ABCMdb

ABCA4 p.Glu2119Lys

None has been submitted yet.

Publications

PMID: 15161829 [PubMed] September AV et al: "Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease."

No. Sentence Comment

114 The 14 Non-Disease-Causing Sequence Variants Identified in the Study Nucleotide Change Amino Acid Change Families (n ‫؍‬ 64) G1009C E310Q 2 G989A G330D 1 IVS18-38⌬G - 3 G2828A R943Q 6 C4184T P1395L 1 IVS27-71T3A - 1 IVS28-38G3A - 1 IVS38-10T3C - 1 IVS39-17T3A - 1 G5682C L1894L 1 TG5925CA L1984L 2 IVS43-16G3A - 3 C6329T 12083I 1 G6355A E2119K 2 other ABCA4 studies in which similar mutation screening methods were used.10,11,26 -28 Methods such as direct sequencing of all arSTGD probands in other studies have, however, identified approximately 66% to 80% of ABCA4-associated STGD chromosomes.13,14 The SSCP-HD mutation screening method used in this study has a reported sensitivity of 97%.17 It is possible that allelic mutations have been missed because (1) of the sensitivity of the method used, or (2) the unidentified mutations may reside in parts of the gene-for example, the promotor or regulatory regions that have not yet been screened. Login to comment