Variant position: 935 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 AVDGLALNFYEGQITSFLGH NGAGKTTTMSILTGLFPPTSG
Mouse AVDGLALNFYEGQITSFLGH NGAGKTTTMSILTGLFPPTSG
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 – 2261 Phospholipid-transporting ATPase ABCA1
899 – 1131 ABC transporter 1
933 – 940 ATP 1
939 – 939 K -> M. Inhibits ATPase activity; when associated with M-1952. Decreases translocase activity; when associated with M-1952. Does not affect protein subcellular localization in plasma membrane and endosome; when associated with M-1952.
Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease.
Guo Z.; Inazu A.; Yu W.; Suzumura T.; Okamoto M.; Nohara A.; Higashikata T.; Sano R.; Wakasugi K.; Hayakawa T.; Yoshida K.; Suehiro T.; Schmitz G.; Mabuchi H.;
J. Hum. Genet. 47:325-329(2002)
Cited for: VARIANTS HDLD1 HIS-935 AND SER-935;
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