| Variant ID | 1033 |
|---|---|
| Entrez Gene ID | 3683 |
| Gene | ITGAL (GeneCards) |
| Location | hg19 16:30495533-30495533
hg38 16:30484212-30484212 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.30495533 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 319 |
| Amino acid changes in protein | K > Q |
| 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 | 0.4774 |
| CADD Raw score (version 1.3) | 3.38757 (Deleterious) |
| FATHMM raw prediction score | 0.80855 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.165 (Deleterious) |
| PROVEAN score | -1.41 (Tolerated) |
| MetaSVM score | 0.184 (Deleterious) |
| MetaLR score | 0.575 (Deleterious) |
| MCAP score | 0.103 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.97 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.146 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.907 |
| Deleterious probability by iFish2 | 0.0281 (Neutral) |
| Deleterious probability by DeFine | 0.9375 (Deleterious) |
| Entrez Gene ID | 3683 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITGAL (GeneCards) |
| Number of variants in ITGAL in this database | 1 (view all the variants) |
| Full name | integrin subunit alpha L |
| Band | 16p11.2 |
| Other IDs | Vega: OTTHUMG00000176964 OMIM: 153370 HGNC: HGNC:6148 Ensembl: ENSG00000005844 |
| Other names | CD11A, LFA-1, LFA1A |
| Summary | ITGAL encodes the integrin alpha L 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 the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [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; |