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

JPH3

Gene name: junctophilin 3
OMIM ID: 605268
Chromosome location: 16q24.2

Mutations

Disease/PhenotypeHuntington disease-like 2
DNA Change50 CAG/CTG repeat
A.A. Change
Exon/Intron
Mutation Typerepeat
ReferenceStevanin G, Camuzat A, Holmes SE, Julien C, Sahloul R, Dode C, Hahn-Barma V, Ross CA, Margolis RL, Durr A, Brice A.CAG/CTG repeat expansions at the Huntingtons disease-like 2 locus are rare in Huntingtons disease patients.
Neurology. 2002 Mar 26;58(6):965-7.
Disease/PhenotypeHuntington disease-like 2
DNA Change50 uninterrupted CTG repeats
A.A. Change
Exon/Intron
Mutation Typerepeat
ReferenceStevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A, Durr A.Huntingtons disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
Brain. 2003 Jul;126(Pt 7):1599-603.

  Variant not named according to HGVS recommendations