ABCMdb

PMID: 18285826

Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jagle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Eur J Hum Genet. 2008 Jul;16(7):812-9. Epub 2008 Feb 20., [PubMed]

Sentences

No. Mutations Sentence Comment

42 ABCA4 p.Gln234* Two of the sequence variants are predicted to result in a truncated ABCA4 protein: c.700C4T constitutes an early stop mutation (p.Q234X), while the c.3539_3554del deletion leads to a frameshift and subsequent introduction of a premature termination codon after eight altered amino acid residues (p.S1181PfsX8). Login to comment 70 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Leu541Pro ABCA4 p.Cys1488Arg ABCA4 p.Val2050Leu ABCA4 p.Val643Gly ABCA4 p.Pro1380Leu ABCA4 p.Pro1486Leu ABCA4 p.Arg2077Trp ABCA4 p.Gln234* ABCA4 p.Leu244Pro ABCA4 p.Leu1940Pro ABCA4 p.Tyr245* ABCA4 p.Ala1762Asp ABCA4 p.Gln1412* ABCA4 p.Val1973* ABCA4 p.Gly1203Glu of alleles Reference Missense: 6 c.731T4Ca p.L244P 2 23 12 c.1622T4Cb p.L541P 1 5 13 c.1928T4G p.V643G 1 9 17 c.2588G4C p.G863A and p.G863del 2 4 21 c.3113C4Tb p.A1038V 1 4 25 c.3608G4A p.G1203E 1 24 28 c.4139C4T p.P1380L 2 25 30 c.4457C4T p.P1486L 1 25 30 c.4462T4C p.C1488R 1 25 37 c.5285C4A p.A1762D 1 24 41 c.5819T4C p.L1940P 1 26 42 c.5882G4A p.G1961E 1 9 45 c.6148G4C p.V2050L 1 25 45 c.6229C4T p.R2077W 1 25 Nonsense: 6 c.700C4T p.Q234X 1 This study 6 c.735T4G p.Y245X 2 24 28 c.4234C4T p.Q1412X 1 10 Deletion: 24 c.3539_3554del p.S1181PfsX8 1 This study 43 c.5917delG p.V1973X 3 27 Splice site/intronic: 26 c.5196+1G4A Splicing 1 9 34 c.4848+2T4C Splicing 1 This study 36 c.5196+1_5196+4del Splicing 1 15 39 c.5461À10T4C Unknown 8 14 40 c.5714+5G4A Splicing? Login to comment 98 ABCA4 p.Tyr245* ABCA4 p.Val1973* For example, two of our arCRD patients (RCD79/6184 and RCD113/3668) are homozygous for putative null alleles (p.Y245X and p.V1973X). Login to comment 99 ABCA4 p.Pro1380Leu ABCA4 p.Arg2077Trp ABCA4 p.Leu244Pro Another arCRD patient (RCD9/ 1989) harbours two mutations (p.P1380L and p.R2077W) which are both characterised by substantially impaired ATP-binding.32 A fourth arCRD patient (RCD92/6809) is homozygous for the missense mutation p.L244P. Login to comment 100 ABCA4 p.Leu244Pro Interestingly, a patient who is also a homozygote for p.L244P, but suffers from Stargardt disease has been described in the literature.23 Moreover, there is no higher proportion of nonsense or truncating mutations in our sample of CRD and CD patients compared with that of a cohort comprised of Stargardt patients only.27 Yet, we noted that certain mutations which are highly prevalent in Stargardt patients (recruited from a comparable population),27 for example, the c.5882G4A, the c.3113C4T, and c.2588G4C mutations were rare in our sample; in contrast, the c.5461À10T4C variant is less common in Stargardt patients. Login to comment