Variant position: 423 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 FTNRHEVRKMTLDRSEYTSL IPNLRNVVALDTEVASNRIYW
Mouse FTNRHEVRKMTLDRSEYTSL LPNLKNVVALDTEVTNNRIYW
Rat FTNRHEVRKMTLDRSEYTSL IPNLKNVVALDTEVANNRIYW
Bovine FTNRHEVRKMTLDRSEYTSL IPNLKNVVALDTEVASNRIYW
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
420 – 423
An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.
Ekstroem U.; Abrahamson M.; Sveger T.; Lombardi P.; Nilsson-Ehle P.;
Hum. Genet. 96:147-150(1995)
Cited for: VARIANTS FH LYS-277; THR-423 AND ASN-579;
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