
aatcattctgcttttgaatcttaaaagctagaaaaaccataatgtaatattctttttaaa c.*2820
. . . . . . g.85015
ccctcttattttataactaaataaataatcacagaaaagaatgatctgaacaagaacagc c.*2880
. . . . . . g.85075
tgaggctaaaacccaagactgccgtgactcctagtccaatgtctgtttcgcatcacaaca c.*2940
. . . . . . g.85135
cagtatctttaacagtgcttgagatgcttaacagagaaggcatccagtgcttcattgagg c.*3000
. . . . . . g.85195
ctaagtctcagggtgtttctgccgcttagtatctttttgttcagattgagaacctaaggc c.*3060
. . . . . . g.85255
gacagagaggtcaaggggaagtattttctagttcagaattcagaattcttaggcaacctt c.*3120
. . . . . . g.85315
catacctttatctggaaaatgccttctctccagacaataagacagttcacatctggagac c.*3180
. . . . . . g.85375
atcagcctttggtacctaattctctaagctcaagatgcatcccattgccactttaccatt c.*3240
. . . . . . g.85435
ctatttcccaagggaaccatcagcaccaacctgctaaatgcctgtatttgaagtctctcc c.*3300
. . . . . . g.85495
ccttcctgaagtgaccttttatgaggctctttccttcctaagggacctttccctggtagt c.*3360
. . . . . . g.85555
agtggtctcattcacaaaaaagaataatagatgtaactggagtcactttgcagttttcaa c.*3420
. . . . . . g.85615
gattttttttttatctgcttggctggaaaggagactagagtatctagtttttagtattta c.*3480
. . . . . . g.85675
aactacttttaattatttatattgatactctctgataaatgcaggtagttaagaatagat c.*3540
. . . . . . g.85735
tgtactcattcctttttgagtttgtgacctcaaaccattgtttttattcttacacgacta c.*3600
. . . . . . g.85795
cagtacttcaaatggcacatagataggcaggatattacataggtaagcaggaatttatac c.*3660
. . . . . . g.85855
attgggtaccagagctaaatctggaaaacacatttggaatgagcttccacacttcagtct c.*3720
. . . . . . g.85915
aaaatctcacccaaacttatggctacatatttttctaagtttcccccctagtttcacttt c.*3780
. . . . . . g.85975
ctggaaagtgaacagttttttaaatcctaaatgttataaatccttaggagaaatattccc c.*3840
. . . . . . g.86035
tcaaaacctagtcaagaaagtgccacattcccaccttctaacaggtaattattagttgta c.*3900
. . . . . . g.86095
atagctttaatgcatggaaaaacttcagttactgaccagtcaagagaatttctcaagaaa c.*3960
. . . . . . g.86155
aatcccagcaacgttccctctttcctccttgtcttccactatcattaagacctgggctag c.*4020
. . . . . . g.86215
atcacctctaacatctcactcagggaaggcaatgtgttgccataaaaagaccacaagctt c.*4080
. . . . . . g.86275
ttgagttaggcctgaatttgaatttcagcttaatcatgtgggatttatggtgggggccct c.*4140
. . . . . . g.86335
ttcagtctcaatttccacattagtgaactggggaaatgatacatacttctaagggttttt c.*4200
. . . . . . g.86395
agggggattaaatgaagtatacagttcttagcctcaggcctaggattaagtaagtactca c.*4260
. . . . . . g.86455
agaaatgtgcaattttctagttccatgtttcttttctaatcttcaaatggaattatagaa c.*4320
. . . . . . g.86515
accatgggtcagaacatattcctttactcaaaagattgcatgactgaatttgcttaagaa c.*4380
. . . . . . g.86575
aaaaaaaattgtatcaagtcattaatacaattatacattaattatattacattaatacaa c.*4440
. . . . . . g.86635
tatatggtttgtgaattcagagacattaccagtttgcctccttctctcaatagaacttgt c.*4500
. . . . . . g.86695
attttcattttcttggttaagcagttgtctcctaatattatcccatatgctacctagttt c.*4560
. . . . . . g.86755
gctggtcccaagcagtttactgtacttcactagatttggtacctgctctcccctggactt c.*4620
. . . . . . g.86815
ctttttcaatattctagcctttcctagatgtaaatctttacctccttgttagtgaaatta c.*4680
. . . . . . g.86875
gatataagccatgatttggagagggaagaaatctggaatacttaatttcatttaattatc c.*4740
. . . . . . g.86935
tatgctgatgaatgcctgtatcattgttaataaaggagaattgaaaatactcatttctac c.*4800
. . . / . . . g.86995
tttctgccctcaaatttctgtttctatctcaactag / gcaagaatcagcagggtgcatgat c.*4860
/ K N Q Q G A * p.424+6
^ alternative C-terminal sequence
. . . . . . g.87055
gccattttaagctgcttcacatcagactgaaatcctaattacagttcataagtgaaacag c.*4920
. . . . . . g.87115
actaattcaatggcaataccttttgtataggtcctgtgcttaaaggaggcaagtataaat c.*4980
. . . . . . g.87175
tttctaataagaaatccctgcttcttttgggtgcagtggctcacacctgtaataccagca c.*5040
. . . . . . g.87235
gtttgagaagctaaggcaggtggatcacttgaggccaggagttcgagaccagcctggcca c.*5100
. . . . . . g.87295
acatagtgaaaccccgtctcttctaaaaatacaaaaaaattagctgggcatggtggtgca c.*5160
. . . . . . g.87355
cgcctatagtcccagctacacaggaggctgaggcaggagaatcacttgaacccgggaagc c.*5220
. . . . . . g.87415
agagtctgcagtgagccaagatcgcggcattgcacttcagcctgggcgatagagcaagac c.*5280
. . . . . . g.87475
tctgtctcagaaaaaaaaaaaaaggaaagaaagaaatctctgcttccgtactatcaaaac c.*5340
. . . . . . g.87535
ttctaccctagaataccccctggcaccttctaacccaacctaatacagagattttgtagg c.*5400
. . . . . . g.87595
gacccattaacaagctcctatataattataagcagctctcacagtagggttgaaagagaa c.*5460
. . . . . . g.87655
tataaggaaaattagaagtactgtatttttgctattggaaatgaaatattgtttcatgca c.*5520
. . . . . . g.87715
cctttgaaaaaaataacaggattttacagccttctgatgattcattcaaagcatggggaa c.*5580
. . . . . . g.87775
tagttcatatgtttgttaaatgaaaatcttatgtagctatttgtgtgtccctcccacttc c.*5640
. . . . . . g.87835
ataactacaaaaacatatatatgaatttctaaacaaagtgatattttaaagatgaattga c.*5700
. . . . . . g.87895
ttcaatgtgtacttaccagtttactgtgtggttttatcttcaggtacagatagtttgtgg c.*5760
. . . . . . g.87955
tactacttgaaaatacctttaatattattttcatcagaatttgtaatatataatccagtt c.*5820
. . . g.87989
tgggatgatgaataaaatttttctaatctcttga c.*5854
(downstream sequence)
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