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

Spastic paraplegia 76, autosomal recessive

OMIM:616907
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolCAPN1
Reference transcriptNM_005186.3
DNA Changec.884G>C
A.A. Changep.Arg295Pro
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceGan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuck A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Bencheikh BO. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet. 2016 May 5;98(5):1038-46. doi: 10.1016/j.ajhg.2016.04.002.
Gene SymbolCAPN1
Reference transcriptNM_005186.3
DNA Changec.1579C>T
A.A. Changep.Gln527*
Exon/Intronexon 14
Mutation Typeothers
ReferenceGan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuck A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Bencheikh BO. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet. 2016 May 5;98(5):1038-46. doi: 10.1016/j.ajhg.2016.04.002.