rs372321643
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
8939939
1996
rs146064714
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia.
7782284
1995
rs146064714
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.
8533758
1995
rs755681036
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.700
GeneticVariation
CLINVAR
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.
8533758
1995
rs1553926818
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
rs1553927840
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
G
0.700
GeneticVariation
CLINVAR
rs1560614154
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
rs1560621444
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.700
CausalMutation
CLINVAR
rs199422219
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.700
CausalMutation
CLINVAR
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
26224785
2015
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Novel missense MTTP gene mutations causing abetalipoproteinemia.
25108285
2014
rs199422220
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs199422221
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs199422222
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
22236406
2012
rs199422220
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs199422221
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs199422222
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs199422222
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
12630961
2003
rs199422221
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable.
10946006
2000
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
10679949
2000
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
10946006
2000