ALSoD: Amyotrophic Lateral Sclerosis Online Genetics Database

ALS ONLINE GENETICS DATABASE

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Gene	VAPB
Other names	ALS8; VAP-B; VAP-C; VAMP-B; VAMP-C:
Gene name	VAMP (vesicle-associated membrane protein)-associated protein B and C
Gene inheritance category	FALS genes
Category	ALTERED AXONAL TRANSPORT AND VESICLE TRAFFICKING
Chromosome	20q13.33
Background	Mutations in VAPB cause an autosomal dominant, slowly progressive ALS (ALS8)
Result	New familial gene, not yet tested in SALS.
Total Mutations	2
Total Affected	19

FALS	SALS	Male	Female	Bulbar	Limb	No data	Mean age onset	N
19	0	2	1	0	19	2	44	19

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First_Author	Year	Title	Paper
Chen	2010	Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis	Full_Paper
Conforti	2006	Sporadic ALS is not associated with VAPB gene mutations in Southern Italy	Full_Paper
Funke	2010	The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case	Full_Paper
Kirby	2007	Mutations in VAPB are not associated with sporadic ALS	Full_Paper
Landers	2008	New VAPB deletion variant and exclusion of VAPB mutations in familial ALS	Full_Paper
Marques	2006	Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia	Full_Paper
Millecamps	2010	SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations	Full_Paper
Nishimura	2004	A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis	Full_Paper
Nishimura	2004	A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13	Full_Paper

SNP (rs)	Basepair	Author	Year	Term	Paper
2234487		Conforti	2006	GRCh37	Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
2234488		Conforti	2006	GRCh37	Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
	56993374	Kirby	2007	GRCh37	Mutations in VAPB are not associated with sporadic ALS
	57016041	Kirby	2007	GRCh37	Mutations in VAPB are not associated with sporadic ALS
	56993374	Nishimura	2004	GRCh37	A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis