Variant position: 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 440 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LYFLLRQPQAWKDRFIDGFI SLGAPWGGSIKPMLVLASGDN
Mouse LHFLLRQPQSWKDHFIDGFI SLGAPWGGSIKAMRILASGDN
Rat LHFLLRQPQSWKDHFIDGFI SLGAPWGGSIKPMRILASGDN
Rabbit LYFLLRQPQSWKDRFIDGFI SLGAPWGGSIKPMLVLASGDN
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
25 – 440 Phosphatidylcholine-sterol acyltransferase
227 – 234
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.;
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;
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.