ABCMdb

ABCC8 p.Pro201Ser

None has been submitted yet.

Publications

PMID: 22210575 [PubMed] Riveline JP et al: "Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations."

No. Sentence Comment

38 Three mutations were previously reported (c.2476C.T/p.R826W in transient NDM [TNDM] (3,4,13), c.1252T.C/p.C418R and c.1858C.T/ p.R620C in congenital hyperinsulinism [CHI] (14,15)), and one mutation is novel (c.601C.G/p.P201S). Login to comment
40 The P201S mutation that lies at a highly conserved residue across mammalian species, in the L0-linker loop of the TMD0-L0 gatekeeper module of SUR1 (16),wasnotpresentin330normoglycemic French subjects. Login to comment
44 1-II.1 2-II.1 3-II.1 3-II.2 4-II.1 4-III.1 4-III.2 D-1 D-2 D-3 D-4 Sex Female Male Male Male Male Female Male Female Male Male Female Mutation R1380H C435R L582 V L582 V Y356C Y356C Y356C P201S C418R R620C R826 W c.4139G.A c.1303T.C c.1744C.G c.1744C.G c.1067A.G c.1067A.G c.1067A.G c.601C.G c.1252T.C c.1858C.T c.2476C.T Previous report NDM (11) NDM (2) NDM (2) d Type 2 diabetes (7) d d None rs67254669* rs58241708* TNDM (4,6,13) Features at diagnosis or at ascertainment Status Diabetes Diabetes Diabetes Diabetes Diabetes Impaired glucose toleranceߤ Normal glucose toleranceߤ Type 2 diabetes Type 2 diabetes Type 2 diabetes Type 2 diabetes Age (years)/BMI (kg/m 2 ) 17/24 15/20 36/21 32/37 39/26 35/20 33/22 53/22 53/31 46/25 49/28 Symptoms Polyuria Polyuria None Obesity None None None Tiredness Hyperglycemia Polyuria None Features at last examination Age (years) 63 39 38 37 74 35 33 80 74 56 58 SU treatment 15 mg/day glyburidex 15 mg/day glyburidex 5 mg/day glyburide 160 mg/day gliclazide 3 mg/day glimepiride None None Glyburide| Glimepiride| Glypizide Glimepiride HbA 1c (%)ߥ 7.3 6.7 6.2 6.4 6.5 5.5 ND 7.4 6.2 6.8 6.2 C-peptide (pmol/mL) 0.08 0.14 ND ND 3.00 ND ND 1.17 2.08 1.90 3.80 All mutations were identified heterozygously in the patients. Login to comment