ABCMdb

PMID: 9843201

Stone EM, Webster AR, Vandenburgh K, Streb LM, Hockey RR, Lotery AJ, Sheffield VC
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration.
Nat Genet. 1998 Dec;20(4):328-9., [PubMed]

Sentences

No. Mutations Sentence Comment

23 ABCA4 p.Asn1868Ile ABCA4 p.Arg943Gln ABCA4 p.Ser2255Ile The 3 common variants (Asn1868Ile, Arg943Gln and Ser2255Ile) were all present in more than 4% of all 3 groups. Login to comment 69 ABCA4 p.Asn1868Ile ABCA4 p.Arg943Gln ABCA4 p.Ser2255Ile Three non-conservative variants (Asn1868Ile, Arg943Gln and Ser2255Ile) were very common (>4%) in all three groups. Login to comment 77 ABCA4 p.Thr901Ala ABCA4 p.Pro1314Thr In our experiment, we screened all the study participants equally and we did observe 2 variants (Pro1314Thr and Thr901Ala) that were each present in only a single control subject. Login to comment 78 ABCA4 p.Asn1868Ile Neither of these changes was detected by Dean et al. nor did they detect a very common (15.8% overall in our study) non-conservative sequence change in exon 40 (Asn1868Ile). Login to comment