Variant position: 164 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 YLHTLVQNLVNNGYVRDETV RAAPYDWRLEPGQQEEYYRKL
Mouse YLHTLVQNLVNNGYVRDETV RAAPYDWRLAPHQQDEYYKKL
Rat YLNTLVQNLVNNGYVRDETV RAAPYDWRLAPRQQDEYYQKL
Rabbit YMHTLVQNLVNNGYVRDETV RAAPYDWRLEPSQQEEYYGKL
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
173 – 173 Determinant for substrate specificity
173 – 173 E -> A. Increased activity towards PAPC. Increased PAPC/POPC activity ratio.
173 – 173 E -> D. Little change in enzyme specific activity nor in PAPC/POPC activity ratio.
173 – 173 E -> K. Decreased enzyme specific activity. Increased PAPC/POPC activity ratio.
173 – 173 E -> L. Increased activity towards PAPC. Increased PAPC/POPC activity ratio.
173 – 173 E -> Q. Decreased enzyme specific activity. Increased PAPC/POPC activity ratio.
163 – 165
A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency.
Steyrer E.; Haubenwallner S.; Hoerl G.; Giessauf W.; Kostner G.M.; Zechner R.;
Hum. Genet. 96:105-109(1995)
Cited for: VARIANT LCATD HIS-164; CHARACTERIZATION OF VARIANT LCATD HIS-164;
Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.
Hoerl G.; Kroisel P.M.; Wagner E.; Tiran B.; Petek E.; Steyrer E.;
Cited for: VARIANT ARG-95; VARIANT LCATD HIS-164; CHARACTERIZATION OF VARIANT ARG-95;
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.