ABCMdb

ABCC8 p.Met429*

None has been submitted yet.

Publications

PMID: 25201519 [PubMed] Arya VB et al: "Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations."

No. Sentence Comment

63 Extracellular M1V S12X Q54X E128K R74W M429X H627fs D855E R934X K890fs E995X *A1185V D1194V *L1431F R1437Q *D1472N A1493T *A1508P *E1507K *R54H R136fs Kir6.2 SUR1 CL3 linker Walker A p.? Login to comment
76 p.?/N (c.1333-1013AOG/N) Yes No Focal Hypoglycaemia resolved after removal of focal lesion 42 37, 4480 Female !1 1.7 5.6 A1263T/N (c.3787GOA/N) No Diffuse (PVS) Near-total pancreatectomy (95%) 45 39, 3960 Male !1 2.4 23.6 p.?/N (c.1-?_c.1176C1?/N) No Focal Hypoglycaemia resolved after removal of focal lesion 46 34, 3800 Male !1 0.8 201 D855E/N (c.2565COA/N) No Focal Hypoglycaemia resolved after removal of focal lesion 47 41, 4780 Male !1 2.4 15.9 M429X/N (c.1254_1284dup/N) No Focal Hypoglycaemia resolved after removal of focal lesion 48 40, 3800 Female !1 2.4 5.9 M429X/N (c.1254_1284dup/N) No Diffuse On octreotide at 7 months 49 40, 4100 Male !1 0.8 9.1 R74W/N (c.220COT/N) No Focal Hypoglycaemia resolved after removal of focal lesion 51 38, 3730 Female !1 1.9 21.6 E995X (c.2983GOT) No Focal Hypoglycaemia resolved after removal of focal lesion KCNJ11 7 38, 3780 Female !1 1.7 29.6 M209I/N (c.627GOA/N) Yes Diffuse On Dzx at 2.8 years 12 40, 3450 Male !1 2 6.7 R54H/N (c.161GOA/N) Yes - Off Dzx after 4 months 26 36, 3880 Male !1 !1.0 6.1 E292K/N (c.874GOA/N) No Diffuse (PVS) Near-total pancreatectomy (95%) 28 40, 4600 Male !1 1.3 38.87 R136fs/N (c.405dupG/N) No Diffuse (PVS) Near-total pancreatectomy (95%) 35 38, 4120 Female !1 2.2 12.0 T294M/N (c.881COT/N) No Diffuse (PVS) Near-total pancreatectomy (95%) 36 37, 3960 Male !1 1.9 7.0 G312C/N (c.934GOT/N) No Focal Hypoglycaemia resolved after removal of focal lesion 43 40, 4100 Female !1 1.0 35 I284del/N (c.850_852delATC/N) Yes Diffuse Off Dzx at 4 years of age 44 40, 4580 Female 32 2.2 7 p.*391Rext*94/N (c.1171TO C/N) No Focal Partial pancreatectomy, currently on Dzx 50 37, 3980 Male !1 0.5 2.9 T62M/N (c.185COT/N) Yes - Off Dzx at 1 month 52 40, 5190 Male !1 2.5 8.4 R177W/N (c.529AOT/N) Yes Diffuse On Dzx at 3 months of age 53 40, 3920 Male !1 2.1 9.2 E292K/N (c.874GOA/N) Yes Diffuse Off Dzx at 5 months of age Dzx, diazoxide; PET, positron emission tomography; PVS, pancreatic venous sampling; GA, gestational age; Wt, weight; LOH, loss of heterozygosity; Resp, responsiveness. Login to comment