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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04180: Variant p.Ser232Thr

Phosphatidylcholine-sterol acyltransferase
Gene: LCAT
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Variant information Variant position: help 232
Type of variant: help LB/B
Residue change: help From Serine (S) to Threonine (T) at position 232 (S232T, p.Ser232Thr).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (T)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 232
Protein sequence length: help 440
Location on the sequence: help LYFLLRQPQAWKDRFIDGFI S LGAPWGGSIKPMLVLASGDN
Residue conservation: help 
Human                         LYFLLRQPQAWKDRFIDGFISLGAPWGGSIKPMLVLASGDN

Mouse                         LHFLLRQPQSWKDHFIDGFISLGAPWGGSIKAMRILASGDN

Rat                           LHFLLRQPQSWKDHFIDGFISLGAPWGGSIKPMRILASGDN

Rabbit                        LYFLLRQPQSWKDRFIDGFISLGAPWGGSIKPMLVLASGDN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 25 – 440 Phosphatidylcholine-sterol acyltransferase
Beta strand 227 – 234



Literature citations
A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100.
Nanjee M.N.; Stocks J.; Cooke C.J.; Molhuizen H.O.; Marcovina S.; Crook D.; Kastelein J.P.; Miller N.E.;
Atherosclerosis 170:105-113(2003)
Cited for: VARIANTS LCATD MET-345 AND VAL-406; VARIANT THR-232; Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
Morabia A.; Cayanis E.; Costanza M.C.; Ross B.M.; Flaherty M.S.; Alvin G.B.; Das K.; Gilliam T.C.;
Hum. Mol. Genet. 12:2733-2743(2003)
Cited for: VARIANT THR-232; LCAT deficiency: molecular and phenotypic characterization of an Italian family.
Gigante M.; Ranieri E.; Cerullo G.; Calabresi L.; Iolascon A.; Assmann G.; Morrone L.; Pisciotta L.; Schena F.P.; Gesualdo L.;
J. Nephrol. 19:375-381(2006)
Cited for: VARIANTS THR-232 AND ARG-396;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.