D256Y (p.Asp256Tyr) variant of SMN1 (Survival motor neuron protein)
D256Y (p.Asp256Tyr) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kugelberg-Welander disease. The record also includes published literature and structural context.
D256Y (p.Asp256Tyr) variant details
- p.Asp256Tyr
- rs2532126303
- ClinVar RCV004576118
- Likely pathogenic
- Kugelberg-Welander disease
- Missense
- ClinVar: Likely pathogenic (Kugelberg-Welander disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)
- Cited in: Spinal Muscular Atrophy. (PMID 20301526)