Sequence information
Variant position: 605 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:
PTSGRAYISGYEISQDMVQI
R KSLGLCPQHDILFDNLTVAE
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 PTSGRAYISGYEISQDMVQIR KSLGLCPQHDILFDNLTVAE
Mouse PTSGHAYIHGYEISQDMAQIR KSLGLCPQHDVLFDNLTVAE
Slime mold CTRGSALINGLDINQNIDLIR KNIGVVLQQDIIWDNLTVLE
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
Domain
530 – 763
ABC transporter 1
Glycosylation
620 – 620
N-linked (GlcNAc...) asparagine
Alternative sequence
210 – 1704
Missing. In isoform 2.
Literature citations
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.