L107P (p.Leu107Pro) variant of REEP1 (Q9H902)
L107P (p.Leu107Pro) in REEP1 (Q9H902) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SPG31. The record also includes published literature and structural context.
L107P (p.Leu107Pro) variant details
- p.Leu107Pro
- cosmic curated COSV51256
- UniProt VAR 072611
- Pathogenic
- in SPG31
- Missense
- EBI: Pathogenic (in SPG31)
- UniProt: Pathogenic (in SPG31)
- Structural context available
- Cited in: Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). (PMID 18644145)
- Cited in: Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. (PMID 16826527)