ABCA4 p.Met1882Val
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PMID: 12202497
[PubMed]
Fukui T et al: "ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa."
No.
Sentence
Comment
39
The IVS7-45_952delinsTCTGACC, IVS12ϩ2T3G, IVS12-50G3A, Ile604Ser, 1894delA, Glu1122Asp, Leu1583Pro, Gly1623Ser, IVS38-36delT, Met1882Val, Arg2149stop, and Phe2188Ser sequence variations were not found in the 192 normal control alleles.
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ABCA4 p.Met1882Val 12202497:39:132
status: NEW46 ABCA4 Gene Sequence Variations Nucleotide change Effect STGD (20†) Control (192†) Reference IVS7-45_952delinsTCTGACC* Splice 0 0 This study IVS12ϩ2T3G* Splice 5 0 This study IVS12-50G3A Unkown 1 0 23 T1811G Ile604Ser 1 0 This study 1894delA Frameshift 1 0 This study G3366C Glu1122Asp 1 0 This study T4748C Leu1583Pro 1 0 This study G4867A Gly1623Ser 1 0 This study IVS38-36delT Unkown 1 0 This study A5644G Met1882Val 2 0 This study G5682C Leu1894Leu 4 32 12,13,14,16,22,23 A5814G Leu1938Leu 4 32 12,14,23 IVS41-11G3A Unkown 4 32 11,14,16,23 A5844G Pro1948Pro 4 32 11,12,14,16,22,23,24,27 T6285C Asp2095Asp 3 27 11,12,14,16,23 C6445T Arg2149Stop 1 0 15 T6563C Phe2188Ser 1 0 This study * Mutations observed in patients with arRP.
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ABCA4 p.Met1882Val 12202497:46:426
status: NEW61 The IVS7-45_952delinsTCTGACC, IVS12ϩ2T3G, Ile604Ser, 1894delA Glu1122Asp, Leu1583Pro, Gly1623Ser, Met1882Val, Arg2149stop, and Phe2188Ser sequence variations were not found in the 192 normal control alleles tested, and hence these FIGURE 2.
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ABCA4 p.Met1882Val 12202497:61:104
status: NEW59 The IVS7-45_952delinsTCTGACC, IVS12af9;2T3G, Ile604Ser, 1894delA Glu1122Asp, Leu1583Pro, Gly1623Ser, Met1882Val, Arg2149stop, and Phe2188Ser sequence variations were not found in the 192 normal control alleles tested, and hence these FIGURE 2.
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ABCA4 p.Met1882Val 12202497:59:104
status: NEW