C184F (p.Cys184Phe) variant of IDS (Iduronate 2-sulfatase)
C184F (p.Cys184Phe) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
C184F (p.Cys184Phe) variant details
- p.Cys184Phe
- rs2520864754
- ClinGen CA414522506
- NCI-TCGA Cosmic COSV6171
- ClinVar RCV003509089
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. (PMID 8940265)
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)