Sequence information
Variant position: 85 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:
GTLPWVQGIICNANNPCFRY
P TPGEAPGVVGNFNKSIVARL
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 GTLPWVQGIICNANNPCFRYP TPGEAPGVVGNFNKSIVARL
Mouse GTLPWVQGIICNANNPCFRYP TPGEAPGVVGNFNKSIVSRL
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 – 2261
Phospholipid-transporting ATPase ABCA1
Topological domain
43 – 639
Extracellular
Glycosylation
98 – 98
N-linked (GlcNAc...) asparagine
Disulfide bond
75 – 309
Mutagenesis
100 – 100
S -> C. Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
Literature citations
ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease.
Hong S.H.; Rhyne J.; Zeller K.; Miller M.;
Atherosclerosis 164:245-250(2002)
Cited for: VARIANT FHA1 LEU-85;
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.