PQBP1
Gene name: polyglutamine binding protein 1OMIM ID: 300463
Chromosome location: Xp11.23
Mutations
| Disease/Phenotype | Mental retardation, X-linked 55 |
|---|---|
| Reference transcript | NM_005710.2 |
| DNA Change | c.459_462delAGAG |
| A.A. Change | p.Arg153SerfsX40 |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, G?cz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, et al.Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet. 2003 Dec;35(4):313-5. |