PARK2 ex8-9del (breakpoints not mapped) Mutation Details

(Table Legend)

Gene

PARK2

Name

(relative to nt1 in Reverse Complement of NT_025741.15 Region: 7901234..9288478)
(relative to nt1 in NG_008289.1)

Alias

ex8-9del (breakpoints not mapped)

Description

Genomic deletion containing exon 8 to 9 resulting in out-frame skipping of exon 8 to 9

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(872-?)_(1083+?)del

p.A291VfsX8

Region

EX8-9

CDS

ring1-IBR

Notes

WARNING!!: This record groups all families with a PARK2 exon 8 to 9 deletion of which the breakpoints in intron 7 and intron 9 are undetermined.
These deletions in different families could all be of differing length and/or be independent events.

Phenotype

Mean of Mean Onset Ages: 30.5y

Frequency

6 Families

Function

No Functional data available

Citations

Lücking CB, Lancet 352: 1355-6, 1998
Tassin J, Brain 123: 1112-21, 2000
Hoenicka J, Arch Neurol 59: 966-70, 2002
Nichols WC, J Med Genet 39: 489-92, 2002
Foroud T, Neurology 60: 796-801, 2003
Madegowda RH, J Neurol Neurosurg Psychiatry 76: 1588-90, 2005
Lohmann E, Neurology 72: 110-6, 2009
Pankratz N, Neurology 73: 279-86, 2009

Citation Details

Added: June 29, 2009

ID: 163