Variant position: 284 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2261 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 SLGTLAQELFSMRSWSDMRQ EVMFLTNVNSSSSSTQIYQAV
Mouse SLGGLAQELFSTKSWSDMRQ EVMFLTNVNSSSSSTQIYQAV
Slime mold -------------------- -ILFLIS--------------
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 – 2261 Phospholipid-transporting ATPase ABCA1
43 – 639 Extracellular
292 – 292 N-linked (GlcNAc...) asparagine
75 – 309
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.
Pisciotta L.; Hamilton-Craig I.; Tarugi P.; Bellocchio A.; Fasano T.; Alessandrini P.; Bon G.B.; Siepi D.; Mannarino E.; Cattin L.; Averna M.; Cefalu A.B.; Cantafora A.; Calandra S.; Bertolini S.;
Cited for: VARIANTS HDLD1 LYS-284; CYS-482; HIS-1800; SER-1901 AND HIS-2196;
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