Variant position: 345 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 LAGLPAPGVEVYCLYGVGLP TPRTYIYDHGFPYTDPVGVLY
Mouse LERLPAPGVEVYCLYGVGRP TPHTYIYDHNFPYKDPVAALY
Rat LAGLPAPGVEVYCLYGVGMP TAHTYIYDHNFPYKDPVAALY
Rabbit LAGLPAPGVEVYCLYGIGLP TPHTYIYDHGFPYTDPVGVLY
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.
Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.
Funke H.; von Eckardstein A.; Pritchard P.H.; Hornby A.E.; Wiebusch H.; Motti C.; Hayden M.R.; Dachet C.; Jacotot B.; Gerdes U.; Faergeman O.; Albers J.J.; Colleoni N.; Catapano A.; Frohlich J.; Assmann G.;
J. Clin. Invest. 91:677-683(1993)
Cited for: VARIANTS LCATD THR-117; TRP-159; PRO-233 AND MET-345; VARIANT CYS-182;
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;
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