| Variant ID | 1088 |
|---|---|
| Entrez Gene ID | 10117 |
| Gene | ENAM (GeneCards) |
| Location | hg19 4:71508318-71508318
hg38 4:70642601-70642601 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.71508318 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 392 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4879 |
| CADD Raw score (version 1.3) | 1.496918 (Deleterious) |
| FATHMM raw prediction score | 0.16816 (Tolerated) |
| SIFT score | 0.057 (Tolerated) |
| LRT score | 0.029 (Tolerated) |
| MutationTaster score | 0.998 (Tolerated) |
| MutatioinAssessor score | 2.015 (Deleterious) |
| PROVEAN score | -7.08 (Deleterious) |
| MetaSVM score | -1.007 (Tolerated) |
| MetaLR score | 0.083 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.09 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.437 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.373 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.313 |
| Deleterious probability by iFish2 | 0.5311 (Deleterious) |
| Deleterious probability by DeFine | 0.8011 (Deleterious) |
| Entrez Gene ID | 10117 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ENAM (GeneCards) |
| Number of variants in ENAM in this database | 1 (view all the variants) |
| Full name | enamelin |
| Band | 4q13.3 |
| Other IDs | Vega: OTTHUMG00000129914 OMIM: 606585 HGNC: HGNC:3344 Ensembl: ENSG00000132464 |
| Other names | ADAI, AI1C, AIH2 |
| Summary | Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[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; |