Variant position: 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 308 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 RDKASQEGGDVLGARQDCTP SLKSLVATGNLLDLEETAKAP
Mouse REKANQEGGDVPGTRRDSTP SLKTLVATGNLLDLEEVAKAP
Rat REKANQEGGDVPGTRRDSTP SLKTSVATGNLLDLEELAKAP
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
1 – 308 Low density lipoprotein receptor adapter protein 1
186 – 186 Phosphoserine
202 – 202 Phosphoserine
214 – 214 D -> A. Abolishes clathrin binding.
216 – 216 E -> A. Abolishes clathrin binding.
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
Garcia C.K.; Wilund K.R.; Arca M.; Zuliani G.; Fellin R.; Maioli M.; Calandra S.; Bertolini S.; Cossu F.; Grishin N.; Barnes R.; Cohen J.C.; Hobbs H.H.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-202; VARIANT ARH HIS-202;
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