ABCMdb

PMID: 19056738

Zhong M, Molday LL, Molday RS
Role of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases.
J Biol Chem. 2009 Feb 6;284(6):3640-9. Epub 2008 Dec 4., [PubMed]

Sentences

No. Mutations Sentence Comment

259 ABCA4 p.Arg212Cys A patient with cone-rod dystrophy was reported to be compound heterozygous for a 6730-16del44 mutation, which causes the loss in the C-terminal 29 amino acids of ABCA4, including the VFVNFA motif and a R212C missense mutation (26). Login to comment 260 ABCA4 p.Arg212Cys A patient with cone-rod dystrophy was reported to be compound heterozygous for a 6730-16del44 mutation, which causes the loss in the C-terminal 29 amino acids of ABCA4, including the VFVNFA motif and a R212C missense mutation (26). Login to comment 261 ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys A patient with cone-rod dystrophy was reported to be compound heterozygous for a 6730-16del44 mutation, which causes the loss in the C-terminal 29 amino acids of ABCA4, including the VFVNFA motif and a R212C missense mutation (26). Login to comment 262 ABCA4 p.Arg212Cys The R212C missense mutation appears to retain some of its activity at least with respect to azido-ATP photoaffinity labeling (21). Login to comment 263 ABCA4 p.Arg212Cys The R212C missense mutation appears to retain some of its activity at least with respect to azido-ATP photoaffinity labeling (21). Login to comment