ABCC6 p.Arg964Pro
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PMID: 18253096
[PubMed]
Plomp AS et al: "ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones."
No.
Sentence
Comment
6
Results: Eight novel ABCC6 mutations (c.1685T>C, p.Met562Thr; c.2477T>C, p.Leu826Pro; c.2891G>C, p.Arg964Pro; c.3207C>A, p.Tyr1069X; c.3364delT, p.Ser1122fs; c.3717T>G, p.Tyr1293X; c.3871G>A, p.Ala1291Thr; c. 4306_4312del, p.Thr1436fs) were found in seven unrelated patients.
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ABCC6 p.Arg964Pro 18253096:6:99
status: NEW69 In case 3, one missense mutation was found in ABCC6, the novel mutation c.2891G>C (p.Arg964Pro), which leads to the change of a well conserved amino acid between NBF1 and NBF2.
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ABCC6 p.Arg964Pro 18253096:69:85
status: NEW115 DISCUSSION In this study, eight novel mutations were found, which we consider to be implicated in PXE: c.1685T>C (p.Met562Thr), c.2477T>C (p.Leu826Pro), c.2891G>C (p.Arg964Pro), c.
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ABCC6 p.Arg964Pro 18253096:115:166
status: NEW
PMID: 25062064
[PubMed]
Hosen MJ et al: "Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter."
No.
Sentence
Comment
228
(Leu953His) R964 2891G.C R964P Missense 22 p.
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ABCC6 p.Arg964Pro 25062064:228:25
status: NEW229 (Arg964Pro) 998 998+2delT Splice 8i 998 998+2_998+3delTG Splice 8i Chain B D1006 3307-1006_3882+1582del Del 23i_25i D1056 3168C.A D1056E Missense 23 p.
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ABCC6 p.Arg964Pro 25062064:229:1
status: NEW