Variant position: 1388 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 ILAPSPDSLLHTPLIIKELS KVYEQRVPL---LAVDRLSLAVQK
Mouse ILVPSLDSMLDTPLIINELS KVYDQRAPL---LAVDRISLA
Rat VLVPSLDSMLDTPLIINELS KVYDQRAPL---LAVDRISLA
Slime mold VLSFETS---NDPIIMRDFF KLYKGKGKAKDNLAVYNTSLS
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
1381 – 1614 ABC transporter 2
210 – 1704 Missing. In isoform 2.
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;
Tools to explore ABCA3 mutations causing interstitial lung disease.
Wittmann T.; Schindlbeck U.; Hoeppner S.; Kinting S.; Frixel S.; Kroener C.; Liebisch G.; Hegermann J.; Aslanidis C.; Brasch F.; Reu S.; Lasch P.; Zarbock R.; Griese M.;
Pediatr. Pulmonol. 51:1284-1294(2016)
Cited for: VARIANT SMDP3 ASN-1388; CHARACTERIZATION OF VARIANT SMDP3 ASN-1388; PROTEOLYTIC CLEAVAGE; GLYCOSYLATION; SUBCELLULAR LOCATION; FUNCTION; CATALYTIC ACTIVITY;
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.