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Last update

21/6/2017

Gene: sialidase 1 (lysosomal sialidase); NEU1

Gene Symbol: NEU1
OMIM: 608272
Chromosome location: 6p21.33

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

Sialidosis, type II || c.808C>T

Phenotype:	Sialidosis, type II
Dna Change:	c.808C>T
Protein Change:	p.Leu270Phe
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 5
Transcript:	NM_000434.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Seville	3 patients/2 unrelated families	NA	Rodríguez Criado G et al., 2003Rodríguez Criado G, Pshezhetsky AV, Rodríguez Becerra A, Gómez de Terreros I, . Clinical variability of type II sialidosis by C808T mutation.. Am. J. Med. Genet. A. 2003; 116(4):368-71

References

Rodríguez Criado G, Pshezhetsky AV, Rodríguez Becerra A, Gómez de Terreros I, Clinical variability of type II sialidosis by C808T mutation.Am. J. Med. Genet. A. 2003; 116(4):368-71

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: sialidase 1 (lysosomal sialidase); NEU1

References