Variant position: 289 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 499 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 NAITQTIKCSHERSVHLFID SLLHAGTQSMAYPCGDMNSFS
Mouse NAITQTIKCAHERSVHLFID SLQHSDLQSIGFQCSDMGSFS
Rat NAITQTINCAHERSVHLFID SLQHSNLQNTGFQCSNMDSFS
Bovine NAITRTVKCAHERSVHLFID SLLHADMQSMAYLCRDMDRFS
Rabbit NALSQTIKCAHERSVHLFID SLLHPSMQSTAYQCSDMDSFS
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
23 – 499 Hepatic triacylglycerol lipase
279 – 279 Charge relay system
Human hepatic lipase mutations and polymorphisms.
Hegele R.A.; Tu L.; Connelly P.W.;
Hum. Mutat. 1:320-324(1992)
Cited for: VARIANTS HL DEFICIENCY PHE-289 AND MET-405;
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: VARIANTS MET-95; SER-215; PHE-289; ILE-342; LEU-356; MET-405 AND ALA-409;
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.