| Variant ID | 8694 |
|---|---|
| Entrez Gene ID | 4552 |
| Gene | MTRR (GeneCards) |
| Location | hg19 5:8264838-8264838
hg38 5:8264725-8264725 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.8264838 T>C (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3419 |
| CADD Raw score (version 1.3) | -0.080712 (Deleterious) |
| FATHMM raw prediction score | 0.06335 (Tolerated) |
| Deleterious probability by DeFine | 0.1975 (Neutral) |
| Entrez Gene ID | 4552 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MTRR (GeneCards) |
| Number of variants in MTRR in this database | 9 (view all the variants) |
| Full name | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
| Band | 5p15.31 |
| Other IDs | Vega: OTTHUMG00000090477 OMIM: 602568 HGNC: HGNC:7473 Ensembl: ENSG00000124275 |
| Other names | MSR, cblE |
| Summary | This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
| 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; |