{{Rsnum
|rsid=2306986
|Gene=MTTP
|Chromosome=4
|position=99583418
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.1267
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=MTTP
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 0.0 | 1.5 | 98.5
| HCB | 6.7 | 42.2 | 51.1
| JPT | 2.3 | 38.6 | 59.1
| YRI | 7.9 | 31.7 | 60.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 6.7 | 42.2 | 51.1
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2306986
|allele=C
|frequency=0.008
|uid=1103654496850
|type=heterozygous_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.
}}

{{ neighbor
| rsid = 3816873
| distance = 89
}}

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

{{GET Evidence
|gene=MTTP
|aa_change=Glu98Asp
|aa_change_short=E98D
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2306986
|overall_frequency_n=959
|overall_frequency_d=10754
|overall_frequency=0.0891761
|n_genomes=16
|n_genomes_annotated=0
|n_haplomes=19
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.001
|nblosum100=-2
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}