PARK2 ex7dup (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

ex7dup (breakpoints not mapped)

Description

Genomic duplication containing exon 7

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(735-?)_(871?)dup

p.?/p.A291GfsX14

Region

EX7

CDS

ring1

Notes

WARNING!!: This record groups all families with a PARK2 exon 7 duplication of which the breakpoints in intron 6 and intron 7 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: 33.0y

Frequency

5 Families

Function

No Functional data available

Citations

Pramstaller PP, Neurology 58: 808-10, 2002
Kann M, Ann Neurol 51: 621-5, 2002
Nichols WC, J Med Genet 39: 489-92, 2002
Foroud T, Neurology 60: 796-801, 2003
Simon-Sanchez J, Hum Mutat 29: 315-22, 2008
Macedo MG, Mov Disord 24: 196-203, 2009

Citation Details

Added: July 14, 2009

ID: 187