RGD:9480273 Rat Genome Database

Variant: RGD:9480273 - Homo sapiens

RGD ID:

9480273

RS ID:

rs527236091

ClinVar ID:

CV152784

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PDE6B

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	654,364
GRCh38	4	660,575

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	Age of Onset	Prevalence	Trait Synonyms
NG_009839.1:g.40002G>A NC_000004.12:g.660575G>A NC_000004.11:g.654364G>A NP_000274.2:p.Glu526Lys More...	08/26/2021	missense variant	likely pathogenic\|uncertain significance	adolescent\|childhood\|variable	1-5 / 10 000	none provided; Tapetoretinal degeneration

Disease Annotations Click to see Annotation Detail View

fundus dystrophy (IAGP)

retinitis pigmentosa (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Retinal dystrophy (IAGP)

Rod-cone dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PDE6B
Accession:	XM_047415775
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKCAPSG RGRLAGRAGSLGPPADTGAQRRHSPGDAAPDSVPARRPRAPRMGPRSGSAPPCRRALGAGSPHLLPPAPPLFPGFRKRAM FQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPM MDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPM GTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	NM_001350154
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMF QKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMM DRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPMG TLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	NM_001145292
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMF QKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMM DRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEI CNGGPAPKSSTCCIL*

Gene Symbol:	PDE6B
Accession:	XM_011513473
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	526

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRL QNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPMGTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	XM_047415773
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	526

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKCAPSGRGRLAGRAGSLGPPADTGAQRRHSPGDAAPDSVPARRPRAP RMGPRSGSAPPCRRALGAGSPHLLPPAPPLFPGFRKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDL SAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDR LQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEICNGGPAPKSSTCCIL*

Gene Symbol:	PDE6B
Accession:	NM_001379247
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMF QKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMM DRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEI CNGGPAPKSSTCCIL*

Gene Symbol:	PDE6B
Accession:	XM_047415774
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	526
TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKAQKFAMAAQHPSLQP AVSCEHWSHGDPMAPSIFTHDLGSACGYLLQEVRKPKKMTEDHSGYFNFFFFFFLRWSLALSPRLECRGTISAHCNLHL PGSSDSRASASVAGTTGAHHHTWLIFVFSVQMGFHHIGQAGLELLTSGDHPPQLPEVLGLQAATTPSLFLTEANCE TVAYITHPFLDSYHWETFEKGPTLKSLRTFAATHVHMCTQVDRWTQAVSHPVENTHAQEFRIK*TEN

Gene Symbol:	PDE6B
Accession:	XM_047415776
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKCAPSG RGRLAGRAGSLGPPADTGAQRRHSPGDAAPDSVPARRPRAPRMGPRSGSAPPCRRALGAGSPHLLPPAPPLFPGFRKRAM FQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPM MDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPM GTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	NM_001379246
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMF QKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMM DRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEI CNGGPAPKSSTCCIL*

Gene Symbol:	PDE6B
Accession:	NM_001350155
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	141

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQL ILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYKLGVVRKFQIPQEVLVRFLF SISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSIL ERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTR KEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKE FSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPMGTLWLPQSSPTRIWVLPVAICYKRLGS PRK*

Gene Symbol:	PDE6B
Accession:	NM_000283
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	526

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRL QNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEICNGGPAPKSSTCCIL*

Gene Symbol:	PDE6B
Accession:	XM_047415772
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	526

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKCAPSGRGRLAGRAGSLGPPADTGAQRRHSPGDAAPDSVPARRPRAP RMGPRSGSAPPCRRALGAGSPHLLPPAPPLFPGFRKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDL SAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDR LQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPMGTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	XM_047415777
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKCAPSG RGRLAGRAGSLGPPADTGAQRRHSPGDAAPDSVPARRPRAPRMGPRSGSAPPCRRALGAGSPHLLPPAPPLFPGFRKRAM FQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPM MDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPM GTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	NM_001145291
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	526

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYKLGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRL QNNRKEWKALADEYEAKVKALEEKEEEERVAAKKGTEICNGGPAPKSSTCCIL*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25324289	PMID:28492532	PMID:30718709

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000132574	CLINVAR
	RCV001857472	CLINVAR
	RCV003888537	CLINVAR
dbSNP (RS)	rs527236091	CLINVAR
MedGen	C0035334	CLINVAR
	C0854723	CLINVAR
	C3661900	CLINVAR
NCBI Gene	PDE6B	CLINVAR
OMIM	180072	CLINVAR
	268000	CLINVAR
SNOMED CT	28835009	CLINVAR
	314407005	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)

Variant: RGD:9480273 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:9480273 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar