ABCA4 p.Ile2166Met
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PMID: 12592048
[PubMed]
Baum L et al: "ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease."
No.
Sentence
Comment
3
Sequence alterations R212H, T1428M, V1433I, T1572M, I2166M, IVS6-5T1G and IVS33+1G1T were found in AMD patients.
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ABCA4 p.Ile2166Met 12592048:3:52
status: NEW18 ABCA4 protein or splice sequence alterations in AMD and normal controls Sequence change AMD (140) Normal (95) Reports R212H 1 (1%) 1 (1%) polymorphism [18, 24] IVS6-5T1G 1 (1%) 0 (0%) novel T1428M 18 (13%) 15 (16%) rare in AMD [15] or common polymorphism [17] V1433I 1 (1%) 1 (1%) 1/150 STGD families and 0/220 normal controls [14]; 1/182 AMD, 0/96 normal controls and 0/374 STGD [38]; not segregated with AMD in families [13] T1572M 1 (1%) 1 (1%) novel IVS33+1G1T 1 (1%) 0 (0%) novel I2166M 2 (1%) 1 (1%) novel Table 2.
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ABCA4 p.Ile2166Met 12592048:18:485
status: NEW43 T1572M and I2166M have not previously been reported.
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ABCA4 p.Ile2166Met 12592048:43:11
status: NEW
PMID: 11857735
[PubMed]
Pang CP et al: "Differential occurrence of mutations causative of eye diseases in the Chinese population."
No.
Sentence
Comment
182
Four other heterozygous missense sequence alterations, R212H, V143I, T1572M, I2166M, and one splice site alteration, IVS6-5T>G, were identified.
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ABCA4 p.Ile2166Met 11857735:182:77
status: NEW