ABCMdb

PMID: 20922570

Edghill EL, Flanagan SE, Ellard S
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Rev Endocr Metab Disord. 2010 Sep;11(3):193-8., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCC8 p.Phe132Leu ABCC8 p.Phe132Val For example the R50Q KCNJ11 mutation and the F132V ABCC8 mutation cause isolated diabetes whilst the R50P and F132L mutations cause DEND syndrome [22, 27, 40]. Login to comment 85 ABCC8 p.Val86Ala ABCC8 p.Phe132Leu ABCC8 p.Ala90Val ABCC8 p.Leu135Pro ABCC8 p.Leu438Phe ABCC8 p.Arg306His ABCC8 p.Asp212Ile ABCC8 p.Asp209Glu ABCC8 p.Thr229Ile ABCC8 p.Leu582Val ABCC8 p.Tyr263Asp ABCC8 p.Val1523Ala ABCC8 p.Asn72Ser ABCC8 p.Cys435Arg ABCC8 p.Leu451Pro ABCC8 p.Glu382Lys ABCC8 p.Leu213Arg ABCC8 p.Val324Met ABCC8 p.Glu208Lys ABCC8 p.Pro207Ser ABCC8 p.Pro45Leu ABCC8 p.Gln211Lys ABCC8 p.Leu225Pro ABCC8 p.Arg521Gln ABCC8 p.Ala269Asp ABCC8 p.Tyr356Cys 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. Login to comment