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UniProtKB/Swiss-Prot Q99758: Variant p.Asn568Asp

Phospholipid-transporting ATPase ABCA3
Gene: ABCA3
Variant information

Variant position:  568
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  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:  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:  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:  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:  
Links to websites of interest for the variant.



Sequence information

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:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         AVRDLNLNLYEGQITVLLGHNGAGKTTTLSMLTGLFPPTSG

Mouse                         GIRDLTLNLYEGQITVLLGHNGAGKTTTMSLLTGLFPPTSG

Slime mold                    AVDDLSIDMYQDRIHCFLGPNGSGKSTTIGMLTGLITCTRG

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.

TypePositionsDescription
Chain 1 – 1704 Phospholipid-transporting ATPase ABCA3
Chain 175 – 1704 150 Kda mature form
Domain 530 – 763 ABC transporter 1
Nucleotide binding 566 – 573 ATP 1
Alternative sequence 210 – 1704 Missing. In isoform 2.


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.