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Last update

21/6/2017

Gene: protein-O-mannosyltransferase 1; POMT1

Gene Symbol: POMT1
OMIM: 607423
Chromosome location: 9q34.13

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 || insertion of an inversed Alu repeated

Phenotype:	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Dna Change:	insertion of an inversed Alu repeated
Protein Change:
Mutation Type:	Insertion
Mutation Effect:	Frameshift
Location:	exon 3
Transcript:

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	5 fetuses/ 3 families	NA	Bouchet C et al., 2007Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N, . Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.. Mol. Genet. Metab.. 2007; 90(1):93-6

References

Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N, Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.Mol. Genet. Metab.. 2007; 90(1):93-6

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: protein-O-mannosyltransferase 1; POMT1

References