C1532Y (p.Cys1532Tyr) variant of HSPG2 (P98160)
C1532Y (p.Cys1532Tyr) in HSPG2 (P98160) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Schwartz-Jampel syndrome type 1. The record also includes variant effect predictions, population frequency data, and published literature.
C1532Y (p.Cys1532Tyr) variant details
- p.Cys1532Tyr
- rs137853248
- ClinGen CA124452
- ClinVar RCV001800294
- UniProt VAR 014122
- Pathogenic
- Schwartz-Jampel syndrome type 1
- Missense
- REVEL 0.97
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Schwartz-Jampel syndrome type 1)
- EBI: Pathogenic (in SJS1)
- UniProt: Pathogenic (in SJS1)
- Population evidence available
- Cited in: Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome… (PMID 11101850)
- Cited in: Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome. (PMID 17213231)