| Variant ID | 1077 |
|---|---|
| Entrez Gene ID | 50489 |
| Gene | CD207 (GeneCards) |
| Location | hg19 2:71060165-71060165
hg38 2:70833034-70833034 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.71060165 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 195 |
| Amino acid changes in protein | V > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5929 |
| CADD Raw score (version 1.3) | 1.349864 (Deleterious) |
| FATHMM raw prediction score | 0.0433 (Tolerated) |
| SIFT score | 0.293 (Tolerated) |
| LRT score | 0.044 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.455 (Tolerated) |
| PROVEAN score | -0.04 (Tolerated) |
| MetaSVM score | -1.036 (Tolerated) |
| MetaLR score | 0.026 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.22 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.511 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.075 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.218 |
| Deleterious probability by iFish2 | 0.0247 (Neutral) |
| Deleterious probability by DeFine | 0.7565 (Deleterious) |
| Entrez Gene ID | 50489 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CD207 (GeneCards) |
| Number of variants in CD207 in this database | 1 (view all the variants) |
| Full name | CD207 molecule |
| Band | 2p13.3 |
| Other IDs | Vega: OTTHUMG00000153176 OMIM: 604862 HGNC: HGNC:17935 Ensembl: ENSG00000116031 |
| Other names | CLEC4K |
| Summary | The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010] |
| 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; |