Variant ID | 33046 |
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Entrez Gene ID | 338 |
Gene | APOB (GeneCards) |
Location | hg19 2:21252859-21252860
hg38 2:21029987-21029988 |
Disease | Asymptomatic |
Method | NGS gene panel |
Mutation(HGVS format) | NC_000002.11:g.21252859 GG>AA (Genome Assembly: hg19) |
Exon or Intron | Exon |
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Position in protein | 461 |
Amino acid changes in protein | Q > * |
Position in cDNA | 1380 |
Changes in cDNA | C > T |
mRNA accession | NA |
mRNA length | NA |
Reference length | 243199373 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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Deleterious probability by DeFine | 0.8323 (Deleterious) |
Entrez Gene ID | 338 (NCBI Gene) |
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Official Gene Symbol | APOB (GeneCards) |
Number of variants in APOB in this database | 138 (view all the variants) |
Full name | apolipoprotein B |
Band | 2p24.1 |
Other IDs | Vega: OTTHUMG00000090785 OMIM: 107730 HGNC: HGNC:603 Ensembl: ENSG00000084674 |
Other names | FLDB, LDLCQ4, apoB-48, apoB-100 |
Summary | This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008] |
Individual ID | 25999502.03 (view all the variants in this individual) |
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Pubmed ID | 25999502 |
Whose mosaic mutation | Normal |
Origin of mosaic mutation in patients | de novo |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |
Pubmed ID | 25999502 |
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Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
Journal | Science |
Publication date | 2015.05 |
Disease | Asymptomatic |
Number of cases | Male cases: 1; Female cases: 3; |