RGD:156067207 Rat Genome Database

RGD:156067207 Rat Genome Database

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Variant: RGD:156067207 - Homo sapiens

RGD ID:

156067207

ClinVar ID:

CV2147755

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	14	73,659,353
GRCh38	14	73,192,645

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_224:g.61175G>A NC_000014.8:g.73659353G>A LRG_224p1:p.Glu184Lys NP_015557.2:p.Glu180Lys More...	03/10/2022	missense variant	uncertain significance	Acne inversa, familial, 3; Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3; Dementia with lobar atrophy and neuronal cytoplasmic inclusions; Dementia, frontotemporal, with or without parkinsonism; Frontotemporal dementia; FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM; FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS; FRONTOTEMPORAL LOBE DEMENTIA; Frontotemporal lobe dementia (FLDEM); FTLD WITH TAU INCLUSIONS; LOBAR ATROPHY OF BRAIN; Lobar atrophy of the brain; Multiple system tauopathy with presenile dementia; Pick disease; PICK DISEASE OF BRAIN; Pick Disease of the Brain; Pick's disease; WILHELMSEN-LYNCH DISEASE

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2147755	Human	Alzheimer's disease 3		IAGP		8554872	ClinVar Annotator: match by term: Alzheimer disease 3	ClinVar	PMID:12552037 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2147755	Human	Frontotemporal dementia		IAGP		8554872	ClinVar Annotator: match by term: Frontotemporal dementia	ClinVar	PMID:12552037 more ...

Gene Symbol:	PSEN1
Accession:	XM_005267864
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	184

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAK HVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYK VIHAWLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAEST ERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATA SGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

Gene Symbol:	PSEN1
Accession:	XM_011536974
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	180

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIM LFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHA WLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKYLPEW TAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAESTERES QDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDW NTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

Gene Symbol:	PSEN1
Accession:	XM_047431602
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	180

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIM LFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHA WLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKYLPEW TAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAESTERES QDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDW NTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

Gene Symbol:	PSEN1
Accession:	XM_011536973
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	180

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIM LFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHA WLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKYLPEW TAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAESTERES QDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDW NTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

Gene Symbol:	PSEN1
Accession:	XM_005267866
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	180

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIM LFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHA WLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKYLPEW TAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAESTERES QDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDW NTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

Gene Symbol:	PSEN1
Accession:	XM_011536972
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	184

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAK HVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYK VIHAWLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAEST ERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATA SGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

Gene Symbol:	PSEN1
Accession:	NM_007318
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	180

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIM LFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHA WLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKYLPEW TAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAESTERES QDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDW NTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

Gene Symbol:	PSEN1
Accession:	XM_047431601
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	184

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAK HVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYK VIHAWLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAEST ERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATA SGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

Gene Symbol:	PSEN1
Accession:	NM_000021
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	184

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAK HVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYK VIHAWLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAEST ERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATA SGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

Gene Symbol:	PSEN1
Accession:	XM_047431600
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	184

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSRQVVEQDEEEDEELTLKYGAK HVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYK VIHAWLIISSLLLLFFFSFIYLGKVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAEST ERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATA SGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI*

ClinVar GRCh37	ClinVar GRCh38

PMID:9292884	PMID:12552037	PMID:28323683	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003037455	CLINVAR
MedGen	C1843013	CLINVAR
NCBI Gene	PSEN1	CLINVAR
OMIM	104311	CLINVAR
	172700	CLINVAR
	600274	CLINVAR
	607822	CLINVAR
	613737	CLINVAR
SNOMED CT	230270009	CLINVAR