RGD:13611223 Rat Genome Database

Variant: RGD:13611223 - Homo sapiens

RGD ID:

13611223

RS ID:

rs747398780

ClinVar ID:

CV518727

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

REEP1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	86,479,097
GRCh38	2	86,251,974

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
NM_001164732.2:c.182+11991G>A NM_001164731.2:c.319G>A LRG_713p2:p.Val134Met NG_013037.1:g.91110G>A More...	12/08/2017	intron variant	uncertain significance	Spastic paraplegia 31, autosomal dominant

Disease Annotations Click to see Annotation Detail View

hereditary spastic paraplegia 31 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	REEP1
Accession:	NM_001164730
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	141

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQKVLSNGQTEEVRSGSRLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFV AWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSM QDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA*

Gene Symbol:	REEP1
Accession:	XM_017004727
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	141

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVAMTPPRPCRRAQSHLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFV AWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSM QDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA*

Gene Symbol:	REEP1
Accession:	NM_001410856
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	134

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKGTA*

Gene Symbol:	REEP1
Accession:	XM_005264504
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDAL VHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSS VCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKAPRRMELPLEAPPRILRSRFRKKSTSS SATETT*

Gene Symbol:	REEP1
Accession:	XM_011533044
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCLLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSL LYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIRGDGAPA PSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDF MYKYKAPRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	134

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKGTA*

Gene Symbol:	REEP1
Accession:	XM_047445536
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCLLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSL LYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIRGDGAPA PSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA*

Gene Symbol:	REEP1
Accession:	XM_047445537
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDAL VHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSS VCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKAPRRMELPLEAPPRILRSRFRKKSTSS SATETT*

Gene Symbol:	REEP1
Accession:	XM_017004725
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	141

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVAMTPPRPCRRAQSHLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFV AWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSM QDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLD FMYKYKAPRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:	REEP1
Accession:	XM_017004726
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	141

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVAMTPPRPCRRAQSHLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFV AWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSM QDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKGTA*

Gene Symbol:	REEP1
Accession:	XM_011533045
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	126

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRRLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLY RKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPS GPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMY KYKAPRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	134

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKA PRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:	REEP1
Accession:	NM_001164731
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDHLQAGGVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCL VQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKM SRSASESASSSGTA*

Gene Symbol:	REEP1
Accession:	NM_001410855
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	134

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKA PRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:	REEP1
Accession:	NM_022912
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	134

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA*

Gene Symbol:	REEP1
Accession:	NM_001371280
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	134

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKAPPRILRSRFRKKSTSSSATE TT*

Gene Symbol:	REEP1
Accession:	NM_001371279
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	134

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAMMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEE EDLLDFMYKYKAPRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:	REEP1
Accession:	NM_001164732
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000641681	CLINVAR
dbSNP (RS)	rs747398780	CLINVAR
MedGen	C1853247	CLINVAR
NCBI Gene	REEP1	CLINVAR
OMIM	609139	CLINVAR
	610250	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:13611223 - Homo sapiens

Imported Disease Annotations - ClinVar