 |
 |
|||||||||||||||||||
|
||||||||||||||||||||
 |
 |
PINK1 Arg98Trp Mutation Details |
|||||
 |
|||||
Gene |
|||||
Name |
g.155647C>T (relative to nt1 in AL391357.20) |
||||
Alias |
Arg98Trp |
||||
Description |
Point mutation in coding region predicting an amino acid substitution |
||||
From CGG to TGG |
|||||
Genomic |
cDNA |
Protein |
|||
Observed |
g.155647C>T |
||||
Predicted |
c.292C>T |
p.R98W |
|||
Region |
EX1 |
CDS |
TM |
||
 | |||||
Phenotype |
(Pathogenic nature unclear)
|
||||
| |||||
Frequency |
|||||
| |||||
Function |
No Functional data available |
||||
| |||||
|
Citations |
Marongiu R, Hum Mutat 29: 565, 2008 |
||||
| |||||
|
Added: February 19, 2010 |
ID: 514 |
||||
Note! When using PDmutDB, please consult the How To Cite page for information on how to cite PDmutDB in your publication.
|
Top | Back | PDmutDB Home |