ABCA4 p.Ala1028Val
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PMID: 10913642
[PubMed]
Fuse N et al: "Molecular genetic analysis of ABCR gene in Japanese dry form age-related macular degeneration."
No.
Sentence
Comment
31
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.
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ABCA4 p.Ala1028Val 10913642:31:340
status: NEW
PMID: 9466990
[PubMed]
Cremers FP et al: "Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR."
No.
Sentence
Comment
106
STGD patient 8439 carries a C!T transition at nucleotide position 3113, resulting in an Ala1038Val mutation in the predicted ABCR protein (Table 1).
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ABCA4 p.Ala1028Val 9466990:106:52
status: NEW108 This mutation was previously erroneously designated Ala1028Val (18; R.Allikmets, personal communication).
X
ABCA4 p.Ala1028Val 9466990:108:52
status: NEW