Sequence information
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:
AVDGLALNFYEGQITSFLGH
N GAGKTTTMSILTGLFPPTSG
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 AVDGLALNFYEGQITSFLGHN GAGKTTTMSILTGLFPPTSG
Mouse AVDGLALNFYEGQITSFLGHN GAGKTTTMSILTGLFPPTSG
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
Domain
899 – 1131
ABC transporter 1
Nucleotide binding
933 – 940
ATP 1
Mutagenesis
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.
Literature citations
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
Quazi F.; Molday R.S.;
J. Biol. Chem. 288:34414-34426(2013)
Cited for: CATALYTIC ACTIVITY; ACTIVITY REGULATION; MUTAGENESIS OF SER-100; PHE-593; LYS-939; THR-1512 AND LYS-1952; FUNCTION; VARIANTS TGD SER-590; ILE-929; SER-935; ARG-1477 AND TRP-2081; CHARACTERIZATION OF VARIANTS TGD SER-590; ILE-929; SER-935; ARG-1477 AND TRP-2081; VARIANT FHA1 LEU-2150; CHARACTERIZATION OF VARIANT FHA1 LEU-2150; SUBCELLULAR LOCATION;
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
Bodzioch M.; Orso E.; Klucken J.; Langmann T.; Boettcher A.; Diederich W.; Drobnik W.; Barlage S.; Buechler C.; Porsch-Oezcueruemez M.; Kaminski W.E.; Hahmann H.W.; Oette K.; Rothe G.; Aslanidis C.; Lackner K.J.; Schmitz G.;
Nat. Genet. 22:347-351(1999)
Cited for: VARIANTS TGD SER-590; SER-935 AND VAL-937; VARIANTS ALA-399 AND MET-883;
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 TGD HIS-935 AND SER-935;
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.