| Variant ID | 30489 |
|---|---|
| Entrez Gene ID | 338 |
| Gene | APOB (GeneCards) |
| Location | hg19 2:21229812-21229812
hg38 2:21006940-21006940 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000002.11:g.21229812 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 3310 |
| Amino acid changes in protein | P > S |
| Position in cDNA | 9928 |
| Changes in cDNA | C > T |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6592 |
| CADD Raw score (version 1.3) | 3.660913 (Deleterious) |
| FATHMM raw prediction score | 0.99191 (Tolerated) |
| SIFT score | 0.008 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.25 (Deleterious) |
| PROVEAN score | -4.83 (Deleterious) |
| MetaSVM score | -0.368 (Tolerated) |
| MetaLR score | 0.287 (Tolerated) |
| MCAP score | 0.029 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.27 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.125 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.884 |
| Deleterious probability by iFish2 | 0.465 (Neutral) |
| Deleterious probability by DeFine | 0.9487 (Deleterious) |
| Entrez Gene ID | 338 (NCBI Gene) |
|---|---|
| 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 | 25999502.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| 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; |