Variant position: 568 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1704 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 AVRDLNLNLYEGQITVLLGH NGAGKTTTLSMLTGLFPPTSG
Mouse GIRDLTLNLYEGQITVLLGH NGAGKTTTMSLLTGLFPPTSG
Rat GIRDLTLNLYEGQITVLLGH NGAGKTTTMSMLTGLFPPTSG
Slime mold AVDDLSIDMYQDRIHCFLGP NGSGKSTTIGMLTGLITCTRG
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 – 1704 Phospholipid-transporting ATPase ABCA3
175 – 1704 150 Kda mature form
530 – 763 ABC transporter 1
566 – 573 ATP 1
210 – 1704 Missing. In isoform 2.
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
Matsumura Y.; Ban N.; Ueda K.; Inagaki N.;
J. Biol. Chem. 281:34503-34514(2006)
Cited for: FUNCTION; PROTEOLYTIC CLEAVAGE; GLYCOSYLATION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SMDP3 PRO-101; ASP-568; PRO-982; SER-1221; PRO-1553; PRO-1580 AND PRO-1591; MUTAGENESIS OF GLY-1221 AND LEU-1580;
ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells.
Matsumura Y.; Sakai H.; Sasaki M.; Ban N.; Inagaki N.;
FEBS Lett. 581:3139-3144(2007)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANT SMDP3 ASP-568; SUBCELLULAR LOCATION;
Metabolic labelling of choline phospholipids probes ABCA3 transport in lamellar bodies.
Li Y.; Kinting S.; Hoeppner S.; Forstner M.E.; Uhl O.; Koletzko B.; Griese M.;
Biochim. Biophys. Acta 1864:158516-158516(2019)
Cited for: CATALYTIC ACTIVITY; FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SMDP3 ASP-568 AND PRO-1580; ACTIVITY REGULATION;
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
Shulenin S.; Nogee L.M.; Annilo T.; Wert S.E.; Whitsett J.A.; Dean M.;
N. Engl. J. Med. 350:1296-1303(2004)
Cited for: VARIANTS SMDP3 PRO-101; ASP-568; PRO-982; SER-1221; PRO-1553; PRO-1580 AND PRO-1591;
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.