N340I (p.Asn340Ile) variant of SELENON (Selenoprotein N)
N340I (p.Asn340Ile) in SELENON (Selenoprotein N) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMYO3. The record also includes variant effect predictions and published literature.
N340I (p.Asn340Ile) variant details
- p.Asn340Ile
- rs749911126
- UniProt VAR 019638
- Pathogenic
- in CMYO3
- Missense
- AlphaMissense 0.48
- MetaLR 0.88
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- EBI: Pathogenic (in CMYO3)
- UniProt: Pathogenic (in CMYO3)
- Cited in: Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical… (PMID 12192640)
- Cited in: Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. (PMID 11528383)