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Last update

21/6/2017

Phenotype: GM1-gangliosidosis, type I

OMIM: 230500
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

GLB1 || c.176G>A

Gene/Locus:	GLB1
Dna Change:	c.176G>A
Protein Change:	p.Arg59His
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000404.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	Gypsy	Roma	6 patients/30 patients	NA	Santamaria R et al., 2006Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D, . Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.. Hum. Mutat.. 2006; 27(10):1060

References

Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D, Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.Hum. Mutat.. 2006; 27(10):1060

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: GM1-gangliosidosis, type I

References