RGD:11636432 Rat Genome Database

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Variant: RGD:11636432 -  Homo sapiens

RGD ID: 11636432
RS ID: rs752358445
ClinVar ID: CV274839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FKTN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 108,397,429
GRCh38 9 105,635,148
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001079802.1:c.1270G>A
LRG_434t1:c.1270G>A
LRG_434t2:c.1270G>A
NM_006731.2:c.1270G>A
More...
03/23/2023 3 prime utr variant|missense variant pathogenic|likely pathogenic|uncertain significance CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS; CARDIOMYOPATHY, FAMILIAL DILATED, 1; FKTN-Related Dilated Cardiomyopathy; HARD syndrome; Hypokinetic dilated cardiomyopathy, familial; Muscular dystrophy-dystroglycanopathy, type A; none provided; Walker-Warburg syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FKTN
Accession:XM_006717014
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_011518391
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001351498
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422971
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422986
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422999
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422985
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422987
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047423001
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422984
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422998
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422972
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047422990
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047423002
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:XM_047423000
Location:3UTRS;EXON

Gene Symbol:FKTN
Accession:NM_001079802
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:NM_006731
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:NM_001351502
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPG
AFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLG
VPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYE
ETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPIS
EWDEVIQLY*

Gene Symbol:FKTN
Accession:NM_001351497
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 401
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILEVGENNGFFSKSLLPRYASKKLKSSLPHSRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKF
FCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNY
LWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYL
DDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLK
HKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANY
SKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:NM_001351499
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPG
AFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLG
VPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYE
ETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPIS
EWDEVIQLY*

Gene Symbol:FKTN
Accession:NM_001351496
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:NM_001351500
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPG
AFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLG
VPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYE
ETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPIS
EWDEVIQLY*

Gene Symbol:FKTN
Accession:NM_001351501
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPG
AFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLG
VPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYE
ETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPIS
EWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422979
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422974
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422978
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422975
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422977
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422991
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMK
VHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422993
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMK
VHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422976
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422980
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422973
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDL
GIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLC
WTEFVDMKVHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422992
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLIL
ELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPL
HYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMK
VHVPCETLEYIEANYSKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:XM_047422981
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 401
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILEVGENNGFFSKSLLPRYASKKLKSSLPHSRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKF
FCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNY
LWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYL
DDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLK
HKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANY
SKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY*

Gene Symbol:FKTN
Accession:NR_147213
Location:EXON;NON-CODING

Gene Symbol:FKTN
Accession:NR_147214
Location:EXON;NON-CODING

Gene Symbol:FKTN
Accession:NM_001198963
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518368
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518373
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518374
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518369
Location:INTRON

Gene Symbol:FKTN
Accession:XM_011518379
Location:INTRON

Gene Symbol:FKTN
Accession:XM_017014475
Location:INTRON

Gene Symbol:FKTN
Accession:XM_017014462
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422969
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422967
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422970
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422988
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422989
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422996
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422994
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422995
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422997
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422968
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422983
Location:INTRON

Gene Symbol:FKTN
Accession:XM_047422982
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:32969603   PMID:33048919   PMID:34120883   PMID:35175440  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000267506 CLINVAR
  RCV000459192 CLINVAR
  RCV002222481 CLINVAR
  RCV003475923 CLINVAR
dbSNP (RS) rs752358445 CLINVAR
MedGen C0265221 CLINVAR
  C0340427 CLINVAR
  C1969024 CLINVAR
  C3661900 CLINVAR
NCBI Gene FKTN CLINVAR
OMIM 600884 CLINVAR
  607440 CLINVAR
  611615 CLINVAR
SNOMED CT 111504002 CLINVAR
  52029003 CLINVAR