Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN2 Thr122Pro Mutation Details

(Table Legend)

Gene

PSEN2

Name

g.3636A>C (relative to Met1 in U50871.1)
g.19974A>C (relative to nt1 in NG_007381.1)

Alias

Thr122Pro

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ACG to CCG

dbSNP ID

rs63749851

Details

Genomic

cDNA

Protein

Observed

g.3636A>C

Predicted

c.364A>C

p.T122P

Region

EX5

CDS

HL-I

Pathogenecity

CADD (v1.2) score: phred = 23.4 ; raw = 3.48174
Guerreiro classification:

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 47.9y
Mean of Mean Ages at Death: 63.9y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

 

40

42

42/Aβ40

PSEN1&2-/- APPsw MEF

2.8x ↓ (1)

2.9x ↑ (1)

8.3x ↑ (1)


Function Details

Citations

Finckh U, American Journal of human Genetics 66: 110-117, 2000
Finckh U, Neurogenetics 6: 85-89, 2005

Citation Details

Added: February 4, 2000
Last Modified: May 10, 2007

ID: 76



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