CAPN1
Gene name: calpain 1OMIM ID: 114220
Chromosome location: 11q13.1
Mutations
| Disease/Phenotype | Spastic paraplegia 76, autosomal recessive |
|---|---|
| Reference transcript | NM_005186.3 |
| DNA Change | c.1579C>T |
| A.A. Change | p.Gln527* |
| Exon/Intron | exon 14 |
| Mutation Type | others |
| Reference | Gan-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/Phenotype | Spastic paraplegia 76, autosomal recessive |
|---|---|
| Reference transcript | NM_005186.3 |
| DNA Change | c.884G>C |
| A.A. Change | p.Arg295Pro |
| Exon/Intron | exon 8 |
| Mutation Type | substitution |
| Reference | Gan-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. |