{{Rsnum
|rsid=17029215
|Gene=MTTP
|Chromosome=4
|position=99600648
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.05005
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=MTTP
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 93.8 | 6.2 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 67.8 | 30.1 | 2.1
| ASW | 68.4 | 31.6 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 87.1 | 12.9 | 0.0
| LWK | 78.2 | 20.9 | 0.9
| MEX | 94.8 | 5.2 | 0.0
| MKK | 72.4 | 26.3 | 1.3
| TSI | 91.2 | 8.8 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=17029215
|allele=C
|frequency=0
|uid=1103654496903
|type=homozygous_SNP
|hugo=MTTP
|ensembl gene=ENSG00000138823
|ensembl transcript=ENST00000265517
|sift=TOLERATED
|disease=Defects in MTTP are the cause of abetalipoproteinemia (ABL) (MIM:200100). ABL is an autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration.
}}

{{PMID|19878569|OA=1
}} Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.

{{GET Evidence
|gene=MTTP
|aa_change=Asp384Ala
|aa_change_short=D384A
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs17029215
|overall_frequency_n=846
|overall_frequency_d=10758
|overall_frequency=0.0786391
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=3
|n_articles_annotated=1
|pph2_score=0.015
|nblosum100=5
|autoscore=0
|webscore=N
|summary_short=This variant was found in an individual with familial hypobetalipoproteinemia as part of a compound heterozygote with G661A and with a background of homozygosity for ApoE2.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}