L125R (p.Leu125Arg) variant of BBS2 (BBSome complex member BBS2)
L125R (p.Leu125Arg) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome 2. The record also includes published literature and structural context.
L125R (p.Leu125Arg) variant details
- p.Leu125Arg
- UniProt VAR 066281
- Likely pathogenic
- Bardet-Biedl syndrome 2
- Missense
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome 2)
- EBI: Pathogenic (in BBS2)
- UniProt: Pathogenic (in BBS2)
- Structural context available
- Cited in: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PMID 21344540)
- Cited in: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (PMID 11285252)