ABCC8 p.Arg521Gln
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PMID: 20922570
[PubMed]
Edghill EL et al: "Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11."
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Sentence
Comment
85
One of the most notable R1183W/Q A1185E E1327K G1401R V1523A/L V1524M R1531A NBD1 NBD2 outside membrane inside P45L N72S F132L/V L135P P207S E208K D209E Q211K D212I/N L213R L225P T229I Y263D A269D/N E382K V86A/G R1380C/H/L C435R L438F M1290V L451P R826W R1314H TMD0 TMD1 TMD2 R306H V324M L582V H1024Y I1425V A90V Y356C R521Q N1123D R1153G T1043TfsX74 Fig. 3 Schematic representation of 50 ABCC8 mutations which cause neonatal diabetes.
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ABCC8 p.Arg521Gln 20922570:85:319
status: NEW