ABCMdb

PMID: 10913642

Fuse N, Suzuki T, Wada Y, Yoshida M, Shimura M, Abe T, Nakazawa M, Tamai M
Molecular genetic analysis of ABCR gene in Japanese dry form age-related macular degeneration.
Jpn J Ophthalmol. 2000 May-Jun;44(3):245-9., [PubMed]

Sentences

No. Mutations Sentence Comment

31 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn ABCA4 p.Gly863Ala ABCA4 p.Leu1970Phe ABCA4 p.Val2050Leu ABCA4 p.Arg2106Cys ABCA4 p.Arg2038Trp ABCA4 p.Leu2027Phe ABCA4 p.Ile1562Thr ABCA4 p.Arg1898His ABCA4 p.Arg1898His ABCA4 p.Glu1087Lys ABCA4 p.Val931Met ABCA4 p.Arg943Gln ABCA4 p.Arg1129Leu ABCA4 p.Arg2077Trp ABCA4 p.Glu471Lys ABCA4 p.Gly818Glu ABCA4 p.Thr1428Met ABCA4 p.Arg1517Ser ABCA4 p.Gly1578Arg ABCA4 p.Val1072Ala ABCA4 p.Ala1028Val ABCA4 p.Asn965Met Mutations Found in ABCR* Gene in 26 Exons Examined in This Study Exon AMD† Stargardt`s Disease Exon AMD Stargardt`s Disease 11 E471K 29 T1428M 15 31 R1517S 16 G818E, G863A (D847H) 33 I1562T G1578R 17 34 N1614FS 18 35 19 V931M, 2884delC N965M, (R943Q) 36 5196ϩ1G→A 5041deL15 5196ϩ2T→C 20 40 R1898H R1898H 21 A1028V 42 G1961E G1961E 22 3211insGT, V1072A E1087K 43 L1970F 6006ϩ1G→T 23 R1129L 44 L2027F, R2038W (I2023I) 24 45 V2050L, R2077W (I2083I) 25 46 R2106C (V2094V) 27 48 6519⌬11bp D2177N 6568⌬C 6519⌬11bp 6709insG *ABCR: ATP-binding cassette transporter. Login to comment 55 ABCA4 p.Thr1428Met Sequence Variations, Mutation, and Polymorphism in ABCR* Gene Detected in This Study Alteration Base Change Dry AMD† (n ϭ 25) Controls (n ϭ 40) P1116S CCC→TCC (homozygote) 25 (100%) 40 (100%) H1125L CAC→CTC (homozygote) 25 (100%) 40 (100%) Q1126L CAA→CTT (homozygote) 25 (100%) 40 (100%) T1428M ACG→ATG (heterozygote) 1 (4%) 2 (5%) Polymorphism I2083I ATC→ATT (heterozygote) 2 (8%) 0 (0%) Intron basechange Intron 33: 4773ϩ48C→T (heterozygote) 4 (16%) 4773ϩ48C→T (homozygote) 2 (8%) *ABCR: ATP-binding cassette transporter. Login to comment 58 ABCA4 p.Thr1428Met Our results showed that the incidence of the T1428M mutation was 4% in Japanese dry AMD patients, but this mutation was found more frequently (5%) in the controls. Login to comment 72 ABCA4 p.Gly1961Glu ABCA4 p.Gly863Ala ABCA4 p.Arg1898His It was reported that four mutations found in AMD patients (R1898H, G1961E, 6519del11, and G863A) were also found in patients with Stargardt`s disease.14 In our study, only one polymorphism (I2083I) was found. Login to comment