Variant: rs1553316816 

    present in Gene: SPAST
    present in Chromosome: 2
    Position on Chromosome: 32126982
    Alleles of this Variant: T/A;G

rs1553316816 in SPAST gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs1553316816 in SPAST gene and Spastic paraplegia 4, autosomal dominant PMID 11087788 2000 Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.

PMID 12124993 2002 Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

PMID 12161613 2002 Spastin gene mutation in Japanese with hereditary spastic paraplegia.

PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PMID 11015453 2000 Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

PMID 11985387 2002 Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

PMID 10610178 1999 Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

PMID 11809724 2002 Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.

PMID 12202986 2002 A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.

PMID 16682546 2006 Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

PMID 24824479 2014 Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

PMID 11309678 2001 Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

PMID 16339213 2006 Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

PMID 15159500 2004 A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.

PMID 14732620 2004 Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

PMID 17594340 2007 Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.

PMID 11843700 2002 Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

PMID 15891913 2005 Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

PMID 23279441 2013 First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

PMID 12552568 2003 Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.