ABCB6 p.Ala57Thr
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Comment
5
Sequence analysis was performed on the ABCB6 exons from 116 sporadic cases of microphthalmia with coloboma (MAC), isolated coloboma, and aniridia, and an additional mutation (A57T) was identified in three patients with MAC.
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ABCB6 p.Ala57Thr 22226084:5:175
status: NEW32 (F-H) Two mutations in ABCB6 and their sequencing tracing, including Leu811Val (F) in the Chinese family affected by coloboma and Ala57Thr (G) in the three Indian patients who have microphthalmia and coloboma.
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ABCB6 p.Ala57Thr 22226084:32:130
status: NEW64 The Leu811Val and Ala57Thr mutations were introduced into the WT ABCB6 pcDNA3.1(þ)/Myc-His A construct by PCR-based site-directed mutagenesis.
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ABCB6 p.Ala57Thr 22226084:64:18
status: NEW97 169 G>A), and the nucleotide change resulted in an alanine to threonine amino acid change at position 57 (Ala57Thr) of ABCB6 (Figure 1G).
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ABCB6 p.Ala57Thr 22226084:97:106
status: NEW140 Transcription factors such as PAX6, SOX2, OTX2, RAX, and SIX3 interact and provide transcriptional oversight to other coloboma-associated mutations in genes that play a pivotal role in spatial and temporal development of the eye.8,10-12,15,19 Here, we identified two mutations (Leu811Val and Ala57Thr) in ABCB6.
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ABCB6 p.Ala57Thr 22226084:140:292
status: NEW154 These phenotypes can be rescued by the coinjection of WT ABCB6 mRNA (G and H), but the phenotypes could not be rescued by coinjection of the human mRNA containing either the Leu811Val (I and J) or the Ala57Thr (K and L) mutation.
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ABCB6 p.Ala57Thr 22226084:154:201
status: NEW
PMID: 24224009
[PubMed]
Cui YX et al: "Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria."
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133
Heterozygous missense mutations (p.L811V and p.A57T) in ABCB6 caused iris coloboma, aniridia, chorioretinal coloboma [14].
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ABCB6 p.Ala57Thr 24224009:133:47
status: NEW
PMID: 24498303
[PubMed]
Liu H et al: "Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria."
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66
Discussion A recent publication showed that two missense mutations of ABCB6 (c.2431C.G; p.Leu811Val and c.169G.A; p.Ala57Thr) caused ocular coloboma [10].
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ABCB6 p.Ala57Thr 24498303:66:116
status: NEW82 The two DUH mutations lie in the ABC transmembrane domain, whereas one coloboma mutation (c.2431C.G; p.Leu811Val) located in the transporter-like domain, and the other one (c.169G.A; p.Ala57Thr) did not lie in any established domain (Figure 2 C).
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ABCB6 p.Ala57Thr 24498303:82:185
status: NEW103 C: ABCB6 exon structure, where c.964A.C; p.S322L and c.1358C.T; p.A453V are DUH mutations identified in this paper, c.169G.A; p.A57T and c.2431C.G; p.L811V are coloboma mutations7 .
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ABCB6 p.Ala57Thr 24498303:103:128
status: NEW
PMID: 25288164
[PubMed]
Lu C et al: "Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria."
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Comment
41
Missense mutations in ABCB6 can cause dominant familial pseudohyperkalemia (p.R375Q) [9] and ocular coloboma (p.A57T and L811V) [10].
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ABCB6 p.Ala57Thr 25288164:41:112
status: NEW