ABCMdb

PMID: 16540294

Kaminski WE, Piehler A, Wenzel JJ
ABC A-subfamily transporters: structure, function and disease.
Biochim Biophys Acta. 2006 May;1762(5):510-24. Epub 2006 Feb 28., [PubMed]

Sentences

No. Mutations Sentence Comment

80 ABCA1 p.Arg219Lys On the other hand, one dimorphism in the ABCA1 gene, R219K, appears to exert atheroprotective effects [30]. Login to comment 162 ABCA3 p.Glu292Val Intriguingly, in three out of four patients with the histological diagnosis of desquamative interstitial peumonitis, who were older than 10 years at the time of enrollment, heterozygosity for a novel missense mutation (E292V) was found. Login to comment 163 ABCA3 p.Glu292Val Heterozygosity for the E292V mutation was detected in seven additional patients and in eight of the ten patients a second, distinct mutation was identified on the other ABCA3 allele. Login to comment 178 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala Interestingly, some mutant alleles such as G863A, A1038V, and G1961E, respectively, appear to be more common and may have altered frequencies in different populations, presumably as a result of a founder effect [76,80]. Login to comment 180 ABCA4 p.Arg1300* ABCA4 p.Tyr362* For example, the homozygous frameshift mutation 5917delG is associated with a relatively severe STGD phenotype and the truncating mutations Y362X and R1300X, respectively, are associated with milder clinical symptoms [77,81]. Login to comment 188 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn This was supported by the observation that the frequency of two common ABCA4 variants, G1961E and D2177N, in 1200 patients with AMD is significantly higher (3.4%) than that of controls (0.95%) [88]. Login to comment