| Variant ID | 7525 |
|---|---|
| Entrez Gene ID | 411 |
| Gene | ARSB (GeneCards) |
| Location | hg19 5:78219825-78219825
hg38 5:78924002-78924002 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.78219825 A>G (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 | -0.2118 |
| CADD Raw score (version 1.3) | -0.019246 (Deleterious) |
| FATHMM raw prediction score | 0.10121 (Tolerated) |
| Deleterious probability by DeFine | 0.2534 (Neutral) |
| Entrez Gene ID | 411 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARSB (GeneCards) |
| Number of variants in ARSB in this database | 2 (view all the variants) |
| Full name | arylsulfatase B |
| Band | 5q14.1 |
| Other IDs | Vega: OTTHUMG00000108129 OMIM: 611542 HGNC: HGNC:714 Ensembl: ENSG00000113273 |
| Other names | ASB, G4S, MPS6 |
| Summary | Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |