Variant position: 416 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 GSIAYLFFTNRHEVRKMTLD RSEYTSLIPNLRNVVALDTEV
Mouse GSIGYLLFTNRHEVRKMTLD RSEYTSLLPNLKNVVALDTEV
Rat GSIGFLLFTNRHEVRKMTLD RSEYTSLIPNLKNVVALDTEV
Bovine GTIAYLFFTNRHEVRKMTLD RSEYTSLIPNLKNVVALDTEV
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
22 – 860 Low-density lipoprotein receptor
22 – 788 Extracellular
397 – 438 LDL-receptor class B 1
Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
Thiart R.; Loubser O.; de Villiers J.N.P.; Marx M.P.; Zaire R.; Raal F.J.; Kotze M.J.;
Hum. Mutat. Suppl. 1:S232-S233(1998)
Cited for: VARIANTS FHCL1 GLN-416 AND MET-429;
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