ABCMdb

ABCC9 p.Pro432Leu

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Publications

PMID: 22610116 [PubMed] Harakalova M et al: "Dominant missense mutations in ABCC9 cause Cantu syndrome."

No. Sentence Comment

40 The p.Pro432Leu alteration would render hinge-bending motion more difficult, thereby inhibiting conformational changes. Login to comment
59 The nucleotide-binding Table 1 Summary of detected heterozygous missense mutations in ABCC9 Subject Chr. Genomic alterationa cDNA alteration Protein alteration 9 12 g.22086822C>T c.178C>T p.His60Tyr 7 12 g.22068797C>A c.621C>A p.Asp207Glu 10 12 g.22063786G>T c.1138G>T p.Gly380Cys 5 12 g.22063116C>T c.1295C>T p.Pro432Leu 12 12 g.21998575T>C c.3058T>C p.Ser1020Pro 16 12 g.21997830T>C c.3116>C p.Phe1039Ser 15 12 g.21997785C>A c.3161>A p.Ser1054Tyr 2,3 (child and mother) 12 g.21995374G>A c.3347G>A p.Arg1116His 14 12 g.21995375C>T c.3346C>T p.Arg1116Cys 4 12 g.21995261C>T c.3460C>T p.Arg1154Trp 1,6,8 12 g.21995260G>A c.3461G>A p.Arg1154Gln Chr., chromosome. Login to comment
62 a b NBD2 NBD1 TMD2 TMD1 TMD0 p.His60Tyr p.Asp207Glu p.Gly380Cys p.Pro432Leu p.Ser1020Pro p.Phe1039Ser p.Ser1054Tyr p.Arg1116Cys p.Arg1116His p.Arg1116His* p.Arg1154Gln p.Arg1154Gln p.Arg1154Gln p.Arg1154Trp Figure 1 Clinical presentation of subjects with Cant&#fa; syndrome and mutations in ABCC9. Login to comment
81 In contrast, ABCC9 p.Arg1154Gln (0.88 &#b1; 0.19 and 0.76 &#b1; 0.12 mM for inward and outward components, respectively), ABCC9 p.Pro432Leu (1.18 &#b1; 0.18 and 1.25 &#b1; 0.16 mM) and ABCC9 p.Arg1116His(0.28&#b1;0.05and0.24&#b1;0.04mM)mutantchannelsshowed reduced ATP sensitivity. Login to comment
88 The similarities between the phenotypic characteristics of individuals with Cant&#fa; -2,000 -1,500 -1,000 -500 0 500 1,000 1,500 -2,000 -1,500 -1,000 -500 0 500 1,000 1,500 -2,000 -1,500 -1,000 -500 0 500 1,000 1,500 -2,000 -1,500 -1,000 -500 0 500 1,000 1,500 WT p.Pro432Leu p.Arg1116His p.Arg1154Gln C 0.1 1.0 10 C, 0.1 1.0 10 C 0.1 1.0 10 C 0.1 1.0 10 0.0 0.01 0.1 1 10 ATP (mM) 0 20 40 60 80 100 Remaining current (%) Inward 0.0 0.01 0.1 1 10 ATP (mM) Outward 0 20 40 60 80 100 Remaining current (%) WT p.Arg1154Gln IC 50 0.88 &#b1; 0.19* p.Pro432Leu IC 50 1.18 &#b1; 0.18** p.Arg1116His IC 50 0.28 &#b1; 0.05*** WT IC 50 0.07 &#b1; 0.01 p.Arg1154Gln IC 50 0.76 &#b1; 0.12* p.Pro432Leu IC 50 1.25 &#b1; 0.16** p.Arg1116His IC 50 0.24 &#b1; 0.04*** Asp207 Arg1154 Pro432 Ser1020 Phe1039 Arg1116 Ser1054 Gly380 Current (pA) Current (pA) Current (pA) Current (pA) -100 100 0 Membrane potential (mV) IC 50 0.07 &#b1; 0.01 a b c Figure 2 Topology and biophysical effect of ABCC9 mutations. Login to comment
98 Wild-type ABCC9, n = 8; ABCC9 p.Arg1154Gln, n = 7; ABCC9 p.Pro432Leu, n = 6; ABCC9 p.Arg1116His, n = 5. Login to comment
227 Nucleotide changes encoding the p.Arg1154Gln, p.Pro432Leu and p.Arg1116His alterations were engineered into the ABCC9 expression construct using the QuikChange II XL Site-Directed Mutagenesis Kit (Stratagene) and custom-designed mutagenesis primers. Login to comment

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."

No. Sentence Comment

17 Here, we have focused on determining the functional consequences of three documented human CS-associated ABCC9 mutations: human P432L, A478V, and C1043Y. Login to comment
57 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. Login to comment
86 C1039Y, respectively), located in the TMD1 and TMD2 segments, and P432L (corresponding to rat P429L), also located in the TMD1 region. Login to comment