Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 InsR352 Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.63786_63787insTCG (relative to Met1 in AF109907.1)
g.80398_80399insTCG (relative to nt1 in NG_007386.2)

Alias

InsR352

Description

Insertion of 3 nucleotides in coding region predicting an insertion of R between amino acids R352 and S353

Codon Change

From CGC.TCT to CGT.CGC.TCT

dbSNP ID

rs63750762

Details

Genomic

cDNA

Protein

Observed

c.1055_1056insTCG

Predicted

g.63786_63787insTCG

p.R352_S353insR

Region

EX10

CDS

HL-VI b

Notes

Observed in a patient also carrying the GRN IVS2+1G>A mutation.

Phenotype

Frontotemporal Dementia (Pathogenic nature unclear)

Frequency

Families

Function

No Functional data available

Citations

Rogaeva EA, Neurology 57: 621-625, 2001
Tang-Wai D, Dementia and Geriatric Cognitive Disorders 14: 13-21, 2002
Amtul Z, Neurobiology of Disease 9: 269-273, 2002
Pickering-Brown SM, Brain 129: 3124-3216, 2006

Citation Details

Added: March 7, 2002
Last Modified: November 24, 2006

ID: 127



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