A136P (p.Ala136Pro) variant of BBS2 (BBSome complex member BBS2)
A136P (p.Ala136Pro) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BBS2. The record also includes published literature and structural context.
A136P (p.Ala136Pro) variant details
- p.Ala136Pro
- UniProt VAR 066282
- Pathogenic
- in BBS2
- Missense
- 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)