SWISSVAR
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1 protein found in SwissVar (34 variants)

with gene/protein name P04180

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase deficiency p.Asn29Ile
p.Thr37Met
p.Gly54Ser
p.Gly57Arg
p.Ala117Thr
p.Arg159Trp
p.Arg164His
p.Arg164Cys
p.Arg171Trp
p.Tyr180Asn
p.Ser205Asn
p.Leu233Pro
p.Lys242Asn
p.Asn252Lys
p.Arg268His
p.Thr298Ile
p.Thr298Ala
p.Met317Ile
p.Pro331Ser
p.Val333Met
p.Thr345Met
p.Leu396Arg
p.Phe406Val























P04180 LCAT_HUMAN fish-eye disease p.Pro34Gln
p.Pro34Leu
p.Val70Glu
p.Trp99Ser
p.Arg123Cys
p.Thr147Ile
p.Arg159Gln
p.Met276Lys
p.Thr298Ala
p.Leu338Phe
p.Arg347Cys
p.Thr371Met