ABCMdb

ABCB6 p.Leu811Val

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Publications

PMID: 22226084 [PubMed] Wang L et al: "ABCB6 mutations cause ocular coloboma."

No. Sentence Comment

3 The Leu811Val mutation was identified in seven affected members of the family and was absent in six unaffected members from three generations. Login to comment
28 Mutations in ABCB6 and Clinical Photographs of Patients with Coloboma (A) Pedigree and segregation of the Leu811Val mutation in the Chinese family affected by coloboma. Login to comment
32 (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. Login to comment
64 The Leu811Val and Ala57Thr mutations were introduced into the WT ABCB6 pcDNA3.1(þ)/Myc-His A construct by PCR-based site-directed mutagenesis. Login to comment
87 The nucleotide alteration results in a change of leucine to valine at position 811 (Leu811Val) of ABCB6 (Figure 1F). Login to comment
140 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. Login to comment
154 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. Login to comment

PMID: 24224009 [PubMed] Cui YX et al: "Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria."

No. Sentence Comment

133 Heterozygous missense mutations (p.L811V and p.A57T) in ABCB6 caused iris coloboma, aniridia, chorioretinal coloboma [14]. Login to comment

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."

No. Sentence Comment

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]. Login to comment
82 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). Login to comment
103 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 . Login to comment

PMID: 25288164 [PubMed] Lu C et al: "Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria."

No. Sentence Comment

41 Missense mutations in ABCB6 can cause dominant familial pseudohyperkalemia (p.R375Q) [9] and ocular coloboma (p.A57T and L811V) [10]. Login to comment