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

CAPN1

Gene name: calpain 1
OMIM ID: 114220
Chromosome location: 11q13.1

Mutations

Disease/PhenotypeSpastic paraplegia 76, autosomal recessive
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.

Disease/PhenotypeSpastic paraplegia 76, autosomal recessive
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.