ABCMdb

ABCC8 p.Ala90Val

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Publications

PMID: 17635943 [PubMed] Suzuki S et al: "Molecular basis of neonatal diabetes in Japanese patients."

No. Sentence Comment

7 Five mutations were novel: two (p.A174G and p.C166Y) in KCNJ11, two (p.A90V and p.N1122D) in ABCC8, and one (p.P367L) in FOXP3. Login to comment
56 The novel mutations were the substitution of alanine by valine at codon 90 (c.269CϾT, p.A90V) and the substitution of asparagine by aspartate at codon 1122 (c.3364AϾG, p.N1122D). Login to comment
79 They exhibited hyperglycemia, leading to fever and dehydration in the patient with the A90V mutation and severe DKA, resulting in seizure in the patient with the N1122D mutation. Login to comment
88 The patients with R50G, C166Y, R201C, or R201H in the KCNJ11 and A90V mutations or N1122D in the ABCC8 mutation have been treated with insulin since diagnosis of diabetes. Login to comment
98 Sex Year of birth Age at last visit (yr) Diabetes form Genetic defect Age at onset of diabetes (d) Age at remission (d) Remark 1 M 2001 0.7 TNDM pUPD(6) 10 161 Macroglossia at onset 2 M 2002 2.8 TNDM pUPD(6) 9 104 Macroglossia at onset 3 M 2005 0.6 TNDM pUPD(6) 4 62 4 F 2002 0.3 TNDM pUPD(6) 11 62 Macroglossia at onset 5 F 2003 2.0 TNDM pUPD(6) 0 91 Extremely premature baby 6 F 2005 0.4 TNDM pUPD(6) 8 39 7 F 2000 5.4 TNDM pUPD(6) 1 26 Prominent forehead 8 M 2004 0.7 TNDM 6q24 duplication 6 16 9 M 2002 2.5 TNDM 6q24 duplication 2 173 Macroglossia at onset 10 M 2004 0.9 TNDM 6q24 duplication 8 35 Macroglossia at onset 11 F 1994 11.2 TNDM 6q24 duplication 6 246 Recurrence at 10 yr of age (38) 12 M 2003 1.3 TNDM KCNJ11 (p.R50Q) 9 307 13 M 1986 14.6 TNDM KCNJ11 (p.A174G) 17 307 Recurrence at 13 yr of age 14 M 2004 2.0 PNDM KCNJ11 (p.R201H) 33 15 F 2004 0.5 PNDMa KCNJ11 (p.R201H) 54 16 M 2004 2.0 PNDM KCNJ11 (p.R201H) 42 17 M 2006 0.3 PNDMa KCNJ11 (p.R201H) 54 18 F 2000 5.0 PNDM KCNJ11 (p.R201C) 49 19 M 1997 8.3 PNDM KCNJ11 (p.R50G) 115 DEND syndrome, arthroglyposis 20 F 2003 3.1 PNDM KCNJ11 (p.C166Y) 98 DEND syndrome, arthroglyposis, prominent forehead, ptosis 21 M 2004 1.7 PNDM ABCC8 (p.A90V) 40 22 M 2006 0.3 PNDMa ABCC8 (p.N1122D) 50 23 M 2001 0.3 PNDM FOXP3 (p.P367 liter) 8 Died at 4 months of age 24 M 2000 3.6 TNDM Unknown 10 27 Extremely premature baby 25 M 2001 0.2 TNDM Unknown 11 25 Extremely premature baby 26 M 2005 0.2 TNDM Unknown 13 60 Macroglossia at onset 27 M 2003 1.9 PNDM Unknown (no IPF1 mutation) 9 Pancreatic agenesis 28 M 2002 3.4 PNDM Unknownb 42 29 M 2002 1.2 PNDM Unknown 18 Congenital deafness, cataract, mental retardation, liver dysfunction 30 M 1991 13.9 PNDM Unknown 55 Severe developmental delay 31 F 2002 3.0 PNDM Unknown 93 Congenital cataract, severe developmental delay F, Female; M, male. Login to comment
159 The novel A90V and N1122D mutations are located in TMD0 and TMD2, respectively. Login to comment
162 Thus, the functional consequence of the novel mutations A90V and N1122D is likely to overactivate beta-cell ATP-sensitive Kϩ channels. Login to comment

PMID: 20922570 [PubMed] Edghill EL et al: "Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11."

No. 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. Login to comment

PMID: 18990670 [PubMed] Aittoniemi J et al: "Review. SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator."

No. Sentence Comment

204 (a) (b) P45L N72S F132L NH2 A90V V86G COOHL135P exoplasmic cytoplasmic Walker A Walker A linker Walker B linker Walker B V324M E382K C435R L438F L582V R826W H1023Y N1122D R1183Q A1185E R1314H E1327K R1380 L I1425V V1524 L P207S E208K Q211K D212I/N L225P T229I Y263D A269D R306H D209E L213R TMD0 TMD1 TMD2 NBD1 NBD2 CL3 linker site 1 site 2 NBD1 NBD2 R826W R1380 L E1327K I1425V V1524 L Figure 5. Login to comment
207 (a) (b) P45L N72S F132L NH2 A90V V86G COOH L135P exoplasmic cytoplasmic Walker A Walker A linker Walker B linker Walker B V324M E382K C435R L438F L582V R826W H1023Y N1122D R1183Q A1185E R1314H E1327K R1380 L I1425V V1524 L P207S E208K Q211K D212I/N L225P T229I Y263D A269D R306H D209E L213R TMD0 TMD1 TMD2 NBD1 NBD2 CL3 linker site 1 site 2 NBD1 NBD2 R826W R1380 L E1327K I1425V V1524 L Figure 5. Login to comment