Variant position: 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 860 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 MARDCRDWSDEPIKECGTNE CLDNNGGCSHVCNDLKIGYEC
Mouse SARDCQDWSDEPIKECKTNE CLDNNGGCSHICKDLKIGSEC
Rat SARDCRDWSDEPIKECKTNE CLDNNGGCSHICKDLKIGYEC
Bovine SVRDCRDWSDEPLKDCGTNE CLDNKGGCSHICNDLKIGYEC
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.
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
Lelli N.; Garuti R.; Pedrazzi P.; Ghisellini M.; Simone M.L.; Tiozzo R.; Cattin L.; Valenti M.; Rolleri M.; Bertolini S.; Stefanutti C.; Calandra S.;
Hum. Genet. 93:538-540(1994)
Cited for: VARIANT FHCL1 PHE-318;
Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
Santos P.C.; Morgan A.C.; Jannes C.E.; Turolla L.; Krieger J.E.; Santos R.D.; Pereira A.C.;
Cited for: VARIANTS FHCL1 TYR-160; ALA-168; LEU-177; TYR-184; GLY-221; GLN-228; LYS-228; TRP-276; TYR-285; GLY-301; PHE-318; CYS-326; SER-343; TYR-368; ASP-373; TRP-406; MET-429; ASN-492; ASP-549; HIS-564; HIS-574; TRP-595; HIS-601; LEU-685; LEU-699; MET-797 AND GLN-814;
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