ABCC7 p.Leu436Phe
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PMID: 15744523
[PubMed]
Clain J et al: "A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype."
No.
Sentence
Comment
118
The complex allele [p.R201C;p.L436F] has recently been reported (Caciotti et al. 2003); expression studies have revealed a deleterious effect of the p.L436F polymorphism on the known p.R201C mutation resulting in a late infantile subtype of type-II GM1, instead of the juvenile form classically associated with p.R201C.
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ABCC7 p.Leu436Phe 15744523:118:151
status: NEW