TTPA
Gene name: tocopherol (alpha) transfer proteinOMIM ID: 600415
Chromosome location: 8q12.3
Mutations
| Disease/Phenotype | Ataxia with isolated vitamin E deficiency |
|---|---|
| Reference transcript | NM_000370.3 |
| DNA Change | c.486delT |
| A.A. Change | p.Trp163GlyfsX13 |
| Exon/Intron | exon 3 |
| Mutation Type | deletion |
| Reference | Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M.Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet. 1998 Feb;62(2):301-10. |
| Disease/Phenotype | Ataxia with isolated vitamin E deficiency |
|---|---|
| Reference transcript | NM_000370.3 |
| DNA Change | c.744delA |
| A.A. Change | p.Glu249AsnfsX15 |
| Exon/Intron | exon 5 |
| Mutation Type | deletion |
| Reference | Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M.Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet. 1998 Feb;62(2):301-10. |
| Disease/Phenotype | Ataxia with isolated vitamin E deficiency |
|---|---|
| Reference transcript | NM_000370.3 |
| DNA Change | c.744delA |
| A.A. Change | p.Glu249AsnfsX15 |
| Exon/Intron | exon 5 |
| Mutation Type | deletion |
| Reference | Marzouki N, Benomar A, Yahyaoui M, Birouk N, Elouazzani M, Chkili T, Benlemlih M.Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet. 2005 Jan-Mar;48(1):21-8. |