Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TTPA

Gene name: tocopherol (alpha) transfer protein
OMIM ID: 600415
Chromosome location: 8q12.3

Mutations

Disease/PhenotypeAtaxia with isolated vitamin E deficiency
Reference transcriptNM_000370.3
DNA Changec.486delT
A.A. Changep.Trp163GlyfsX13
Exon/Intronexon 3
Mutation Typedeletion
ReferenceCavalier 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/PhenotypeAtaxia with isolated vitamin E deficiency
Reference transcriptNM_000370.3
DNA Changec.744delA
A.A. Changep.Glu249AsnfsX15
Exon/Intronexon 5
Mutation Typedeletion
ReferenceCavalier 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/PhenotypeAtaxia with isolated vitamin E deficiency
Reference transcriptNM_000370.3
DNA Changec.744delA
A.A. Changep.Glu249AsnfsX15
Exon/Intronexon 5
Mutation Typedeletion
ReferenceMarzouki 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.