| Variant ID | 809 |
|---|---|
| Entrez Gene ID | 55567 |
| Gene | DNAH3 (GeneCards) |
| Location | hg19 16:21080828-21080828
hg38 16:21069507-21069507 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.21080828 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1097 |
| Amino acid changes in protein | F > L |
| 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 | 0.9005 |
| CADD Raw score (version 1.3) | 6.49603 (Deleterious) |
| FATHMM raw prediction score | 0.98828 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.42 (Deleterious) |
| PROVEAN score | -5.78 (Deleterious) |
| MetaSVM score | 0.448 (Deleterious) |
| MetaLR score | 0.634 (Deleterious) |
| MCAP score | 0.118 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.15 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.314 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.281 |
| Deleterious probability by iFish2 | 0.053 (Neutral) |
| Deleterious probability by DeFine | 0.9664 (Deleterious) |
| Entrez Gene ID | 55567 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNAH3 (GeneCards) |
| Number of variants in DNAH3 in this database | 4 (view all the variants) |
| Full name | dynein axonemal heavy chain 3 |
| Band | 16p12.3 |
| Other IDs | Vega: OTTHUMG00000090677 OMIM: 603334 HGNC: HGNC:2949 Ensembl: ENSG00000158486 |
| Other names | HDHC8, HEL-36, DNAHC3B, HSADHC3, DNAHC3-B |
| Summary | This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016] |
| Individual ID | 27788131.01 (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; |