Sequence information
Variant position: 395 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:
SFLDPGSGGYSWQDAHADVG
H LVGTLGRVTECLSLDKLEAA
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 SFLDPGSGGYSWQDAHADVGH LVGTLGRVTECLSLDKLEAA
Mouse DFLDPSRGGYSWREAHADMGR LAGILGQMMECVSLDKLEAV
Rat DFLDPSRGRYNWQEAHADMGR LAEILGQILECVSLDKLEAV
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
Chain
1 – 2146
Phospholipid-transporting ATPase ABCA7
Topological domain
43 – 549
Extracellular
Literature citations
Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.
Iida A.; Saito S.; Sekine A.; Mishima C.; Kitamura Y.; Kondo K.; Harigae S.; Osawa S.; Nakamura Y.;
J. Hum. Genet. 47:285-310(2002)
Cited for: VARIANTS GLY-188; ALA-319; ARG-395; HIS-463; THR-718; GLN-1349; ARG-1686 AND SER-2045;
Disclaimer:
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.