PMID: 20419437

Westerfeld C
ABC transporters in ophthalmic disease.
Methods Mol Biol. 2010;637:221-30., [PubMed]
Sentences
No. Mutations Sentence Comment
38 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20419437:38:50
status: NEW
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ABCA4 p.Ala1038Val
X
ABCA4 p.Ala1038Val 20419437:38:38
status: NEW
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ABCA4 p.Gly863Ala
X
ABCA4 p.Gly863Ala 20419437:38:31
status: NEW
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 Certain mutant alleles such as G863A, A1038V, and G1961E cause Stargardt`s disease and appear to be more common and may have altered frequencies in different populations, presumably because of founder effect (23, 24). Login to comment 95 ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 20419437:95:102
status: NEW
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ABCA4 p.Asp2177Asn
X
ABCA4 p.Asp2177Asn 20419437:95:91
status: NEW
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 A 15-center meta-analysis of the published data on the two most common ABCA4 variants, the D2177N and G1961E alleles, found the two variants to be present in 3.4% of patients with AMD in comparison to 0.95% of controls (39). Login to comment 108 ABCA4 p.Arg1300*
X
ABCA4 p.Arg1300* 20419437:108:50
status: NEW
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ABCA4 p.Tyr362*
X
ABCA4 p.Tyr362* 20419437:108:40
status: NEW
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 Alternatively, the truncating mutations Y362X and R1300X are associated with milder clinical symptoms (26, 37). Login to comment