SEPSECS

Gene name: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
OMIM ID: 613009
Chromosome location: 4p15.2

Mutations

Disease/Phenotype	Pontocerebellar hypoplasia type 2D
Reference transcript	NM_016955.3
DNA Change	c.1001A>G
A.A. Change	p.Tyr334Cys
Exon/Intron	exon 8
Mutation Type	substitution
Reference	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, Soll D, Lerman-Sagie T, Birk OS.Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44.

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Disease/Phenotype	Pontocerebellar hypoplasia type 2D
Reference transcript	NM_016955.3
DNA Change	c.715G>A
A.A. Change	p.Ala239Thr
Exon/Intron	exon 6
Mutation Type	substitution
Reference	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, Soll D, Lerman-Sagie T, Birk OS.Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet. 2010 Oct 8;87(4):538-44.

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