Gene: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase; SEPSECS


Gene Symbol: SEPSECS
OMIM: 613009
Chromosome location: 4p15.2

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Pontocerebellar hypoplasia type 2D || c.715G>A

Phenotype:    Pontocerebellar hypoplasia type 2D
Dna Change:    c.715G>A
Protein Change:    p.Ala239Thr
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 6
Transcript:    NM_016955.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJewsNA2 patients/ 2 unrelated familiesNAAgamy O et al., 2010Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Söll D, Lerman-Sagie T, Birk OS, . Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.. Am. J. Hum. Genet.. 2010; 87(4):538-44

References

Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Söll D, Lerman-Sagie T, Birk OS, Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.Am. J. Hum. Genet.. 2010; 87(4):538-44