Phenotype: Spinal muscular atrophy-1


OMIM: 253300
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

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SMN1 || c.399_402delAGAG

Gene/Locus:    SMN1
Dna Change:    c.399_402delAGAG
Protein Change:    p.Glu134SerfsX14
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 4
Transcript:    NM_022874.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNANA15 Patients/10 familiesNACuscó 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