Q39L (p.Gln39Leu) variant of NPHS2 (Podocin)
Q39L (p.Gln39Leu) in NPHS2 (Podocin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NPHS2. The record also includes published literature and structural context.
Q39L (p.Gln39Leu) variant details
- p.Gln39Leu
- UniProt VAR 072140
- Pathogenic
- in NPHS2
- Missense
- EBI: Pathogenic (in NPHS2)
- UniProt: Pathogenic (in NPHS2)
- Structural context available
- Cited in: NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. (PMID 17899208)
- Cited in: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. (PMID 10742096)