Sequence information
Variant position: 1114 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:
GRKGFDIALNLLFAMAFLAS
T FSILAVSERAVQAKHVQFVS
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 GRKGFDIALNLLFAMAFLAST FSILAVSERAVQAKHVQFVS
Mouse GRKGFDIALNLLIAMAFLAST FSILAVSERAVQAKHVQFVS
Slime mold SAIIFFIILTLA-AFALVVAS HAGNIAQERAARIKRLLYIS
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
Transmembrane
1100 – 1120
Helical
Alternative sequence
210 – 1704
Missing. In isoform 2.
Literature citations
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.