N265I (p.Asn265Ile) variant of IDS (Iduronate 2-sulfatase)
N265I (p.Asn265Ile) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The record also includes published literature and structural context.
N265I (p.Asn265Ile) variant details
- p.Asn265Ile
- rs2520851150
- ClinGen CA414521929
- ClinVar RCV003146127
- UniProt VAR 026941
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. (PMID 11731225)
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)