Variant position: 1527 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2146 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 AHSITTLNHPLNLTKEQLSE GALMASSVDVLVSICVVFAMS
Mouse AHSITTLNHPLNLTKEQLSE ATLIASSVDVLVSICVVFAMS
Rat AHSITTLNHPLNLTKEQLSE ATLIASSVDVLVSICVVFAMS
Slime mold -------------------- ---------------------
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 – 2146 Phospholipid-transporting ATPase ABCA7
1264 – 1537 Extracellular
Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7).
Kaminski W.E.; Orso E.; Diederich W.; Klucken J.; Drobnik W.; Schmitz G.;
Biochem. Biophys. Res. Commun. 273:532-538(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLN-1349; ALA-1527 AND SER-2045; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; INDUCTION;
Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene.
Kaminski W.E.; Piehler A.; Schmitz G.;
Biochem. Biophys. Res. Commun. 278:782-789(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-1527;
Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjogren's Syndrome.
Tanaka A.R.; Ikeda Y.; Abe-Dohmae S.; Arakawa R.; Sadanami K.; Kidera A.; Nakagawa S.; Nagase T.; Aoki R.; Kioka N.; Amachi T.; Yokoyama S.; Ueda K.;
Biochem. Biophys. Res. Commun. 283:1019-1025(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS GLN-1349; ALA-1527 AND SER-2045;
Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter.
Broccardo C.; Osorio J.; Luciani M.-F.; Schriml L.M.; Prades C.; Shulenin S.; Arnould I.; Naudin L.; Lafargue C.; Rosier M.; Jordan B.; Mattei M.-G.; Dean M.; Denefle P.; Chimini G.;
Cytogenet. Cell Genet. 92:264-270(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLY-188; ALA-1527 AND SER-2045; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE;
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.