PARK2 ex7del (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

ex7del (breakpoints not mapped)

Description

Genomic deletion containing exon 7 resulting in out-frame skipping of exon 7

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(735-?)_(871+?)del

p.R245SfsX9

Region

EX7

CDS

ring1

Notes

WARNING!!: This record groups all families with a PARK2 exon 7 deletion 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.

Phenotype

Mean of Mean Onset Ages: 35.7y - Mean of Mean Ages at Death: 73.2y

Frequency

17 Families

Function

No Functional data available

Citations

Klein C, Ann Neurol 48: 65-71, 2000
Hedrich K, Hum Mol Genet 10: 1649-56, 2001
Foroud T, Neurology 60: 796-801, 2003
Illarioshkin SN, Mov Disord 18: 914-9, 2003
Djarmati A, Hum Mutat 23: , 2004
Shyu WC, Parkinsonism Relat Disord 11: 173-80, 2005
Inzelberg R, Neurology 65: 1843, 2005
Adel S, Mov Disord 21: 258-63, 2006
Hertz JM, Eur J Neurol 13: 385-90, 2006
Chaudhary S, Parkinsonism Relat Disord 12: 239-45, 2006
Chung EJ, Arch Neurol 63: 1170-4, 2006
Chan DK, J Neural Transm 115: 715-9, 2008
Brüggemann N, Parkinsonism Relat Disord 15: 425-9, 2009

Citation Details

Added: June 29, 2009

ID: 164