ALSoD: Amyotrophic Lateral Sclerosis Online Genetics Database

ALS ONLINE GENETICS DATABASE

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Gene	DCTN1
Other names	P135; HMN7B; DP-150; DAP-150
Gene name	dynactin 1 (p150, glued homolog, Drosophila)
Gene inheritance category	FALS genes found in SALS
Category	ALTERED AXONAL TRANSPORT AND VESICLE TRAFFICKING
Chromosome	2p13
Background	Disruption of dynein/dynactin complex produces motor neuron disease phenotype in mice
Result	One reported association, not yet replicated
Total Mutations	6
Total Affected	6

FALS	SALS	Male	Female	Bulbar	Limb	No data	Mean age onset	N
6	0	4	2	1	5	1	55	6

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First_Author	Year	Title	Paper
Munch	2004	Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS	Full_Paper
Munch	2005	Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD	Full_Paper
Puls	2003	Mutant dynactin in motor neuron disease	Full_Paper
Takahashi	2008	Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis	Full_Paper

SNP (rs)	Basepair	Author	Year	Term	Paper
72466496	74588717	Munch	2004	GRCh37	Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
121909343	74595997	Munch	2004	GRCh37	Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
121909344	74594023	Munch	2004	GRCh37	Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
121909345	74590464	Munch	2005	GRCh37	Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD
	74605231	Puls	2003	GRCh37	Mutant dynactin in motor neuron disease
	74592682	Takahashi	2008	GRCh37	Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis