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Last update

21/6/2017

Gene: survival of motor neuron 1, telomeric; SMN1

Gene Symbol: SMN1
OMIM: 600354
Chromosome location: 5q13.2

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

Spinal muscular atrophy-1 || c.399_402delAGAG

Phenotype:	Spinal muscular atrophy-1
Dna Change:	c.399_402delAGAG
Protein Change:	p.Glu134SerfsX14
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 4
Transcript:	NM_022874.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	15 Patients/10 families	NA	Cuscó I et al., 2003Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF, . A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.. Hum. Mutat.. 2003; 22(2):136-43

References

Cuscó I, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF, A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.Hum. Mutat.. 2003; 22(2):136-43

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: survival of motor neuron 1, telomeric; SMN1

References