ABCMdb

PMID: 11857735

Pang CP, Lam DS
Differential occurrence of mutations causative of eye diseases in the Chinese population.
Hum Mutat. 2002 Mar;19(3):189-208., [PubMed]

Sentences

No. Mutations Sentence Comment

162 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala G1961E, G863A/delG863, and A1038V together account for about 10% of ABCA4 mutations in Caucasians. Login to comment 163 ABCA4 p.Gly863Ala G863A/delG863 is likely to harbor founder effects [Maugeri et al., 1999]. Login to comment 165 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro About 20% of them have G1961E and 10% G2588C, while the L541P-A1038V complex allele appears to be a founder mutation [Rivera et al., 2000]. Login to comment 166 ABCA4 p.Thr1428Met T1428M, a rare sequence change in Caucasians, occurs in about 8% of Japanese patients [Kuroiwa et al., 1999]. Login to comment 168 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn Several studies found no significant association [Stone et al., 1998; Rivera et al., 2000; Webster et al., 2001], but the largest study to date showed a significant association of two mutations with AMD: D2177N in 1.8% of AMD cases and 0.6% of controls (p = 0.005), and G1961E in 1.6% of AMD and 0.3% of controls (p = 0.0008) [Allikmets, 2000]. Login to comment 180 ABCA4 p.Thr1428Met One patient, a 53-year-old woman, had a heterozygous splice site alteration, IVS33+1G>T, and a heterozygous missense alteration, T1428M. Login to comment 182 ABCA4 p.Arg212His ABCA4 p.Thr1572Met ABCA4 p.Ile2166Met Four other heterozygous missense sequence alterations, R212H, V143I, T1572M, I2166M, and one splice site alteration, IVS6-5T>G, were identified. Login to comment 183 ABCA4 p.Val1433Ile Of those, only V1433I has been previously described [Webster et al., 2001]. Login to comment