PMID: 21586796

Beers MF, Hawkins A, Shuman H, Zhao M, Newitt JL, Maguire JA, Ding W, Mulugeta S
A novel conserved targeting motif found in ABCA transporters mediates trafficking to early post-Golgi compartments.
J Lipid Res. 2011 Aug;52(8):1471-82. Epub 2011 May 17., [PubMed]
Sentences
No. Mutations Sentence Comment
166 ABCA3 p.Leu101Pro
X
ABCA3 p.Leu101Pro 21586796:166:28
status: NEW
view ABCA3 p.Leu101Pro details
Most prominent of these was L101P, which, when transfected into similar cell lines, produced profound ER retention. Login to comment
167 ABCA3 p.Leu101Pro
X
ABCA3 p.Leu101Pro 21586796:167:28
status: NEW
view ABCA3 p.Leu101Pro details
ABCA3 p.Asn568Asp
X
ABCA3 p.Asn568Asp 21586796:167:56
status: NEW
view ABCA3 p.Asn568Asp details
Most prominent of these was L101P, which, when transfected into similar cell lines, produced profound ER retention. Login to comment
168 ABCA3 p.Asn568Asp
X
ABCA3 p.Asn568Asp 21586796:168:56
status: NEW
view ABCA3 p.Asn568Asp details
In addition to this trafficking mutant, another mutant, N568D, was in fact trafficked to lysosomes but failed to concentrate NBD-phosphaty- dilcholine in this compartment. Login to comment
192 ABCA3 p.Leu101Pro
X
ABCA3 p.Leu101Pro 21586796:192:14
status: NEW
view ABCA3 p.Leu101Pro details
However, like L101P, xLxxKN mutations would naturally affect functional outcome if the transporters were held from reaching their destined compartments. Login to comment
193 ABCA3 p.Leu101Pro
X
ABCA3 p.Leu101Pro 21586796:193:14
status: NEW
view ABCA3 p.Leu101Pro details
However, like L101P, xLxxKN mutations would naturally affect functional outcome if the transporters were held from reaching their destined compartments. Login to comment