| Variant ID | 1102 |
|---|---|
| Entrez Gene ID | 29881 |
| Gene | NPC1L1 (GeneCards) |
| Location | hg19 7:44561336-44561336
hg38 7:44521737-44521737 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.44561336 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 976 |
| Amino acid changes in protein | K > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1788 |
| CADD Raw score (version 1.3) | 0.584138 (Deleterious) |
| FATHMM raw prediction score | 0.14731 (Tolerated) |
| Deleterious probability by DeFine | 0.7722 (Deleterious) |
| Entrez Gene ID | 29881 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NPC1L1 (GeneCards) |
| Number of variants in NPC1L1 in this database | 2 (view all the variants) |
| Full name | NPC1 like intracellular cholesterol transporter 1 |
| Band | 7p13 |
| Other IDs | Vega: OTTHUMG00000023691 OMIM: 608010 HGNC: HGNC:7898 Ensembl: ENSG00000015520 |
| Other names | LDLCQ7, NPC11L1, SLC65A2 |
| Summary | The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |