Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Met233Leu Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.44716A>T (relative to Met1 in AF109907.1)
g.61322A>T (relative to nt1 in NG_007386.2)

Alias

Met233Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to TTG

dbSNP ID

rs63751287

Details

Genomic

cDNA

Protein

Observed

g.44716A>T

Predicted

c.697A>T

p.M233L

Region

EX7

CDS

TM-V

Pathogenecity

CADD (v1.2) score: phred = 21.9 ; raw = 2.36136
Guerreiro classification: Probable pathogenic

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 39.0y
Mean of Mean Ages at Death: 45.0y

Frequency

1 Family

Function

No Functional data available

Citations

Mendez MF, American Journal of Alzheimer's Disease & Other Dementias 21: 281-286, 2006

Citation Details

Added: August 2, 2007
Last Modified: December 14, 2015

ID: 369



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