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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99758: Variant p.Asn568Asp

Phospholipid-transporting ATPase ABCA3
Gene: ABCA3
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Variant information Variant position: help 568 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Asparagine (N) to Aspartate (D) at position 568 (N568D, p.Asn568Asp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (N) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SMDP3; does not affect location in intracellular vesicle membrane; does not affect proteolytic cleavage; does not affect N-glycosylation; loss of ATP hydrolysis activity; decreases ATP binding in vitro; does not affect protein expression; does not affect multivesicular bodies and lamellar bodies location; affects multivesicular bodies and lamellar bodies development; loss of phosphatidylcholine transport; does not affect cholesterol transport. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 568 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1704 The length of the canonical sequence.
Location on the sequence: help AVRDLNLNLYEGQITVLLGH N GAGKTTTLSMLTGLFPPTSG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AVRDLNLNLYEGQITVLLGHNGAGKTTTLSMLTGLFPPTSG

Mouse                         GIRDLTLNLYEGQITVLLGHNGAGKTTTMSLLTGLFPPTSG

Rat                           GIRDLTLNLYEGQITVLLGHNGAGKTTTMSMLTGLFPPTSG

Slime mold                    AVDDLSIDMYQDRIHCFLGPNGSGKSTTIGMLTGLITCTRG
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1704 Phospholipid-transporting ATPase ABCA3
Chain 175 – 1704 150 Kda mature form
Domain 530 – 763 ABC transporter 1
Binding site 566 – 573
Alternative sequence 210 – 1704 Missing. In isoform 2.
Beta strand 568 – 574



Literature citations
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;
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.