| Variant ID | 4357 |
|---|---|
| Entrez Gene ID | 3176 |
| Gene | HNMT (GeneCards) |
| Location | hg19 2:138898018-138898018
hg38 2:138140448-138140448 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.138898018 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003233 |
|---|---|
| EIGEN score | 0.11 |
| CADD Raw score (version 1.3) | 0.066693 (Deleterious) |
| FATHMM raw prediction score | 0.13832 (Tolerated) |
| Deleterious probability by DeFine | 0.5615 (Deleterious) |
| Entrez Gene ID | 3176 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HNMT (GeneCards) |
| Number of variants in HNMT in this database | 9 (view all the variants) |
| Full name | histamine N-methyltransferase |
| Band | 2q22.1 |
| Other IDs | Vega: OTTHUMG00000131751 OMIM: 605238 HGNC: HGNC:5028 Ensembl: ENSG00000150540 |
| Other names | HMT, MRT51, HNMT-S1, HNMT-S2 |
| Summary | In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |