RGD:405260320 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:405260320 -  Homo sapiens

RGD ID: 405260320
ClinVar ID: CV3209142
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBRSL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 133,146,665
GRCh38 12 132,570,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NP_001369669.1:p.Arg282His
NM_001142641.2:c.845G>A
NM_001367871.1:c.845G>A
NM_001382739.1:c.845G>A
More...
03/20/2023 missense variant likely benign FBRSL1-related condition

Gene Symbol:FBRSL1
Accession:XM_011534804
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLPG
HPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQH
TFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSAEGGVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPFG
SLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAK
LDLFGRPPAPGVFAGFHYPQDLARPLFPSTGHAREWEVKVHRGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPASN
PFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPS
FPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAE
PRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLE
LPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALH
NGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:NM_001367871
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIGTWSQAPLLPAPLGPHVASGHPGLACRPRECQFDKYAPKLDSPYFRHSSVSFF
PSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIY
RHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGAAHPASNPFGPSAHPGSFLPTGPLTDPF
SRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTN
HDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARA
SPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEP
PERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLV
TAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_005266176
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIGTWSQAPLLPAPLGPHVASGHPGLACRPRECQFDKYAPKLDSPYFRHSSVSFF
PSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIY
RHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGHAREWEVKVHRGNWGAPCEQSCRWEALV
LSPGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGS
SVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSG
LLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQL
GLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALD
GALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPE
VEAR*

Gene Symbol:FBRSL1
Accession:XM_005266177
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQ
HTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVAR
RAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHY
PQDLARPLFPSTGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSS
VHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGL
LLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLG
LGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDG
ALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEV
EAR*

Gene Symbol:FBRSL1
Accession:XM_011534807
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIGTWSQAPLLPAPLGPHVASGHPGLACRPRECQFDKYAPKLDSPYFRHSSVSAE
GGVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAV
VKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGHAREWEVKV
HRGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGG
LGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEK
TRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERG
EDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLR
GELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPL
GGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_011534809
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIGTWSQAPLLPAPLGPHVASGHPGLACRPRECQFDKYAPKLDSPYFRHSSFFPS
FPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRH
QQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGHAREWEVKVHRGNWGAPCEQSCRWEALVLS
PGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSV
HGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLL
LRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGL
GRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGA
LLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVE
AR*

Gene Symbol:FBRSL1
Accession:XM_047429220
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQ
HTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSAEGGVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPF
GSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGA
KLDLFGRPPAPGVFAGFHYPQDLARPLFPSTETCSLDPCGGRPLTNSTESPAAAPPRARAQAPHGCSPRVVGGPGLMLTW
CCGLGLCPGMPQGAAMCSLQDRTVSIQA*

Gene Symbol:FBRSL1
Accession:XM_011534812
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQPSKQMKVTVSKGGDRDSDDD
SVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAKAGPVPKVSGLERSRELSAE
SFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGAFAGHSQAAANGLHGLSRSS
SAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLPGHPADASLAVSFSQPIMYC
QPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQHTFAPFPAGLPPTPPAAPP
PFDKYAPKLDSPYFRHSSVSAEGGVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVAR
RAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHY
PQDLARPLFPSTGHAREWEVKVHRGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLT
DPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSA
LTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMP
ARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAAL
LEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPP
PLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_005266171
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQ
HTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVAR
RAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHY
PQDLARPLFPSTGHAREWEVKVHRGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLT
DPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSA
LTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMP
ARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAAL
LEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPP
PLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_005266173
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQ
HTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVARRA
GAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQ
DLARPLFPSTGHAREWEVKVHRGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLTDP
FSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALT
NHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPAR
ASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLE
PPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPL
VTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_011534810
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQ
HTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSAEGGVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPF
GSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGA
KLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGAAHPASNPFGPSAHPGSFLPTGPLTAPGGSIFAPKEGSSVHGLPSPHE
AWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELG
RSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAP
GFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGAL
HFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_011534805
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQHTFAPFPAGLPPTPPAAPPPFDK
YAPKLDSPYFRHSSVSAEGGVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVARRAGA
VHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDL
ARPLFPSTGHAREWEVKVHRGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLTDPFS
RPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNH
DREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARAS
PPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPP
ERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVT
AAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:NM_001382739
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQHTFAPFPAGLPPTPPAAPPPFDK
YAPKLDSPYFRHSSVSFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVV
KKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGAAHPASNPFG
PSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPA
PPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRV
KESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPR
RAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGL
LARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_005266175
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQ
HTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKVSDPYRAVV
KKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGHAREWEVKVH
RGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGL
GSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKT
RLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGE
DEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRG
ELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLG
GLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_011534803
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQ
HTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSAEGGVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPF
GSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGA
KLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGHAREWEVKVHRGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPAS
NPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPP
SFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREA
EPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGL
ELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAAL
HNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_047429219
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLPG
HPADASLAVSFSQPIMYCQPHSGILIGTWSQAPLLPAPLGPHVASGHPGLACRPRECQFDKYAPKLDSPYFRHSSVSAEG
GVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVV
KKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGHAREWEVKVH
RGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGL
GSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKT
RLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGE
DEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRG
ELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLG
GLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:NM_001142641
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQHTFAPFPAGLPPTPPAAPPPFDK
YAPKLDSPYFRHSSVSFFPSFPPAIPGLPTLLPHPGPFGSLQGAFQPKVSDPYRAVVKVSTCWEGPWQGRTLVPPGRPRG
ARDSRSLQKTWVGVAPAPLSASILSQKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGF
HYPQDLARPLFPSTGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEG
SSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVS
GLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQ
LGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPAL
DGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPP
EVEAR*

Gene Symbol:FBRSL1
Accession:XM_011534806
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQ
HTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSAEGGVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPF
GSLQGAFQPKVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGAKLDLFGRPPAPGVFAGFHYPQDL
ARPLFPSTGHAREWEVKVHRGNWGAPCEQSCRWEALVLSPGFCQTWLPPPGAAHPASNPFGPSAHPGSFLPTGPLTDPFS
RPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNH
DREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARAS
PPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPP
ERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVT
AAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:XM_011534808
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPADASLAVSFSQPIMYCQPHSGILIDHELLRQELNTRFLVQSAERPGASLGPGALLRAEFHQHQHTHQHTHQHTHQHQ
HTFAPFPAGLPPTPPAAPPPFDKYAPKLDSPYFRHSSVSAEGGVRTWAPPPSALLLLQFFPSFPPAIPGLPTLLPHPGPF
GSLQGAFQPKTSSPIEVARRAGAVHTLLQKAPGVSDPYRAVVKKPGRWCAVHVQIAWQIYRHQQKIKEMQLDPHKLEVGA
KLDLFGRPPAPGVFAGFHYPQDLARPLFPSTGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGL
GSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKT
RLLSRASPATPAGHPVSGLLLRAQSELGRSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGE
DEASEPPAGGLHPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRG
ELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLG
GLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:NM_001382740
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGKENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEE
VIDGFAIASFSTLEALEKDMALKPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASVGSEKLFAPGTDKGPALEKSEAK
AGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPGPPPGSHANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGA
FAGHSQAAANGLHGLSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPALPASSLVLP
GHPAGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAFGGLGSHALAPGGSIFAPKEGSSVHGLPSPH
EAWNRLHRAPPSFPAPPPWPKSVDAERVSALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSEL
GRSGAPAEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGLHPAPLQLGLGRERLGA
PGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDREPHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGA
LHFPRLSPAALHNGLLARTPPAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR*

Gene Symbol:FBRSL1
Accession:NM_001382743
Location:INTRON

Gene Symbol:FBRSL1
Accession:NM_001382742
Location:INTRON

Gene Symbol:FBRSL1
Accession:NM_001382741
Location:INTRON

Gene Symbol:FBRSL1
Accession:NR_168498
Location:INTRON;NON-CODING

.


Database
Acc Id
Source(s)
ClinVar RCV003943847 CLINVAR
NCBI Gene FBRSL1 CLINVAR
OMIM 620123 CLINVAR