| Variant ID | 1034 |
|---|---|
| Entrez Gene ID | 3684 |
| Gene | ITGAM (GeneCards) |
| Location | hg19 16:31308936-31308936
hg38 16:31297615-31297615 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.31308936 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 486 |
| Amino acid changes in protein | T > T |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1149 |
| CADD Raw score (version 1.3) | 1.074724 (Deleterious) |
| FATHMM raw prediction score | 0.11962 (Tolerated) |
| Deleterious probability by DeFine | 0.8746 (Deleterious) |
| Entrez Gene ID | 3684 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITGAM (GeneCards) |
| Number of variants in ITGAM in this database | 2 (view all the variants) |
| Full name | integrin subunit alpha M |
| Band | 16p11.2 |
| Other IDs | Vega: OTTHUMG00000176612 OMIM: 120980 HGNC: HGNC:6149 Ensembl: ENSG00000169896 |
| Other names | CR3A, MO1A, CD11B, MAC-1, MAC1A, SLEB6 |
| Summary | This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 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; |