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, V�ri�pe 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, Dupr� 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, V�ri�pe 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, Dupr� 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. |