PARK2 ex2-4del (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

ex2-4del (breakpoints not mapped)

Description

Genomic deletion containing exon 2 to 4 resulting in out-frame skipping of exon 2 to 4

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(8-?)_(534+?)del

p.V3GfsX7

Region

EX2-4

CDS

UBL

Notes

WARNING!!: This record groups all families with a PARK2 exon 2 to 4 deletion of which the breakpoints in intron 1 and intron 4 are undetermined.
These deletions in different families could all be of differing length and/or be independent events.

Phenotype

Mean of Mean Onset Ages: 24.9y

Frequency

10 Families

Function

No Functional data available

Citations

Maruyama M, Ann Neurol 48: 245-50, 2000
Nichols WC, J Med Genet 39: 489-92, 2002
Periquet M, Brain 126: 1271-8, 2003
De Rosa A, J Neurol 253: 275-9, 2006
Hertz JM, Eur J Neurol 13: 385-90, 2006
Sun M, Arch Neurol 63: 826-32, 2006
Shadrina MI, BMC Med Genet 8: , 2007
Amboni M, Mov Disord 24: 303-5, 2009

Citation Details

Added: July 1, 2009

ID: 167