Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PDYN

Gene name: prodynorphin
OMIM ID: 131340
Chromosome location: 20p13

Mutations

Disease/PhenotypeSpinocerebellar ataxia 23
Reference transcriptNM_024411.4
DNA Changec.680G>A
A.A. Changep.Gly227Asp
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceJezierska J, Stevanin G, Watanabe H, Fokkens MR, Zagnoli F, Kok J, Goas JY, Bertrand P, Robin C, Brice A, Bakalkin G, Durr A, Verbeek DS.Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.
J Neurol. 2013 Mar 8. [Epub ahead of print]