G57R c.169G>C with numbering including signal peptide
Kinetic parameters
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none
References:
Title: Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene Wiebusch H, Cullen P, Owen JS, Collins D, Sharp PS, Funke H, Assmann G Ref: Hum Mol Genet, 4:143, 1995 : PubMed