PCCA
Gene name: propionyl CoA carboxylase, alpha polypeptideOMIM ID: 232000
Chromosome location: 13q32.3
Mutations
| Disease/Phenotype | Pontocerebellar hypoplasia type 2D |
|---|---|
| Reference transcript | NM_001178004.1 |
| DNA Change | c.1556+5G>A |
| A.A. Change | |
| Exon/Intron | intron |
| Mutation Type | substitution |
| Reference | Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS.VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet. 2014 Feb 27. [Epub ahead of print] |
| Disease/Phenotype | Pontocerebellar hypoplasia type 2D |
|---|---|
| Reference transcript | NM_001178004.1 |
| DNA Change | c.2084A>G |
| A.A. Change | p.Gln695Arg |
| Exon/Intron | 3' of the stop codon |
| Mutation Type | substitution |
| Reference | Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS.VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). J Med Genet. 2014 Feb 27. [Epub ahead of print] |