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PSEN1 ΔI83/M84 Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.22932_22937delATCATG (relative to Met1 in AF109907.1)
g.39486_39491delATCATG (relative to nt1 in NG_007386.2)

Alias

ΔI83/M84

Description

Hexanucleotide deletion resulting in deletion of 2 amino acids

Codon Change

From ATC.ATG to --- ---

dbSNP ID

rs63750307

Details

Genomic

cDNA

Protein

Observed

g.22932_22937del

c.247_252del

Predicted

p.I83_M84del

Region

EX4

CDS

TM-I

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 36.0y
Mean of Mean Ages at Death: 44.0y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

 

40

40/Aβ

42

42/Aβ

42/Aβ40

H4

 

 

 

 

2.6x ↑ (1)

HEK293

 

1.6x ↓ (1)

 

4.8x ↑ (1)

 

brain

33.8x ↑ (1)

 

11.3x ↑ (1)

 

3.0x ↓ (1)


Function Details

Citations

Houlden H, Annals of Neurology 48: 806-808, 2000
Steiner H, Journal of Biological Chemistry 276: 7233-7239, 2001

Citation Details

Added: January 11, 2001
Last Modified: October 20, 2008

ID: 103



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