{{Rsnum
|rsid=2306985
|Gene=MTTP
|Chromosome=4
|position=99594865
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.4922
|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 | 43.1 | 43.1 | 13.8
| HCB | 8.9 | 40.0 | 51.1
| JPT | 13.6 | 38.6 | 47.7
| YRI | 4.8 | 20.6 | 74.6
| ASW | 0.0 | 0.0 | 0.0
| CHB | 8.9 | 40.0 | 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=2306985
|allele=G
|frequency=0.342
|uid=1103654496895
|type=homozygous_SNP
|hugo=MTTP
|ensembl gene=ENSG00000138823
|ensembl transcript=ENST00000265517
|sift=
|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 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=His297Gln
|aa_change_short=H297Q
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2306985
|overall_frequency_n=5322
|overall_frequency_d=10758
|overall_frequency=0.494702
|n_genomes=45
|n_genomes_annotated=0
|n_haplomes=73
|n_articles=0
|n_articles_annotated=0
|nblosum100=-1
|autoscore=0
|webscore=N
}}

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