A243E (p.Ala243Glu) variant of PLP1 (Myelin proteolipid protein)
A243E (p.Ala243Glu) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pelizaeus-Merzbacher disease. The record also includes published literature and structural context.
A243E (p.Ala243Glu) variant details
- p.Ala243Glu
- rs2522322864
- ClinVar RCV004595797
- UniProt VAR 046917
- Likely pathogenic
- Pelizaeus-Merzbacher disease
- Missense
- ClinVar: Likely pathogenic (Pelizaeus-Merzbacher disease)
- EBI: Pathogenic (in HLD1)
- UniProt: Pathogenic (in HLD1)
- Structural context available
- Cited in: A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at… (PMID 11786921)
- Cited in: PLP1-Related Disorders. (PMID 20301361)