RGD:14351002 Rat Genome Database

Variant: RGD:14351002 - Homo sapiens

RGD ID:

14351002

RS ID:

rs748743403

ClinVar ID:

CV608857

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

AL008729.1 PHACTR1 TBC1D7

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	6	13,283,705
GRCh38	6	13,283,473

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001309241.1:p.Arg429Cys NP_001309242.1:p.Arg498Cys NM_001322313.2:c.1492C>T NM_001322310.2:c.1768C>T More...	05/04/2022	intron variant	pathogenic\|uncertain significance	AllHighlyPenetrant; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70

Disease Annotations Click to see Annotation Detail View

developmental and epileptic encephalopathy 70 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TBC1D7
Accession:	NM_001318809
Location:	3UTRS;INTRON

Gene Symbol:	PHACTR1
Accession:	XM_017010459
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	521

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTL AMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEE EDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEF KSTEMEVHELSRHLTRLVLRVFFFLFFPQVAIFISK*

Gene Symbol:	PHACTR1
Accession:	XM_005248934
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	590

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPVSEESPSASESGVLLSQDP SAKPVLLLPPKKPAAFPGDHEETPVKQLPLLKQPPALPPKPTTRIANHLTDPGAPVKLPCLPVKLSPPLPPKKVMICMPV GGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSE QRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYT SSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQE EKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELS RHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	NM_001322313
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	498

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSIS NEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPVSEESPSASESGVLLSQDPSAKPVLLLPPKK PAAFPGDHEETPVKQLPLLKQPPALPPKPTTRIANHLTDPGAPVKLPCLPVKLSPPLPPKKVMICMPVGGPDLSLVSYTA QKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSS GLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCRKDS LAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQEEKREIKRRLTRK LSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELSRHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	NM_001242648
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	521

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTL AMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEE EDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEF KSTEMEVHELSRHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	NM_001374581
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	521

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTL AMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEE EDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEF KSTEMEVHELSRHLTRLVLRVFFFLFFPQVAIFISK*

Gene Symbol:	PHACTR1
Accession:	NM_001322308
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	521

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTL AMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEE EDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEF KSTEMEVHELSRHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	NM_001374583
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	429

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSIS NEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPLPPKKVMICMPVG GPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSEQ RVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTS SLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQEE KREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELSR HLTRLVLRVFFFLFFPQVAIFISK*

Gene Symbol:	PHACTR1
Accession:	NM_001322309
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	521

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTL AMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEE EDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEF KSTEMEVHELSRHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	NM_001322310
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	590

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPVSEESPSASESGVLLSQDP SAKPVLLLPPKKPAAFPGDHEETPVKQLPLLKQPPALPPKPTTRIANHLTDPGAPVKLPCLPVKLSPPLPPKKVMICMPV GGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSE QRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYT SSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQE EKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELS RHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	NM_001322311
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	429

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSIS NEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPLPPKKVMICMPVG GPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSEQ RVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTS SLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQEE KREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELSR HLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	NM_001322314
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	591

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEPTRSAKPGRFALRSPRCREGAVPGASAEKPKKKAFYLLRMKPLKEPAPNNNNNVSFVIHCQLGKEIKHICSNCSRGE DARDAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVL KEIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPVSEESPSASESGVLLSQD PSAKPVLLLPPKKPAAFPGDHEETPVKQLPLLKQPPALPPKPTTRIANHLTDPGAPVKLPCLPVKLSPPLPPKKVMICMP VGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESS EQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLY TSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQ EEKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHEL SRHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	XM_017010464
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	522

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEPTRSAKPGRFALRSPRCREGAVPGASAEKPKKKAFYLLRMKPLKEPAPNNNNNVSFVIHCQLGKEIKHICSNCSRGE DARDAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVL KEIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPP LPPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKT LAMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEE EEDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRN ILKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNE FKSTEMEVHELSRHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	XM_047418373
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	590

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPVSEESPSASESGVLLSQDP SAKPVLLLPPKKPAAFPGDHEETPVKQLPLLKQPPALPPKPTTRIANHLTDPGAPVKLPCLPVKLSPPLPPKKVMICMPV GGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSE QRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYT SSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQE EKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELS RHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	XM_047418374
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	590

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPVSEESPSASESGVLLSQDP SAKPVLLLPPKKPAAFPGDHEETPVKQLPLLKQPPALPPKPTTRIANHLTDPGAPVKLPCLPVKLSPPLPPKKVMICMPV GGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSE QRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYT SSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQE EKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELS RHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	XM_017010458
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	522

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEPTRSAKPGRFALRSPRCREGAVPGASAEKPKKKAFYLLRMKPLKEPAPNNNNNVSFVIHCQLGKEIKHICSNCSRGE DARDAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVL KEIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPP LPPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKT LAMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEE EEDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRN ILKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNE FKSTEMEVHELSRHLTRLVLRVFFFLFFPQVAIFISK*

Gene Symbol:	PHACTR1
Accession:	NM_030948
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	521

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTL AMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEE EDEDDDSSLYTSSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEF KSTEMEVHELSRHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	XM_047418372
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	590

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPIRRVRSKSDTPYLAEARISFN LGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLK EIYDKDGELSISNEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPVSEESPSASESGVLLSQDP SAKPVLLLPPKKPAAFPGDHEETPVKQLPLLKQPPALPPKPTTRIANHLTDPGAPVKLPCLPVKLSPPLPPKKVMICMPV GGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSE QRVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYT SSLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQE EKREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELS RHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	XM_047418375
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	498

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSIS NEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPVSEESPSASESGVLLSQDPSAKPVLLLPPKK PAAFPGDHEETPVKQLPLLKQPPALPPKPTTRIANHLTDPGAPVKLPCLPVKLSPPLPPKKVMICMPVGGPDLSLVSYTA QKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSS GLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCRKDS LAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQEEKREIKRRLTRK LSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELSRHLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	NM_001322312
Location:	EXON
Amino Acid Prediction:	R to S (nonsynonymous)
Amino Acid Position:	429

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSDSLVPGTHTPPIRRRSKFANLGRIFKPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSIS NEEDSLENGQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPLPPKKVMICMPVG GPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTTGSLPMHPSGCRMIDELNKTLAMTMQRLESSEQ RVPCSTSYHSSGLHSGDGVTKAGPMGLPEIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTS SLAMKVCRKDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNILKPRNEQEEQEE KREIKRRLTRKLSQRPTVEELRERKILISFSDYVEVADAQDYDRRADKPWTRLTAADKAAIRKELNEFKSTEMEVHELSR HLTRFHRP*

Gene Symbol:	PHACTR1
Accession:	NM_001374584
Location:	INTRON

Gene Symbol:	PHACTR1
Accession:	NM_001374582
Location:	INTRON

Gene Symbol:	TBC1D7
Accession:	NR_134872
Location:	INTRON;NON-CODING

Gene Symbol:	AL008729.1
Accession:	NR_134859
Location:	INTRON;NON-CODING

Gene Symbol:	AL008729.1
Accession:	NR_160971
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:23033978	PMID:30256902

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000754622	CLINVAR
	RCV002249452	CLINVAR
dbSNP (RS)	rs748743403	CLINVAR
MedGen	C4749023	CLINVAR
	CN169374	CLINVAR
NCBI Gene	100130357	CLINVAR
	107080638	CLINVAR
	PHACTR1	CLINVAR
OMIM	608723	CLINVAR
	618298	CLINVAR
OMIM Allele	608723.0001	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:14351002 - Homo sapiens

Imported Disease Annotations - ClinVar