UniProtKB/Swiss-Prot Q99758: Variant p.Glu292Val

Phospholipid-transporting ATPase ABCA3
Gene: ABCA3
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Variant information Variant position:

292 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glutamate (E) to Valine (V) at position 292 (E292V, p.Glu292Val). 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 acidic (E) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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; uncertain significance; does not affect lamellar bodies membrane location; does not affect proteolytic cleavage; affects lamellar bodies formation; does not affect cholesterol and phosphatidylcholine transport; decreases vesicles formation; does not affect free cholesterol induced cell death. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs149989682 [ dbSNP | Ensembl ]

Sequence information Variant position:

292 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:

TYTALTIARAVVQEKERRLK E YMRMMGLSSWLHWSAWFLLF 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                         TYTALTIARAVVQEKERRLKEYMRMMGLSSWLHWSAWFLLF

Mouse                         TYTSLTIIRAVVQEKEKKLKEYMRMMGLNSWLHWSAWFLMF

Rat                           TYTSLTIIRAVVQEKEKKLKEYMRMMGLSSWLHWSAWFLMF

Slime mold                    FVGLFTTITNMVMEKESKILEAMKIMGLHS--------LPY

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 – 1704	Phospholipid-transporting ATPase ABCA3
Chain	175 – 1704	150 Kda mature form
Alternative sequence	210 – 1704	Missing. In isoform 2.
Helix	290 – 295

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; Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter.
Hoeppner S.; Kinting S.; Torrano A.A.; Schindlbeck U.; Braeuchle C.; Zarbock R.; Wittmann T.; Griese M.;
Biochim. Biophys. Acta 1864:2330-2335(2017)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS SMDP3 VAL-292 AND ASN-1388; ABCA3 mutations associated with pediatric interstitial lung disease.
Bullard J.E.; Wert S.E.; Whitsett J.A.; Dean M.; Nogee L.M.;
Am. J. Respir. Crit. Care Med. 172:1026-1031(2005)
Cited for: VARIANTS SMDP3 VAL-292; LYS-690; LYS-1076; MET-1114; LEU-1301 AND GLU-1302;

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.