Variant position: 1648 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 GITAFNHPLNLTKQQLSEVA LMTTSVDVLVSICVIFAMSFV
Mouse GITAFNHPLNLTKQQLSEVA LMTTSVDVLVSICVIFAMSFV
Slime mold GLS----------------- ---------------------
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
1372 – 1656 Extracellular
1637 – 1637 N-linked (GlcNAc...) asparagine
Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages.
Langmann T.; Klucken J.; Reil M.; Liebisch G.; Luciani M.-F.; Chimini G.; Kaminski W.E.; Schmitz G.;
Biochem. Biophys. Res. Commun. 257:29-33(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 21-2261; VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168;
Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.
Rust S.; Rosier M.; Funke H.; Real J.; Amoura Z.; Piette J.-C.; Deleuze J.-F.; Brewer H.B. Jr.; Duverger N.; Denefle P.; Assmann G.;
Nat. Genet. 22:352-355(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 21-2261; VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.