| Variant ID | 890 |
|---|---|
| Entrez Gene ID | 349565 |
| Gene | NMNAT3 (GeneCards) |
| Location | hg19 3:139297783-139297783
hg38 3:139578941-139578941 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.139297783 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 38 |
| Amino acid changes in protein | S > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9892 |
| CADD Raw score (version 1.3) | 6.391281 (Deleterious) |
| FATHMM raw prediction score | 0.98833 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.885 (Deleterious) |
| PROVEAN score | -5.53 (Deleterious) |
| MetaSVM score | 1.094 (Deleterious) |
| MetaLR score | 0.958 (Deleterious) |
| MCAP score | 0.376 (Deleterious) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.76 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.353 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.062 |
| Deleterious probability by iFish2 | 0.8986 (Deleterious) |
| Deleterious probability by DeFine | 0.9575 (Deleterious) |
| Entrez Gene ID | 349565 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NMNAT3 (GeneCards) |
| Number of variants in NMNAT3 in this database | 2 (view all the variants) |
| Full name | nicotinamide nucleotide adenylyltransferase 3 |
| Band | 3q23 |
| Other IDs | Vega: OTTHUMG00000159951 OMIM: 608702 HGNC: HGNC:20989 Ensembl: ENSG00000163864 |
| Other names | PNAT3, FKSG76, PNAT-3 |
| Summary | This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] |
| 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; |