SPG11
Gene name: spastic paraplegia 11OMIM ID: 610844
Chromosome location: 15q13-15
Mutations
| Disease/Phenotype | Spastic paraplegia 11, autosomal recessive |
|---|---|
| Reference transcript | NM_025137.3 |
| DNA Change | c.6100C>T |
| A.A. Change | p.Arg2034X |
| Exon/Intron | exon 32 |
| Mutation Type | substitution |
| Reference | Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, et al,Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat. 2009 Mar;30(3):E500-19. |