PARK2 ex6del (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

ex6del (breakpoints not mapped)

Description

Genomic deletion containing exon 6 resulting in out-frame skipping of exon 6

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(619-?)_(734+?)del

p.F208PfsX28

Region

EX6

CDS

ring1

Notes

WARNING!!: This record groups all families with a PARK2 exon 6 deletion of which the breakpoints in intron 5 and intron 6 are undetermined.
These deletions in different families could all be of differing length and/or be independent events.
Observed in 1 control individual.

Phenotype

Mean of Mean Onset Ages: 27.7y

Frequency

15 Families

Function

No Functional data available

Citations

Nichols WC, J Med Genet 39: 489-92, 2002
Foroud T, Neurology 60: 796-801, 2003
Rawal N, Neurology 60: 1378-81, 2003
Periquet M, Brain 126: 1271-8, 2003
Bertoli-Avella AM, Mov Disord 20: 424-31, 2005
Chaudhary S, Parkinsonism Relat Disord 12: 239-45, 2006
Simon-Sanchez J, Hum Mutat 29: 315-22, 2008
Moro E, Neurology 70: 1186-91, 2008
Chan DK, J Neural Transm 115: 715-9, 2008
Sironi F, Parkinsonism Relat Disord 14: 326-33, 2008
Nuytemans K, Hum Mutat Epub: , 2009
Pankratz N, Neurology 73: 279-86, 2009
Guo JF, J Neurol Epub: , 2010

Citation Details

Added: July 17, 2009

ID: 218