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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99758: Variant p.Gln215Lys

Phospholipid-transporting ATPase ABCA3
Gene: ABCA3
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Variant information Variant position: help 215 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 Glutamine (Q) to Lysine (K) at position 215 (Q215K, p.Gln215Lys). 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 (Q) to large size and basic (K) 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; loss of lamellar bodies membrane location; loss of proteolytic cleavage; increases cellular free cholesterol and phosphatidylcholine transport; loss of vesicles formation; increases free cholesterol induced cell death; loss of protein oligomerization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 215 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 EPTSPDGGEPGYIREGFLAV Q HAVDRAIMEYHADAATRQLF 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                         EPTSPDGGEPGYIREGFLAVQHAVDRAIMEYHADAATRQLF

Mouse                         EPSSPDGGEPGYIREGFLAMQHAVDKAIMRYHANTSAQQLF

Rat                           EPSSPDGGEPGYIREGFLAVQHAVDKAIMHYHANASAHQLF

Slime mold                    SDSQI------YLRHYFTQIQTAVDQAIF------MAQNVE
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
Alternative sequence 210 – 1704 Missing. In isoform 2.
Helix 211 – 224



Literature citations
The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles.
Engelbrecht S.; Kaltenborn E.; Griese M.; Kern S.;
FEBS Lett. 584:4306-4312(2010)
Cited for: PROTEOLYTIC CLEAVAGE; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SMDP3 LYS-215 AND VAL-292; ABCA3 protects alveolar epithelial cells against free cholesterol induced cell death.
Zarbock R.; Kaltenborn E.; Frixel S.; Wittmann T.; Liebisch G.; Schmitz G.; Griese M.;
Biochim. Biophys. Acta 1851:987-995(2015)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS SMDP3 LYS-215 AND VAL-292; CATALYTIC ACTIVITY; Homooligomerization of ABCA3 and its functional significance.
Frixel S.; Lotz-Havla A.S.; Kern S.; Kaltenborn E.; Wittmann T.; Gersting S.W.; Muntau A.C.; Zarbock R.; Griese M.;
Int. J. Mol. Med. 38:558-566(2016)
Cited for: SUBUNIT; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SMDP3 LYS-215; CYS-280 AND LYS-288; MUTAGENESIS OF SER-693; Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.
Brasch F.; Schimanski S.; Muehlfeld C.; Barlage S.; Langmann T.; Aslanidis C.; Boettcher A.; Dada A.; Schroten H.; Mildenberger E.; Prueter E.; Ballmann M.; Ochs M.; Johnen G.; Griese M.; Schmitz G.;
Am. J. Respir. Crit. Care Med. 174:571-580(2006)
Cited for: VARIANTS SMDP3 LEU-43; LYS-215; PRO-579; GLN-605 AND 1561-ARG--ARG-1704 DEL; VARIANT LYS-288;
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.