ABCMdb

PMID: 11594993

Eksandh L, Ekstrom U, Abrahamson M, Bauer B, Andreasson S
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
Acta Ophthalmol Scand. 2001 Oct;79(5):524-30., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCA4 p.Thr972Asn This point mutation causes the amino acid substitution T972N in the ABCR protein. Login to comment 9 ABCA4 p.Thr972Asn One possible molecular explanation to the different clinical expressions may be the T972N substitution present in the ABCR protein in one of the STGD1 families investigated. Login to comment 96 ABCA4 p.Asn1868Ile Of these, the two in exon 40 (5603A»T causing the substitution N1868I and the sense mutation 5682G»C in the codon for Leu1894) could be excluded as disease-associated since they were found in both alleles of the gene from the asymptomatic mother in one of the families. Login to comment 98 ABCA4 p.Pro1948Leu ABCA4 p.Arg943Gln So have the alterations found in exon 42, 5843CA»TG causing the substitution P1948L, and the 2828G»A mutation in exon 19 causing R943Q at the protein level (Table 3). Login to comment 102 ABCA4 p.Thr972Asn The resulting T972N substitution is located within one of the two ATP-binding domains of the ABCR protein (Lewis et al. 1999). Login to comment 111 ABCA4 p.Thr972Asn ABCA4 p.Arg943Gln DNA AII:1 AII:2 BII:1 BII:2 Locus alteration Effect STGD STGD AI:1 AI:2 STGD STGD BI:1 BI:2 Comments In 18 IVS18-38delC ª delC/delC delC/delC delC/delC DelC/delC delC/delC delC/delC delC/delC delC/delC Ex 19 2828G-ϾA R943Q G/A G/A G/G G/A G/G G/G G/G G/G Polymorphism1 Ex 19 2915C-ϾA T972N C/C C/C C/C C/C C/A C/A C/C C/A Disease-associated? Login to comment 113 ABCA4 p.Asn1868Ile Ex 40 5603A-ϾT N1868I A/A A/A A/A A/A A/T A/T A/A T/T Asympt. mother homozygous. Login to comment 115 ABCA4 p.Pro1948Leu Polymorphism3 In 41 IVS41-40C-ϾA ª C/A C/A C/C C/A C/C C/C C/C C/C Polymorphism In 41 IVS41-37insCT ª insCT/ insCT/ insCT/ InsCT/ insCT/ insCT/ insCT/ insCT/ insCT insCT insCT insCT insCT insCT insCT insCT In 41 IVS41-16 insT - insT/insT insT/insT insT/insT InsT/insT insT/insT insT/insT insT/insT insT/insT In 41 IVS41-11G-ϾA ª G/A G/A G/G G/A G/G G/G G/G G/G Polymorphism4 Ex 42 5843CA-ϾTG P1948L CA/TG CA/TG CA/CA CA/TG CA/CA CA/CA CA/CA CA/CA Polymorphism2 1 As reported in Allikmets et al. 1997a; Maugeri et al. 2000; Papaiannou et al. 2000; Rivera et al. 2000. Login to comment 156 ABCA4 p.Thr972Asn The missense mutation C»A at nucleotide 2915 in exon 19, giving rise to the amino acid substitution T972N, was detected in one of the index cases examined (Family B; B II:1). Login to comment 161 ABCA4 p.Thr971Asn A substitution of the preceding residue, T971N, has been reported for a STGD1 patient in a previous study (Sun et al. 2000). Login to comment 168 ABCA4 p.Thr972Asn One possible molecular explanation to the different clinical expression may be the T972N substitution present in the ABCR protein in one of the STGD1 families investigated. Login to comment