ABCC9 p.Ala478Val
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Comment
33
All other mutations (c.3128G>A [p.Cys1043Tyr] and c.1433C>T [p.Ala478Val]) also affected either TMD1 or TMD2.
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ABCC9 p.Ala478Val 22608503:33:63
status: NEW
PMID: 26621776
[PubMed]
Cooper PE et al: "Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel."
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17
Here, we have focused on determining the functional consequences of three documented human CS-associated ABCC9 mutations: human P432L, A478V, and C1043Y.
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ABCC9 p.Ala478Val 26621776:17:135
status: NEW57 ABCC9 mutagenesis and heterologous expression of KATP channels The Quick Change II Site-Directed Mutagenesis kit (Agilent Technologies) was used to engineer P429L, A475V, and C1039Y mutations (equivalent to CS-associated P432L, A478V, and C1043Y mutations in human SUR2; Harakalova et al., 2012; van Bon et al., 2012) into rat SUR2A-pCMV6.
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ABCC9 p.Ala478Val 26621776:57:228
status: NEW98 For the present study, we focused on two previously unexamined mutations (human A478V and C1043Y corresponding to rat A475V and Figure 7.ߓ P429L and A475V show enhanced MgADP activation.
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ABCC9 p.Ala478Val 26621776:98:80
status: NEW