Gene Locus : human-SPG21
Mode of mutation : Natural mutant
Disease : Mast Syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.A108P p.Ala108Pro c.447G>A. Two Japanese brothers with autosomal recessive SPG21. The patients had onset of gait disturbances in their fifties and sixties, much later than that reported by Cross and McKusick (1967) rs587777315
| Title : Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses - Ishiura_2014_J.Hum.Genet_59_163 |
| Author(s) : Ishiura H , Takahashi Y , Hayashi T , Saito K , Furuya H , Watanabe M , Murata M , Suzuki M , Sugiura A , Sawai S , Shibuya K , Ueda N , Ichikawa Y , Kanazawa I , Goto J , Tsuji S |
| Ref : J Hum Genet , 59 :163 , 2014 |
| Abstract : |
| PubMedSearch : Ishiura_2014_J.Hum.Genet_59_163 |
| PubMedID: 24451228 |
| Gene_locus related to this paper: human-SPG21 |