Variant position: 280 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 QYQLPLLLLLSFTYTALTIA RAVVQEKERRLKEYMRMMGLS
Mouse QYQLPLLLMLSFTYTSLTII RAVVQEKEKKLKEYMRMMGLN
Slime mold KETGGIFITAAIFVGLFTTI TNMVMEKESKILEAMKIMGLH
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
261 – 283 Helical
210 – 1704 Missing. In isoform 2.
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;
Respiratory failure in a term infant with cis and trans mutations in ABCA3.
Jackson T.; Wegner D.J.; White F.V.; Hamvas A.; Cole F.S.; Wambach J.A.;
J. Perinatol. 35:231-232(2015)
Cited for: VARIANTS SMDP3 CYS-280; MET-1399 AND 1589-GLN--ARG-1704 DEL;
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.