Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 InsFI Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25669_25670insTTATAT (relative to Met1 in AF109907.1)
g.42223_42224insTTATAT (relative to nt1 in NG_007386.2)

Alias

InsFI

Description

Insertion of 6 nucleotides in coding region predicting an insertion of FI between amino acids K155 and Y156

Codon Change

From TAC to TTT.ATA.TAC

dbSNP ID

rs63750631

Details

Genomic

cDNA

Protein

Observed

c.466_467insTTATAT

Predicted

g.25669_25670insTTATAT

p.K155_Y156insFI

Region

EX5

CDS

HL-II

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 28.0y
Mean of Mean Ages at Death: 35.0y

Frequency

2 Families

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001
Moretti P, Neurology 62: 1865-1868, 2004

Citation Details

Added: September 11, 2001

ID: 109



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