PSEN1 Δ9 Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.56305_62162del (relative to Met1 in AF109907.1)
g.72916_78773del (relative to nt1 in NG_007386.2)

Alias

Δ9

Description

5858 bp genomic deletion containing exon 9 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

g.56305_62162del

c.869_955del

Predicted

p.[S290C;T291_S319del]

Region

IVS8-IVS9

CDS

HL-VI (MA)

Phenotype

Alzheimer Disease / Spastic Paraparesis
Mean of Mean Onset Ages: 45.5y
Mean of Mean Ages at Death: 51.2y

Frequency

1 Family

Function

Summary table showing mean of (n) reports

Function Details

Citations

Kwok JB, Neuroreport 8: 1537-1542, 1997
Kwok JBJ, Neurobiology of Aging 21 Supp1: S25, 2000
Smith MJ, Annals of Neurology 49: 125-129, 2001
Halliday GM, Annals of Neurology 57: 139-143, 2005

Citation Details

Added: July 25, 2000
Last Modified: July 31, 2009

ID: 98