ABCA3 p.Leu982Asp
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 16959783
[PubMed]
Matsumura Y et al: "Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency."
No.
Sentence
Comment
131
These results indicate that the N568D, G1221S, and L1580P mutant proteins are mainly localized at the intracellular vesicle membrane accompanied by processing of oligosaccharide from high mannose type to complex type, whereas the four missense mutant (L101P, L982D, L1553P, and Q1591P) and one nonsense mutant (Ins1518fs) proteins remain localized at the ER, with impaired processing of oligosaccharide.
X
ABCA3 p.Leu982Asp 16959783:131:259
status: NEW