SPG7
Gene name: spastic paraplegia 7 (pure and complicated autosomal recessive)OMIM ID: 602783
Chromosome location: 16q24.3
Mutations
| Disease/Phenotype | Spastic paraplegia 7, autosomal recessive |
|---|---|
| Reference transcript | NM_003119.2 |
| DNA Change | c.1742_1744delTGG |
| A.A. Change | p.Val581del |
| Exon/Intron | exon 13 |
| Mutation Type | deletion |
| Reference | Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology. 2006 Mar 14;66(5):654-9. |
| Disease/Phenotype | Spastic paraplegia 7, autosomal recessive |
|---|---|
| Reference transcript | NM_003119.2 |
| DNA Change | c.850_851delTTinsC |
| A.A. Change | Frameshift and premature protein truncation |
| Exon/Intron | exon 6 |
| Mutation Type | insertion |
| Reference | Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology. 2006 Mar 14;66(5):654-9. |