ABCMdb

PMID: 11973624

Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzalez-Duarte R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers FP
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
Eur J Hum Genet. 2002 Mar;10(3):197-203., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCA4 p.Gly863Ala Recently, functional studies23 clearly demonstrated that both the DG863 and G863A variant impair ABCR protein function. Login to comment 38 ABCA4 p.Arg943Gln Haplotype analysis in 16 families segregating the 2588G4C mutation, showed four intragenic polymorphisms, ie 2828G4A (R943Q), 4203C4A (P1401P), 5603A4T Table 1 Occurrence of the 2588G4C ABCA4 mutation in 11 European countries and the US Controls STGDa No. 2588C alleles/No. chromosomes (%) Carrier frequency No. 2588C alleles/No. chromosomes (%) Sweden 11 out of 394 (2.8) 1 out of 18 The Netherlands 9 out of 622 (1.4)b 1 out of 35 22 out of 126 (17.5) Estonia 4 out of 390 (1.0) 1 out of 49 Denmark 2 out of 200 (1.0) 1 out of 50 10 out of 98 (10.2) Italy 4 out of 400 (1.0) 1 out of 50 Germany 5 out of 672 (0.7) 1 out of 67 21 out of 310 (6.8) France 3 out of 434 (0.7) 1 out of 72 7 out of 254 (2.8) UK 2 out of 352 (0.6)c 1 out of 88 5 out of 140 (3.6)c Belgium 2 out of 406 (0.5) 1 out of 102 Spain 1 out of 418 (0.2)d 1 out of 209 Portugal 0 out of 398 (0.0) 0 out of 199 Total Europe 43 out of 4686 (0.9) 1 out of 54 65 out of 928 (7.0) US 2 out of 482 (0.4) 1 out of 121 11 out of 300 (3.7)e a Frequencies were calculated only when more than 80 chromosomes were analysed. Login to comment 41 ABCA4 p.Asn1868Ile (N1868I) and 5682G4C (L1894L), invariably present in all 16 disease chromosomes, whether from the Netherlands, Germany or Sweden (Figure 2). Login to comment 79 ABCA4 p.Gly863Ala As mentioned before, functional studies have shown unequivocally a biochemical defect for both the G863A and the DG863 variants of the ABCR protein. Login to comment 80 ABCA4 p.Gly863Ala As mentioned before, functional studies have shown unequivocally a biochemical defect for both the G863A and the DG863 variants of the ABCR protein. Login to comment 88 ABCA4 p.Asn1868Ile Interestingly, functional studies23 showed a small but reproducible decrease in ATPase activity, relative to wild type, for the N1868I (5603A4T) protein. Login to comment 89 ABCA4 p.Asn1868Ile Interestingly, functional studies23 showed a small but reproducible decrease in ATPase activity, relative to wild type, for the N1868I (5603A4T) protein. Login to comment