PARK2 ex2del (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

ex2del (breakpoints not mapped)

Description

Genomic deletion containing exon 2 resulting in out-frame skipping of exon 2

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(8-?)_(171+?)del

p.V3EfsX3

Region

EX2

CDS

UBL

Notes

WARNING!!: This record groups all families with a PARK2 exon 2 deletion of which the breakpoints in intron 1 and intron 2 are undetermined.
These deletions in different families could all be of differing length and/or be independent events.

Phenotype

Mean of Mean Onset Ages: 33.3y

Frequency

31 Families

Function

No Functional data available

Citations

Hedrich K, Hum Mol Genet 10: 1649-56, 2001
Hedrich K, Neurology 58: 1239-46, 2002
Kann M, Ann Neurol 51: 621-5, 2002
Periquet M, Brain 126: 1271-8, 2003
Poorkaj P, Am J Med Genet A 129A: 44-50, 2004
Wang T, Chin Med J 117: 1567-9, 2004
Wu RM, Arch Neurol 62: 82-7, 2005
Poorkaj P, BMC Neurol 5: , 2005
Bertoli-Avella AM, Mov Disord 20: 424-31, 2005
Shyu WC, Parkinsonism Relat Disord 11: 173-80, 2005
De Rosa A, J Neurol 253: 275-9, 2006
Chaudhary S, Parkinsonism Relat Disord 12: 239-45, 2006
Sun M, Arch Neurol 63: 826-32, 2006
Chung EJ, Arch Neurol 63: 1170-4, 2006
Scarciolla O, Mov Disord 22: 2274-8, 2007
Lesage S, J Med Genet 45: 43-6, 2008
Bras J, BMC Neurol 8: , 2008
Simon-Sanchez J, Hum Mutat 29: 315-22, 2008
Wang Y, Arch Neurol 65: 467-74, 2008
Choi JM, Neurogenetics 9: 263-9, 2008
Guo JF, Mov Disord 23: 2074-9, 2008
Wickremaratchi MM, Mov Disord 24: 138-40, 2009
Pankratz N, Neurology 73: 279-86, 2009
Guo JF, J Neurol Epub: , 2010

Citation Details

Added: July 2, 2009

ID: 177