K35N (p.Lys35Asn) variant of BIN1 (O00499)
K35N (p.Lys35Asn) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myopathy, centronuclear, 2. The record also includes published literature and structural context.
K35N (p.Lys35Asn) variant details
- p.Lys35Asn
- rs121909273
- ClinGen CA119458
- NCI-TCGA Cosmic COSV9938
- cosmic curated COSV99387
- Pathogenic
- Myopathy, centronuclear, 2
- Missense
- ClinVar: Pathogenic (Myopathy, centronuclear, 2)
- EBI: Pathogenic (in CNM2)
- UniProt: Pathogenic (in CNM2)
- Structural context available
- Cited in: Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear… (PMID 17676042)
- Cited in: Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and… (PMID 24755653)