ABCA4 p.Arg2040*
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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
4
T1428M and R2040X occurred in STGD patients.
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ABCA4 p.Arg2040* 12592048:4:11
status: NEW19 ABCA4 protein sequence alterations in STGD and normal controls STGD (18) Normal (95) Reports T1428M 2 (11%) 15 (16%) rare in AMD [15] or common polymorphism [17] R2040X 2 (11%) 0 (0%) novel, but nearby truncations in STGD [14] to explore the possible link between ABCA4 alterations and AMD in a previously unexamined ethnic group, we selected 15 exons which had been reported to contain a high proportion of the known ABCA4 sequence changes in STGD and AMD [13, 15, 17, 19, 21], and we examined these exon coding regions and their splice sites for sequence changes in 140 AMD, 18 STGD and 95 elderly normal control subjects who were all unrelated Hong Kong residents, as well as in family members of some patients.
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ABCA4 p.Arg2040* 12592048:19:162
status: NEW35 In STGD, R2040X was detected in 2 patients but not in controls (table 2).
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ABCA4 p.Arg2040* 12592048:35:9
status: NEW
PMID: 24763286
[PubMed]
Zhang X et al: "Molecular diagnosis of putative Stargardt disease by capture next generation sequencing."
No.
Sentence
Comment
142
One previous study of STGD in the Chinese population, screened part of ABCA4 coding sequence (15 exons) and identified two relatively common mutations: T1428M and R2040X [21].
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ABCA4 p.Arg2040* 24763286:142:163
status: NEW