| Variant ID | 967 |
|---|---|
| Entrez Gene ID | 1378 |
| Gene | CR1 (GeneCards) |
| Location | hg19 1:207790038-207790038
hg38 1:207616693-207616693 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.207790038 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 2260 |
| Amino acid changes in protein | G > G |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5976 |
| CADD Raw score (version 1.3) | 0.15564 (Deleterious) |
| FATHMM raw prediction score | 0.14884 (Tolerated) |
| Deleterious probability by DeFine | 0.639 (Deleterious) |
| Entrez Gene ID | 1378 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CR1 (GeneCards) |
| Number of variants in CR1 in this database | 1 (view all the variants) |
| Full name | complement C3b/C4b receptor 1 (Knops blood group) |
| Band | 1q32.2 |
| Other IDs | Vega: OTTHUMG00000036311 OMIM: 120620 HGNC: HGNC:2334 Ensembl: ENSG00000203710 |
| Other names | KN, C3BR, C4BR, CD35 |
| Summary | This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008] |
| 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; |